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1.
Ophthalmology ; 127(4): 492-500, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31937464

RESUMO

PURPOSE: To evaluate structural grading and quantitative segmentation of foveal hypoplasia using handheld OCT, versus preferential looking (PL), as predictors of future vision in preverbal children with infantile nystagmus. DESIGN: Longitudinal cohort study. PARTICIPANTS: Forty-two patients with infantile nystagmus (19 with albinism, 17 with idiopathic infantile nystagmus, and 6 with achromatopsia) were examined. METHODS: Spectral-domain handheld OCT was performed in preverbal children up to 36 months of age. Foveal tomograms were graded using our 6-point grading system for foveal hypoplasia and were segmented for quantitative analysis: photoreceptor length, outer segment (OS) length, and foveal developmental index (FDI; a ratio of inner layers versus total foveal thickness). Patients were followed up until they could perform chart visual acuity (VA) testing. Data were analyzed using linear mixed regression models. Visual acuity predicted by foveal grading was compared with prediction by PL, the current gold standard for visual assessment in infants and young children. MAIN OUTCOME MEASURES: Grade of foveal hypoplasia, quantitative parameters (photoreceptor length, OS length, FDI), and PL VA were obtained in preverbal children for comparison with future chart VA outcomes. RESULTS: We imaged 81 eyes from 42 patients with infantile nystagmus of mean age 19.8 months (range, 0.9-33.4 months; standard deviation [SD], 9.4 months) at the first handheld OCT scan. Mean follow-up was 44.1 months (range, 18.4-63.2 months; SD, 12.0 months). Structural grading was the strongest predictor of future VA (grading: r = 0.80, F = 67.49, P < 0.0001) compared with quantitative measures (FDI: r = 0.74, F = 28.81, P < 0.001; OS length: r = 0.65; F = 7.94, P < 0.008; photoreceptor length: r = 0.65; F = 7.94, P < 0.008). Preferential looking was inferior to VA prediction by foveal grading (PL: r = 0.42, F = 3.12, P < 0.03). CONCLUSIONS: Handheld OCT can predict future VA in infantile nystagmus. Structural grading is a better predictor of future VA than quantitative segmentation and PL testing. Predicting future vision may avert parental anxiety and may optimize childhood development.


Assuntos
Anormalidades do Olho/patologia , Fóvea Central/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Nistagmo Congênito/diagnóstico , Transtornos da Visão/diagnóstico , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/fisiopatologia , Pré-Escolar , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/fisiopatologia , Anormalidades do Olho/classificação , Feminino , Seguimentos , Fóvea Central/diagnóstico por imagem , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Humanos , Lactente , Estudos Longitudinais , Masculino , Nistagmo Congênito/fisiopatologia , Estudos Prospectivos , Tomografia de Coerência Óptica , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia
2.
BMC Med Genet ; 20(1): 130, 2019 07 25.
Artigo em Inglês | MEDLINE | ID: mdl-31345173

RESUMO

BACKGROUND: Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (OCA). CASE PRESENTATION: Here, we report an 11-month-old male proband from a Chinese Han non-consanguineous family, who presented with milky skin, yellow white hair, nystagmus, astigmatism, and hypermetropia. We performed the targeted next-generation sequencing (NGS) on the proband and identified two novel compound heterozygous variants (c.1865 T > C (p.Leu622Pro) and exons 17-21 deletion) in OCA2 gene associated with OCA type 2 (OCA2, OMIM 203200). Meanwhile, a previously reported heterozygous mutation (c.4805G > A) in MYO7 gene related with Usher syndrome type 1B was found. The online tools SIFT, PolyPhen-2, and Mutation Taster predicted variant c.1865 T > C was probably damaging. The residue p.Leu622 was in a highly conserved region among species by CLUSTALW. Three-dimensional homology model with I-TASSER indicated that p.Leu622Pro variant disturbed the formation of the α-helix, resulting in a random coil structure. The gross deletion (exons 17-21) in OCA2 gene has was not been reported previously. These two novel variants in OCA2 gene were inherited from each parent respectively, after verification by Sanger sequencing and quantitative PCR (qPCR) in the family. CONCLUSIONS: This study indicates the two novel compound heterozygous mutations in OCA2 gene may be responsible for clinical manifestations of OCA2. It expands the mutation spectrum of OCA2 gene and is helpful to screen for large deletions with targeted NGS protocol in monogenic disease. It also assists the genetic counselling, carrier screening and personalized healthcare of the disease.


