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1.
Ophthalmic Genet ; 39(6): 725-727, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30426811

RESUMO

BACKGROUND: Leigh syndrome, French Canadian type is a rare neurodegenerative disease. To our knowledge, there have been no studies based on ocular findings published for this disease. The purpose of this study is to describe ophthalmic findings in these patients. PATIENTS: Six patients genetically identified as having the syndrome were included in this study. METHODS: Four patients had an ophthalmic examination with an ophthalmologist including evaluation of visual acuity, extraocular motility and lid position, orthoptic workup, evaluation of stereopsis, refraction, evaluation of pupils, color vision, slit-lamp biomicroscopy, measurement of intraocular pressure, and fundoscopy. Two patients had a chart review. RESULTS: Visual acuity ranged from 0.00 logmar to 1.55 logmar. Extraocular motility abnormalities and ptosis were noted in half of the patients. Strabismus was present in the entire cohort, and stereopsis was absent in half of these patients. Amblyopia was noted in 83% of individuals and suppression in 33%. Only one patient had nystagmus. Refraction varied throughout patients. It included severe hyperopia, myopia, astigmatism, and significant anisometropia. Pupils, anterior segment, fundus, and color vision were normal in all patients. Intraocular pressure was slightly elevated in one patient. CONCLUSION: Patients with Leigh syndrome, French Canadian type display a variety of ophthalmic findings, and screening at a young age is recommended.


Assuntos
Deficiência de Citocromo-c Oxidase/complicações , Oftalmopatias/etiologia , Doença de Leigh/complicações , Adulto , Ambliopia/diagnóstico , Ambliopia/etiologia , Ambliopia/genética , Criança , Pré-Escolar , Cromossomos Humanos Par 2 , Deficiência de Citocromo-c Oxidase/diagnóstico , Deficiência de Citocromo-c Oxidase/genética , Oftalmopatias/diagnóstico , Oftalmopatias/genética , Feminino , Humanos , Hiperopia/diagnóstico , Hiperopia/etiologia , Hiperopia/genética , Lactente , Doença de Leigh/diagnóstico , Doença de Leigh/genética , Masculino , Proteínas de Neoplasias/genética , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Transtornos da Motilidade Ocular/genética , Estrabismo/diagnóstico , Estrabismo/etiologia , Estrabismo/genética , Baixa Visão/diagnóstico , Baixa Visão/etiologia , Baixa Visão/genética , Acuidade Visual/fisiologia
2.
Curr Biol ; 28(12): 1914-1923.e5, 2018 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-29887305

RESUMO

Degrading vision by one eye during a developmental critical period yields enduring deficits in both eye dominance and visual acuity. A predominant model is that "reactivating" ocular dominance (OD) plasticity after the critical period is required to improve acuity in amblyopic adults. However, here we demonstrate that plasticity of eye dominance and acuity are independent and restricted by the nogo-66 receptor (ngr1) in distinct neuronal populations. Ngr1 mutant mice display greater excitatory synaptic input onto both inhibitory and excitatory neurons with restoration of normal vision. Deleting ngr1 in excitatory cortical neurons permits recovery of eye dominance but not acuity. Reciprocally, deleting ngr1 in thalamus is insufficient to rectify eye dominance but yields improvement of acuity to normal. Abolishing ngr1 expression in adult mice also promotes recovery of acuity. Together, these findings challenge the notion that mechanisms for OD plasticity contribute to the alterations in circuitry that restore acuity in amblyopia.


Assuntos
Ambliopia/fisiopatologia , Dominância Ocular/fisiologia , Neurônios/metabolismo , Acuidade Visual/fisiologia , Ambliopia/genética , Animais , Dominância Ocular/genética , Feminino , Masculino , Camundongos , Receptor Nogo 1/genética , Receptor Nogo 1/metabolismo , Acuidade Visual/genética
3.
J AAPOS ; 21(6): 514-516, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29100834

RESUMO

Frank-ter Haar syndrome (FTHS) is an autosomal recessive disorder characterized by abnormalities that affect the development of bone, heart, and eyes. We report a sibling pair with FTHS caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene: one sibling had bilateral ocular hypertension and unilateral colobomas of iris, choroid and retina; the other, unilateral myelinated nerve fiber layer of the optic disk and papilledema due to idiopathic intracranial hypertension. Both children had refractive amblyopia and megalocornea.