Assuntos
Albinismo Oculocutâneo/genética , Grupo com Ancestrais do Continente Asiático/genética , Predisposição Genética para Doença/genética , Proteínas de Membrana Transportadoras/genética , Mutação , Albinismo Oculocutâneo/fisiopatologia , Éxons , Aconselhamento Genético , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Modelos Moleculares , Miosina VIIa , Miosinas/genética , Conformação Proteica , Análise de Sequência de Proteína , Deleção de Sequência
3.
Doc Ophthalmol ; 139(1): 21-32, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30927186

RESUMO

BACKGROUND: Albinism patients have poor visual acuity in addition to hypopigmentation. Their foveal anatomy is abnormal, but correlation with function is incompletely understood. This study correlates retinal electrophysiology, visual acuity and optical coherence tomography (OCT) anatomy in albinism patients and compares with age-similar controls. METHODS: Institutional Review Board approval was obtained (IRB# 201408782). Patients were recruited from clinical practice. Inclusion criteria were at least three clinical features of albinism including iris transillumination, nystagmus, fundus hypopigmentation, or foveal hypoplasia on OCT and/or molecular genetic confirmation. Diagnosys (Lowell, Mass) full-field ERG (ffERG) and VERIS multifocal ERG (mfERG; Electro-Diagnostic Imaging, Milpitas, California) were obtained using standard International Society for Clinical Electrophysiology of Vision protocols. The mfERG protocol was a 4-min 103-hexagon protocol covering approximately 40° in diameter of central retina. Control subjects without albinism were recruited by in-hospital notices and invitations in clinic. OCT central thickness was recorded, and an OCT foveal score was calculated. Nonparametric permutation testing was utilized to determine the statistical significance. RESULTS: A total of 16 albinism patients and 19 age-similar controls were recruited. Four of 16 albinism patients had no nystagmus. Seventeen non-albinism controls had no ocular disorder other than refractive error. Two controls had infantile nystagmus with normal maculas on OCT. There was no statistically significant difference in mfERG amplitude or latency between albinism patients with or without nystagmus (lowest p = 0.68; 0.54, respectively). mfERG: 12 of 16 (75%) albinism patients had average ring 1 amplitudes within one standard deviation of controls despite having abnormal foveal anatomy on OCT. Patients averaged shorter latencies in rings 1 and 2 than controls (p = 0.005, p = 0.02). Patients averaged higher amplitudes than controls in rings 4, 5 and 6 (p = 0.03, p = 0.006, p = 0.004). There was no significant correlation between visual acuity and mfERG amplitudes in any ring (smallest p = 0.15). ffERG: Patients averaged higher amplitudes on 30 Hz flicker (p = 0.008). In all conditions, albinism patients had higher amplitude a-waves (p ≤ 0.03). B-waves were higher amplitude than controls in light-adapted 3.0 (p = 0.03). There was no statistical correlation between ffERG amplitudes and visual acuity (smallest p = 0.45). OCT: In albinism patients, thicker central macula on OCT correlated with lower mfERG amplitudes in all rings except for ring 1 (p < 0.05) and lower ffERG a-wave amplitudes on dark-adapted 0.01 (p = 0.003). Macular thickness on OCT did not correlate with visual acuity (p = 0.51); OCT foveal score did (p = 0.0004). CONCLUSIONS: Amplitude of mfERG does not correlate with visual acuity in any ring in patients with albinism. The slope of the change in amplitude from central to peripheral rings on the mferg is significantly different in albinism patients versus controls whether or not nystagmus is present. The decreased slope of change in amplitudes from center to periphery of the macula in albinism patients indicates changes in macular topography that are more important to visual deficits than the foveal depression.


Assuntos
Albinismo Oculocutâneo/fisiopatologia , Fóvea Central/patologia , Retina/fisiopatologia , Acuidade Visual/fisiologia , Adolescente , Adulto , Criança , Eletrorretinografia/métodos , Feminino , Fóvea Central/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Nistagmo Patológico/fisiopatologia , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Adulto Jovem
4.
Eur J Med Genet ; 62(11): 103583, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30472485

RESUMO

Several types of Hermansky-Pudlak syndromes (HPS) represent a group of immunodeficiency syndromes that feature both leukocyte defects with partial albinism of hair, skin, and eyes. These conditions share defects in genes that encode proteins involved in the biogenesis, function, and trafficking of secretory lysosomes. Mutations in AP3D1 which encode the main subunit AP-3(δ) were recently reported on one individual and led to Hermansky-Pudlak Syndrome type 10 (HPS10; OMIM 617050). HPS10 is a severe condition that manifests with symptoms of oculocutaneous albinism, neurodevelopmental delays, platelet dysfunction, and immunodeficiency. Herein we report on three affected individuals who presented with severe seizures, developmental delay, albinism, and immunodeficiency. Whole exome sequencing identified homozygosity for a deleterious sequence variant of high impact in AP3D1, c.1978delG, predicting p.Ala660Argfs*54 (NM_001261826.3). We further demonstrated an abnormal storage pathway in the platelets. The current study represents a second confirmation report and implicates AP3D1 mutations as a cause of Hermansky-Pudlak Syndrome type 10.


Assuntos
Complexo 3 de Proteínas Adaptadoras/genética , Subunidades delta do Complexo de Proteínas Adaptadoras/genética , Epilepsia/genética , Síndrome de Hermanski-Pudlak/genética , Síndromes de Imunodeficiência/genética , Albinismo Oculocutâneo/genética , Albinismo Oculocutâneo/fisiopatologia , Alelos , Transtornos Plaquetários/genética , Transtornos Plaquetários/patologia , Pré-Escolar , Epilepsia/fisiopatologia , Feminino , Síndrome de Hermanski-Pudlak/diagnóstico , Síndrome de Hermanski-Pudlak/fisiopatologia , Humanos , Síndromes de Imunodeficiência/fisiopatologia , Lactente , Masculino , Mutação , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/fisiopatologia , Linhagem , Irmãos , Gêmeos/genética , Sequenciamento Completo do Exoma
5.
J AAPOS ; 22(6): 462-466, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30343058

RESUMO

PURPOSE: To analyze longitudinal changes in refraction in patients with albinism. METHODS: The medical records of 481 patients were reviewed retrospectively to identify patients who had cycloplegic refractions at three ages: visit A, 0-18 months old; visit B, 4-6 years old; visit C, 8-10 years old. We recorded refraction, type of albinism, glasses wear, and best-corrected visual acuity at visit C. Only right eyes were analyzed. RESULTS: A total of 75 patients were included. Of these, 73 wore glasses. Mean best-corrected visual acuity at visit C was 20/72 (range, 20/25-20/200). Mean spherical equivalent was 2.81 ± 2.4 D at visit A, 2.53 ± 3.4 D at visit B, and 2.15 ± 4.0 D at visit C. These values did not differ significantly from visits A to C (P = 0.0578). Mean astigmatism for the three time points was 1.60 ± 1.00 D, 2.50 ± 1.14 D, and 2.87 ± 1.45 D; these values did differ significantly from A to C (P < 0.0001). Subgroup analysis for OCA1A (16 eyes), OCA1B (20 eyes), and OCA2 (30 eyes) showed an increase in astigmatism from A to C, with a significant difference in means (P < 0.0001, P < 0.0001, and P = 0.0001, resp.). Worse best-corrected visual acuity and higher mean astigmatism at visit C were found for OCA1A (20/104 and +4.08 ± 1.34) compared to OCA1B (20/59 and +2.30 ± 1.36; P < 0.0001) and OCA2 (20/66 and +2.53 ±1.21; P < 0.0001). CONCLUSIONS: Children with albinism require periodic cycloplegic refraction, because astigmatism often increases within the first 10 years of life.


Assuntos
Albinismo Oculocutâneo/complicações , Refração Ocular/fisiologia , Erros de Refração/etiologia , Acuidade Visual , Albinismo Oculocutâneo/fisiopatologia , Criança , Pré-Escolar , Progressão da Doença , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Erros de Refração/fisiopatologia , Estudos Retrospectivos , Fatores de Tempo
6.
J Pediatr Ophthalmol Strabismus ; 55(4): 254-259, 2018 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-29809263

RESUMO

PURPOSE: To evaluate change in best corrected visual acuity (BCVA) during the second decade of life and the effects of albinism type and extraocular muscle surgery on BCVA in children with albinism. METHODS: In this retrospective longitudinal study, 41 patients with albinism with clinic visits recording binocular BCVA at least once between the ages of 10 and 13 years (visit A) and again between the ages of 17 and 20 years (visit B) were included. Type of albinism, age at each visit, and interval eye muscle surgeries were recorded for each patient. RESULTS: Forty (98%) patients showed BCVA improvement or stability between visits A and B. There was no significant effect of interval extraocular muscle surgery on BCVA. Those carrying either a clinically presumed or moleculary confirmed diagnosis of oculocutaneous albinism types 1B and 2 had the best visual outcomes, consistent with previous studies. CONCLUSIONS: In the majority of patients with albinism, significant improvement in BCVA occurs during the second decade of life. Extraocular muscle surgery was not a significant factor in BCVA improvement in albinism. Overall, the assessments support the finding of improvement of visual acuity in children with albinism at earlier ages and provide new information beneficial in predicting visual outcomes in the second decade of life. [J Pediatr Ophthalmol Strabismus. 2018;55(4):254-259.].