Assuntos
Anormalidades Múltiplas/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Anormalidades Craniofaciais/genética , Anormalidades do Olho/genética , Cardiopatias Congênitas/genética , Mutação , Osteocondrodisplasias/congênito , Anormalidades Múltiplas/diagnóstico , Ambliopia/genética , Pré-Escolar , Corioide/anormalidades , Coloboma/genética , Análise Mutacional de DNA , Deficiências do Desenvolvimento/genética , Anormalidades do Olho/diagnóstico , Oftalmopatias Hereditárias/genética , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Iris/anormalidades , Masculino , Fibras Nervosas Mielinizadas/patologia , Hipertensão Ocular/genética , Disco Óptico/patologia , Osteocondrodisplasias/genética , Irmãos
4.
Can J Ophthalmol ; 51(2): 113-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27085269

RESUMO

OBJECTIVE: To analyze ocular involvement in patients diagnosed with Marfan syndrome (MFS), study their clinical findings and prognosis based on the type of FBN1 mutation, and evaluate possible genotype-phenotype correlations. DESIGN: Observational single-centre case series. PARTICIPANTS: Eleven patients diagnosed with MFS were included. All subjects met the Ghent criteria of MFS, the diagnosis was confirmed by genetic testing. METHODS: All subjects underwent a complete ophthalmologic examination. We evaluated clinical data, the incidence of ectopia lentis (EL), and other eye disorders. The association of ocular signs with the type of mutation was analyzed. RESULTS: Four of the 11 patients had EL, of which 3 developed secondary glaucoma, and 62.5% of the phakic patients had myopia. Other ocular abnormalities included strabismus, retinal tears, retinal detachment, and amblyopia. The encountered types of mutations were premature termination codon (PTC) in 7 patients, missense in 2 cases, 1 aberration of splicing, and 1 indel mutation. Two novel mutations were found. Of the patients with EL, 2 had a missense, 1 an indel, and 1 a nonsense mutation. CONCLUSIONS: Myopia was the most frequent ocular involvement. Patients with a PTC mutation revealed to have a smaller risk of EL; however, more studies are required to indicate the mechanism of the correlation.


Assuntos
Oftalmopatias/genética , Fibrilina-1/genética , Estudos de Associação Genética , Síndrome de Marfan/genética , Mutação , Adolescente , Adulto , Idoso , Ambliopia/diagnóstico , Ambliopia/genética , Sequência de Aminoácidos , Sequência de Bases , Criança , Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/genética , Oftalmopatias/diagnóstico , Feminino , Glaucoma/diagnóstico , Glaucoma/genética , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Pessoa de Meia-Idade , Dados de Sequência Molecular , Miopia/diagnóstico , Miopia/genética , Doenças Retinianas/diagnóstico , Doenças Retinianas/genética
5.
Ophthalmologe ; 113(4): 283-8, 2016 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-27037554

RESUMO

BACKGROUND: Amblyopia is the main cause for mostly monocular, impaired vision in childhood. Treatment and prevention of amblyopia is only effective during childhood. Ophthalmological screening of children does not yet exist in Germany. EPIDEMIOLOGY: The prevalence of amblyopia in Germany is 5.6%, which is higher than in reports from studies in Australia; however, the prevalence of amblyopia is not comparable in these studies due to different definitions of amblyopia and the inclusion/exclusion criteria of the study cohorts. At present it is unknown at what age ophthalmological screening should be carried out to prevent amblyopia and the appropriate frequency of screening examinations. CAUSES: Amblyopia is a disorder of the visual cortex that is due to suppression and deprivation of one eye leading to unilateral visual impairment. Approximately 50% of cases of amblyopia are caused by anisometropia, 25% by strabismus and in every sixth person by a combination of both. Other causes, such as unilateral congenital cataracts are relatively rare. RISK FACTORS: A variety of factors, such as ocular pathologies, premature birth, familial disposition and general diseases are associated with an increased risk for amblyopia.


Assuntos
Ambliopia/epidemiologia , Ambliopia/genética , Anisometropia/epidemiologia , Anisometropia/genética , Estrabismo/epidemiologia , Estrabismo/genética , Ambliopia/diagnóstico , Anisometropia/diagnóstico , Causalidade , Comorbidade , Predisposição Genética para Doença , Alemanha/epidemiologia , Prevalência , Fatores de Risco , Estrabismo/diagnóstico
6.
Cereb Cortex ; 26(5): 1975-85, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-25662716