Assuntos
Albinismo Oculocutâneo/fisiopatologia , Acuidade Visual/fisiologia , Adolescente , Albinismo Oculocutâneo/classificação , Criança , Feminino , Seguimentos , Humanos , Masculino , Estudos Retrospectivos , Visão Binocular/fisiologia
7.
Doc Ophthalmol ; 136(2): 113-123, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29572760

RESUMO

BACKGROUND: Pigmented and albino rabbits are commonly used in visual research; however, the lack of pigment in the eyes may affect retinal responses. Here, we compare and describe the differences of retinal function between pigmented (English Butterfly) and albino (New Zealand) rabbits. METHODS: Electroretinograms were recorded in pigmented and albino rabbits in the dark-adapted eye, in the light-adapted eye and for four temporal frequencies in the light-adapted eye. The implicit time and amplitude of the a- and b-waves were analyzed, as well as the amplitude and phase of the first harmonic component of the photopic flicker response. RESULTS: Albino rabbits presented significantly larger amplitudes for both a- and b-waves at all intensities and frequencies. The intensity-response function of the scotopic b-wave also showed that the albino retina is more sensitive than the pigmented retina and the larger flicker amplitudes found in the albino group also revealed post-receptoral changes specifically related to cone pathways. CONCLUSIONS: The larger amplitude of albino receptoral and post-receptoral activities might be attributed to greater availability of light due to scatter and reflection at the retinal layer, and as the differences in response amplitudes between the groups increase with flicker frequency, we suggest that ON bipolar cells recover faster in the albino group, suggesting that this might be a mechanism to explain the higher temporal resolution for albinos compared to the pigmented group.


Assuntos
Albinismo Oculocutâneo/fisiopatologia , Eletrorretinografia , Coelhos/fisiologia , Retina/fisiologia , Animais , Visão de Cores/fisiologia , Adaptação à Escuridão , Visão Noturna/fisiologia , Estimulação Luminosa , Células Fotorreceptoras Retinianas Cones/fisiologia , Pigmentação da Pele
8.
Invest Ophthalmol Vis Sci ; 58(10): 4162-4172, 2017 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-28829849

RESUMO

Purpose: To identify predictors of sensitivity to perceptual learning on a computerized, near-threshold letter discrimination task in children with infantile nystagmus (idiopathic IN: n = 18; oculocutaneous albinism accompanied by IN: n = 18). Methods: Children were divided into two age-, acuity-, and diagnosis-matched training groups: a crowded (n = 18) and an uncrowded training group (n = 18). Training consisted of 10 sessions spread out over 5 weeks (grand total of 3500 trials). Baseline performance, age, diagnosis, training condition, and perceived pleasantness of training (training joy) were entered as linear regression predictors of training-induced changes on a single- and a crowded-letter task. Results: An impressive 57% of the variability in improvements of single-letter visual acuity was explained by age, training condition, and training joy. Being older and training with uncrowded letters were associated with larger single-letter visual acuity improvements. More training joy was associated with a larger gain from the uncrowded training and a smaller gain from the crowded training. Fifty-six percent of the variability in crowded-letter task improvements was explained by baseline performance, age, diagnosis, and training condition. After regressing out the variability induced by training condition, baseline performance, and age, perceptual learning proved more effective for children with idiopathic IN than for children with albinism accompanied by IN. Training gains increased with poorer baseline performance in idiopaths, but not in children with albinism accompanied by IN. Conclusions: Age and baseline performance, but not training joy, are important prognostic factors for the effect of perceptual learning in children with IN. However, their predictive value for achieving improvements in single-letter acuity and crowded letter acuity, respectively, differs between diagnostic subgroups and training condition. These findings may help with personalized treatment of individuals likely to benefit from perceptual learning.


Assuntos
Aprendizagem/fisiologia , Nistagmo Congênito/fisiopatologia , Reconhecimento Visual de Modelos/fisiologia , Albinismo Oculocutâneo/fisiopatologia , Criança , Aprendizagem por Discriminação/fisiologia , Feminino , Humanos , Masculino , Nistagmo Congênito/reabilitação , Análise de Regressão , Limiar Sensorial/fisiologia , Acuidade Visual
9.
Ophthalmic Genet ; 38(2): 157-160, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27058854

RESUMO

PURPOSE: To evaluate the benefits of phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism (OCA). METHOD: The charts of 195 patients with OCA who visited a local eye clinic were reviewed. All of these patients had genetic linkage analysis to establish OCA type. Frequencies and Paired t-test analysis were determined. RESULTS: Of the 195 patients, nine (4.6%) underwent clear cornea phacoemulsification with intraocular lens implantation. Seven of the nine patients with OCA had the Hermansky-Pudlak (HPS) type 1; two had OCA type 1. Pre-operative BCVA of all eyes ranged from 1.0 to 2.3 logMAR with a mean of 1.42 logMAR and a standard deviation of 0.41 logMAR. Post-operative BCVA of all eyes ranged from 1.0 to 1.30 logMAR with a mean of 1.04 logMAR and a standard deviation of 0.10 logMAR. BCVA improved after phacoemulsification surgery and intraocular lens implantation (p = 0.002). Pre-operative astigmatism of all eyes ranged from +0.50 to +5.75 with a mean of +2.25 and a standard deviation of +2.40. Post-operative astigmatism of all eyes ranged from +0.50 to +2.00 with a mean of +1.23 and a standard deviation of +0.42. Astigmatism improved after phacoemulsification surgery and intraocular lens implantation (p = 0.05). CONCLUSION: Nine patients with OCA who underwent phacoemulsification and intraocular lens implant experienced improved visual acuity and reduced astigmatism post-operatively. These results suggest cataract surgery may improve vision and refractive errors, and thus quality of life, in patients with albinism.


Assuntos
Albinismo Oculocutâneo/complicações , Catarata/complicações , Implante de Lente Intraocular , Facoemulsificação , Adulto , Albinismo Oculocutâneo/fisiopatologia , Albinismo Oculocutâneo/psicologia , Astigmatismo/fisiopatologia , Catarata/fisiopatologia , Catarata/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pseudofacia/fisiopatologia , Qualidade de Vida/psicologia , Refração Ocular/fisiologia , Estudos Retrospectivos , Acuidade Visual/fisiologia
10.
J AAPOS ; 20(5): 419-424, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27647118

RESUMO

PURPOSE: Reports of best-corrected visual acuity (BCVA) in albinism are often based on overlapping clinical phenotypes. BCVA in albinism has been shown to improve with age. This study reports a large cross-sectional investigation to determine whether BCVA differs by specific type of albinism when age-corrected. METHODS: This retrospective review identified 170 individuals with a specific type of albinism identified by mutation(s) in a gene known to cause albinism (for OCA1, OCA2, and Hermansky-Pudlak syndrome ([HPS]) or a specific phenotype (white hair and no melanin pigment in OCA1A; pigmentary mosaicism in the obligate carriers for males with OA1). We recorded optotype binocular BCVA at final follow-up. Patients were age-grouped (2-5 years, 6-14 years, and ≥15 years) for comparison. RESULTS: The greatest visual acuity deficit was found for OCA1A in all age groups. At age ≥15 years (n = 79), mean BCVA was 20/128 for OCA1A, 20/37 for OCA1B, 20/59 for OCA2, 20/63 for OA1, and 20/121 for HPS. Significant differences between BCVA at ≥15 years were found in the following: OCA1A vs OCA1B, OCA1A vs OCA2, OCA1A vs OA1, OCA1B vs HPS, OCA2 vs HPS, and OA1 vs HPS (P ≤ 0.02). CONCLUSIONS: This study provides a large sample size and includes only those with a specific type of albinism. BCVA varies by albinism type, and there is overlap in BCVA, particularly in the younger age groups. For ages ≥15 years, there are significant differences in BCVA between several types of albinism.


Assuntos
Albinismo Oculocutâneo/fisiopatologia , Síndrome de Hermanski-Pudlak/fisiopatologia , Acuidade Visual/fisiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Albinismo Oculocutâneo/genética , Criança , Pré-Escolar , Estudos Transversais , Feminino , Síndrome de Hermanski-Pudlak/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Estudos Retrospectivos
11.
Clin Chest Med ; 37(3): 505-11, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27514596

RESUMO

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis shows many of the clinical, radiologic, and histologic features found in idiopathic pulmonary fibrosis, but occurs at a younger age. Despite knowledge of the underlying genetic defects, there are currently no definitive therapeutic or preventive approaches for HPS pulmonary fibrosis other than lung transplant.


Assuntos
Malformações Arteriovenosas/fisiopatologia , Transtornos da Coagulação Sanguínea/fisiopatologia , Síndrome de Hermanski-Pudlak/fisiopatologia , Hipertensão Pulmonar/fisiopatologia , Malformações Arteriovenosas Intracranianas/fisiopatologia , Fibrose Pulmonar/fisiopatologia , Albinismo/complicações , Albinismo/fisiopatologia , Albinismo Oculocutâneo/etiologia , Albinismo Oculocutâneo/fisiopatologia , Malformações Arteriovenosas/etiologia , Transtornos da Coagulação Sanguínea/etiologia , Doença de Crohn/etiologia , Doença de Crohn/fisiopatologia , Epistaxe/etiologia , Epistaxe/fisiopatologia , Gastroenteropatias/etiologia , Gastroenteropatias/fisiopatologia , Transtornos Hemorrágicos/complicações , Transtornos Hemorrágicos/fisiopatologia , Síndrome de Hermanski-Pudlak/complicações , Humanos , Hipertensão Pulmonar/etiologia , Malformações Arteriovenosas Intracranianas/etiologia , Hepatopatias/etiologia , Hepatopatias/fisiopatologia , Artéria Pulmonar/anormalidades , Fibrose Pulmonar/etiologia , Veias Pulmonares/anormalidades , Telangiectasia/etiologia , Telangiectasia/fisiopatologia
12.
PLoS One ; 11(7): e0158815, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27391149

RESUMO

PURPOSE: Subjects with albinism usually suffer from nystagmus and reduced visual acuity, which may impair reading performance. The contribution of nystagmus to decreased reading ability is not known. Low vision and nystagmus may have an additive effect. We aimed to address this question by motion compensation of the nystagmus in affected subjects and by simulating nystagmus in healthy controls. METHODS: Reading speed and eye movements were assessed in 9 subjects with nystagmus associated with albinism and in 12 healthy controls. We compared the reading ability with steady word presentation and with words presented on a gaze contingent display where words move in parallel to the nystagmus and thus correct for the nystagmus. As the control, healthy subjects were asked to read words and texts in steady reading conditions as well as text passages that moved in a pattern similar to nystagmus. RESULTS: Correcting nystagmus with a gaze contingent display neither improved nor reduced the reading speed for single words. Subjects with nystagmus and healthy participants achieved comparable reading speed when reading steady texts. However, movement of text in healthy controls caused a significantly reduced reading speed and more regressive saccades. CONCLUSIONS: Our results argue against nystagmus as the rate limiting factor for reading speed when words were presented in high enough magnification and support the notion that other sensory visual impairments associated with albinism (for example reduced visual acuity) might be the primary causes for reading impairment.


Assuntos
Albinismo Oculocutâneo/fisiopatologia , Transtornos da Motilidade Ocular/fisiopatologia , Leitura , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
13.
Genet Couns ; 27(1): 67-76, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27192893

RESUMO

BACKGROUND AND AIM: Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndromes confer susceptibility to develop a life-threatening hyperinflammatory condition called hemophagocytic lymphohistiocytosis (HLH). We investigated the genetic, clinical and immunological characteristics of 20 OCA patients. MATERIAL AND METHODS: Herein, we present the clinical and immunological characteristics of 20 OCA patients who referred to the Department of Pediatric Immunology, Erciyes University Medical Faculty in Kayseri, Turkey between 2004 and 2014. RESULTS: Of the 20 OCA patients, 7 fulfilled diagnostic criteria for HLH, 9 showed defective functions of CD8 T cells and natural killer cells, and 8 received a definitive molecular diagnosis. Among the patients, we also report a patient diagnosed with two different genetic defects, in TYR and JAK3 genes, causing, respectively, OCA and ID. CONCLUSION: Our results illustrate the variability of clinical presentations and disease severity in OCA-ID patients, with consequent challenges in diagnosing and treating these patients.


Assuntos
Albinismo Oculocutâneo , Síndromes de Imunodeficiência , Linfo-Histiocitose Hemofagocítica , Piebaldismo , Albinismo Oculocutâneo/sangue , Albinismo Oculocutâneo/genética , Albinismo Oculocutâneo/patologia , Albinismo Oculocutâneo/fisiopatologia , Pré-Escolar , Consanguinidade , Evolução Fatal , Feminino , Humanos , Síndromes de Imunodeficiência/sangue , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/patologia , Síndromes de Imunodeficiência/fisiopatologia , Lactente , Linfo-Histiocitose Hemofagocítica/sangue , Linfo-Histiocitose Hemofagocítica/genética , Linfo-Histiocitose Hemofagocítica/patologia , Linfo-Histiocitose Hemofagocítica/fisiopatologia , Masculino , Piebaldismo/sangue , Piebaldismo/genética , Piebaldismo/patologia , Piebaldismo/fisiopatologia , Doenças da Imunodeficiência Primária , Estudos Retrospectivos , Turquia
14.
J AAPOS ; 20(1): 34-6, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26917069

RESUMO

PURPOSE: To evaluate similarities and differences in visual function and ocular structure between siblings with albinism. METHODS: The medical records of all siblings diagnosed with albinism were retrospectively reviewed. Comparisons were made using examination at oldest age for younger sibling and examination closest to that age for older siblings. RESULTS: A total of 111 patients from 54 families were studied. Mean age was 12.9 years (range, 2 months to 44.2 years). Mean difference in ages between sibling pair examinations was 11.5 months (range, 0-87 months). Of 45 families, best-corrected visual acuity was equal in 9 (20%), within 1/2 octave in 9 (20%), >1/2 but <1 octave in 21 (47%), and ≥1 octave difference in 6 (13%). Of 27 families, stereoacuity was present in all siblings in 9 (33%), absent in 9 (33%), and present in only 1 sibling in 9 (33%). Of 54 families, grading of iris translucency was equal in 35 (65%) and different by 1 grade in 19 (35%). Of 54 families, foveal grading was equal in 39 (72%), different by 1 grade in 14 (26%), and different by ≥2 grades in 1 (2%). Macular melanin was present in all siblings in 16 of the 54 families (30%), absent in all siblings in 36 (67%), and present in only 1 sibling in 2 (4%) families. CONCLUSIONS: The strong concordance of structural features is contrasted with discordance in visual function. Families of siblings with albinism should be counseled with due caution because visual function is often disparate despite similar structural findings.


Assuntos
Albinismo Ocular/fisiopatologia , Albinismo Oculocutâneo/fisiopatologia , Síndrome de Chediak-Higashi/fisiopatologia , Iris/patologia , Acuidade Visual/fisiologia , Adolescente , Adulto , Criança , Pré-Escolar , Percepção de Profundidade/fisiologia , Cor de Olho , Feminino , Cor de Cabelo , Humanos , Lactente , Iris/metabolismo , Macula Lutea/metabolismo , Masculino , Melaninas/metabolismo , Nistagmo Patológico/fisiopatologia , Estudos Retrospectivos , Irmãos
15.
An Bras Dermatol ; 90(4): 513-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26375220

RESUMO

BACKGROUND: The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications. OBJECTIVE: As this subject has not been referenced in previous scientific articles in Brazil, this research intends to evaluate the quality of life of the albinos that treated at our medical institution. METHODS: The quality of life was evaluated through the WHOQOL-BREF. Furthermore, two aspects of main relevance in the lives of the albinos were also objects of research, low vision and skin cancer. The sample consisted of forty oculocutaneous albinos and a control group of forty healthy individuals, matched by sex and age. RESULTS: Among the participants, 57.7% were between 18 and 40 years old, 28.2% were between 41 and 60, and 14.1% were over 60. 42.1% had skin cancer before the study, 18.4% had skin cancer during the study and 89.5% stated visual deficit. The results obtained in the questionnaires showed a statistically significant difference in the physical domain, with P < 0.001. CONCLUSION: Low vision combined with skin lesions and social stigma may contribute to disturbances in the quality of life of oculocutaneous albinos. The results presented in this study demonstrated the vulnerability of the affected individuals and the special care required by those patients, at the same time that the need for further research is highlighted in order to better elucidate the aspects related to albinism.


Assuntos
Albinismo Oculocutâneo/psicologia , Qualidade de Vida/psicologia , Adolescente , Adulto , Distribuição por Idade , Albinismo Oculocutâneo/fisiopatologia , Brasil , Métodos Epidemiológicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psicometria/métodos , Estigma Social , Fatores Sociológicos , Adulto Jovem
16.
An. bras. dermatol ; 90(4): 513-517, July-Aug. 2015. tab, ilus
Artigo em Inglês | LILACS | ID: lil-759215

RESUMO

AbstractBACKGROUND:The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications.OBJECTIVE:As this subject has not been referenced in previous scientific articles in Brazil, this research intends to evaluate the quality of life of the albinos that treated at our medical institution.METHODS:The quality of life was evaluated through the WHOQOL-BREF. Furthermore, two aspects of main relevance in the lives of the albinos were also objects of research, low vision and skin cancer. The sample consisted of forty oculocutaneous albinos and a control group of forty healthy individuals, matched by sex and age.RESULTS:Among the participants, 57.7% were between 18 and 40 years old, 28.2% were between 41 and 60, and 14.1% were over 60. 42.1% had skin cancer before the study, 18.4% had skin cancer during the study and 89.5% stated visual deficit. The results obtained in the questionnaires showed a statistically significant difference in the physical domain, with P < 0.001.CONCLUSION:Low vision combined with skin lesions and social stigma may contribute to disturbances in the quality of life of oculocutaneous albinos. The results presented in this study demonstrated the vulnerability of the affected individuals and the special care required by those patients, at the same time that the need for further research is highlighted in order to better elucidate the aspects related to albinism.


Assuntos
Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Albinismo Oculocutâneo/psicologia , Qualidade de Vida/psicologia , Distribuição por Idade , Albinismo Oculocutâneo/fisiopatologia , Brasil , Métodos Epidemiológicos , Psicometria/métodos , Estigma Social , Fatores Sociológicos
17.
J Pediatr Ophthalmol Strabismus ; 52(3): 167-72, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26053207

RESUMO

PURPOSE: A hallmark of albinism is foveal hypoplasia. However, literature suggests variable foveal development. This study evaluates the association between ocular phenotype and foveal morphology to demonstrate the broad structural and functional spectrum. METHODS: Best-corrected visual acuity (BCVA), nystagmus, angle kappa, stereoacuity, iris transillumination, macular melanin presence, foveal avascular zone, and annular reflex were recorded in 14 patients with albinism. Spectral-domain optical coherence tomography provided macular images. RESULTS: The clinical phenotype was broad, with BCVA varying from 20/20 to 20/100. Better BCVA was associated with a preserved foveal avascular zone, annular macular reflex, stereoacuity, and macular melanin. Imaging demonstrated a continuum of foveal development correlating with BCVA. Individuals with a rudimentary pit had normal inner and outer segment lengthening and better BCVA. CONCLUSIONS: The spectrum of ocular structure and visual function in albinism is broad, suggesting a possible diagnosis of albinism in a patient with an even more normal clinical presentation.


Assuntos
Albinismo Ocular/diagnóstico , Albinismo Oculocutâneo/diagnóstico , Anormalidades do Olho/diagnóstico , Fóvea Central/patologia , Adolescente , Adulto , Idoso de 80 Anos ou mais , Albinismo Ocular/genética , Albinismo Ocular/fisiopatologia , Albinismo Oculocutâneo/genética , Albinismo Oculocutâneo/fisiopatologia , Criança , Análise Mutacional de DNA , Percepção de Profundidade/fisiologia , Potenciais Evocados Visuais , Anormalidades do Olho/genética , Anormalidades do Olho/fisiopatologia , Proteínas do Olho/genética , Feminino , Fóvea Central/anormalidades , Humanos , Masculino , Proteínas de Membrana/genética , Nistagmo Patológico/diagnóstico , Fenótipo , Reação em Cadeia da Polimerase , Estudos Prospectivos , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia , Adulto Jovem
18.
Invest Ophthalmol Vis Sci ; 55(7): 4186-98, 2014 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-24845642

RESUMO

PURPOSE: Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism. METHODS: We recruited 32 subjects with a clinical diagnosis of albinism. DNA was obtained from 25 subjects, and known albinism genes were analyzed for mutations. Relative inner and outer segment (IS and OS) lengthening (fovea-to-perifovea ratio) was determined from manually segmented spectral domain-optical coherence tomography (SD-OCT) B-scans. Foveal pit morphology was quantified for eight subjects from macular SD-OCT volumes. Ten subjects underwent imaging with adaptive optics scanning light ophthalmoscopy (AOSLO), and cone density was measured. RESULTS: We found mutations in 22 of 25 subjects, including five novel mutations. All subjects lacked complete excavation of inner retinal layers at the fovea, though four subjects had foveal pits with normal diameter and/or volume. Peak cone density and OS lengthening were variable and overlapped with that observed in normal controls. A fifth hyper-reflective band was observed in the outer retina on SD-OCT in the majority of the subjects with albinism. CONCLUSIONS: Foveal cone specialization and pit morphology vary greatly in albinism. Normal cone packing was observed in the absence of a foveal pit, suggesting a pit is not required for packing to occur. The degree to which retinal anatomy correlates with genotype or visual function remains unclear, and future examination of larger patient groups will provide important insight on this issue.


Assuntos
Albinismo Oculocutâneo/diagnóstico , Fóvea Central/patologia , Células Fotorreceptoras Retinianas Cones/patologia , Acuidade Visual , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Albinismo Oculocutâneo/genética , Albinismo Oculocutâneo/fisiopatologia , Contagem de Células , Criança , DNA/genética , Eletrorretinografia , Proteínas do Olho/genética , Feminino , Fóvea Central/fisiopatologia , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Oftalmoscopia , Células Fotorreceptoras Retinianas Cones/metabolismo , Tomografia de Coerência Óptica , Adulto Jovem
19.
Clin Exp Ophthalmol ; 42(8): 713-21, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24641678

RESUMO

BACKGROUND: Dopamine is an intermediate product in the biosynthesis of melanin pigment, which is absent or reduced in albinism. Animal research has shown that supplying a precursor to dopamine, levodopa, may improve visual acuity in albinism by enhancing neural networks. This study examines the safety and effectiveness of levodopa on best-corrected visual acuity in human subjects with albinism. DESIGN: Prospective, randomized, placebo-controlled, double-masked clinical trial conducted at the University of Minnesota. PARTICIPANTS: Forty-five subjects with albinism. METHODS: Subjects with albinism were randomly assigned to one of three treatment arms: levodopa 0.76 mg/kg with 25% carbidopa, levodopa 0.51 mg/kg with 25% carbidopa, or placebo and followed for 20 weeks, with best-corrected visual acuity measured at enrollment, and at weeks 5, 10, 15, and 20 after enrollment. Side-effects were recorded with a symptom survey. Blood was drawn for genotyping. MAIN OUTCOME MEASURES: Side-effects and best-corrected visual acuity 20 weeks after enrolment. RESULTS: All subjects had at least one mutation found in a gene known to cause albinism. Mean age was 14.5 years (range: 3.5 to 57.8 years). Follow up was 100% and compliance was good. Minor side-effects were reported; there were no serious adverse events. There was no statistically significant improvement in best-corrected visual acuity after 20 weeks with either dose of levodopa. CONCLUSIONS: Levodopa, in the doses used in this trial and for the time course of administration, did not improve visual acuity in subjects with albinism.


Assuntos
Albinismo Oculocutâneo/tratamento farmacológico , Dopaminérgicos/uso terapêutico , Levodopa/uso terapêutico , Acuidade Visual/efeitos dos fármacos , Administração Oral , Adolescente , Adulto , Albinismo Oculocutâneo/genética , Albinismo Oculocutâneo/fisiopatologia , Criança , Pré-Escolar , Dopaminérgicos/efeitos adversos , Método Duplo-Cego , Feminino , Humanos , Levodopa/efeitos adversos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Acuidade Visual/fisiologia
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