RESUMO

The formation and stability of dendritic spines on excitatory cortical neurons are correlated with adult visual plasticity, yet how the formation, loss, and stability of postsynaptic spines register with that of presynaptic axonal varicosities is unknown. Monocular deprivation has been demonstrated to increase the rate of formation of dendritic spines in visual cortex. However, we find that monocular deprivation does not alter the dynamics of intracortical axonal boutons in visual cortex of either adult wild-type (WT) mice or adult NgR1 mutant (ngr1-/-) mice that retain critical period visual plasticity. Restoring normal vision for a week following long-term monocular deprivation (LTMD), a model of amblyopia, partially restores ocular dominance (OD) in WT and ngr1-/- mice but does not alter the formation or stability of axonal boutons. Both WT and ngr1-/- mice displayed a rapid return of normal OD within 8 days after LTMD as measured with optical imaging of intrinsic signals. In contrast, single-unit recordings revealed that ngr1-/- exhibited greater recovery of OD by 8 days post-LTMD. Our findings support a model of structural plasticity in which changes in synaptic connectivity are largely postsynaptic. In contrast, axonal boutons appear to be stable during changes in cortical circuit function.


Assuntos
Ambliopia/fisiopatologia , Dominância Ocular , Plasticidade Neuronal , Receptor Nogo 1/fisiologia , Terminações Pré-Sinápticas/fisiologia , Córtex Visual/fisiopatologia , Ambliopia/genética , Animais , Modelos Animais de Doenças , Feminino , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Neurônios/fisiologia , Receptor Nogo 1/genética , Privação Sensorial , Acuidade Visual/fisiologia , Córtex Visual/citologia
7.
Dev Neurosci ; 37(1): 14-28, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25402196

RESUMO

Little is known about the retinal cellular basis of amblyopia, which is a developmental disease characterized by impaired visual acuity. This study examined the retinal transcripts associated with experimentally induced unilateral amblyopia in rats. Surgical tarsorrhaphy of the eyelids on one side was performed in pups prior to eye opening at postnatal day 14, thereby preventing any visual experience. This condition was maintained for over 2 months, after which electroretinograms (ERGs) were recorded, the retinal ganglion cell (RGC) arrangement and number were determined using neuroanatomical tracing, the retinal transcripts were studied using microarray analysis, regulated mRNAs were confirmed with quantitative reverse-transcriptase PCR, and proteins were stained using Western blotting and immunohistochemistry. An attenuated ERG was found in eyes that were deprived of visual experience. Retrograde neuroanatomical staining disclosed a larger number of RGCs within the retina on the visually deprived side compared to the non-deprived, control side, and a multilayered distribution of RGCs. At the retinomic level, several transcripts associated with retinal differentiation, such as fibroblast growth factor 2 (FGF-2), were either up- or downregulated. Most of the transcripts could be verified at the mRNA level. To unravel the role of a differentiation-associated protein, we tested FGF-2 in dissociated postnatal retinal cell cultures and found that FGF-2 is a potent factor triggering ganglion cell differentiation. The data suggest that visual experience shapes the postnatal retinal differentiation, whereas visual deprivation induces changes at the functional, cellular and molecular levels within the retina.


Assuntos
Ambliopia/metabolismo , Diferenciação Celular/fisiologia , Fator 2 de Crescimento de Fibroblastos/genética , Fator 2 de Crescimento de Fibroblastos/metabolismo , Retina/metabolismo , Células Ganglionares da Retina/citologia , Células Ganglionares da Retina/metabolismo , Ambliopia/genética , Animais , Células Cultivadas , Regulação da Expressão Gênica , RNA Mensageiro/genética , Ratos Sprague-Dawley , Retina/crescimento & desenvolvimento , Regulação para Cima
9.
Semin Ophthalmol ; 28(5-6): 321-6, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24138041

RESUMO

Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.


Assuntos
Ambliopia/genética , Catarata/congênito , Privação Sensorial , Humanos
10.
Br J Ophthalmol ; 96(5): 650-5, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22267527

RESUMO

AIM: To clinically and genetically characterise central pulverulent cataract in a consecutive cohort of children from the Arabian Peninsula who were referred for ophthalmic evaluation. METHODS: Ophthalmic examination, homozygosity mapping in a consanguineous family and candidate gene analysis. RESULTS: All 16 children (4-16 years old, mean 9 years; seven girls and nine boys from 10 families) had bilateral central nuclear dust-like lenticular opacities. Two patients (one family) had cortical riders and six had associated strabismus. Cycloplegic retinoscopy was usually hyperopic (13/16; right eye spherical equivalent +0.50 to +6.25 dioptres, mean +3.50) but was sometimes myopic (3/16; right eye spherical equivalent -0.50 to -11.75, mean -6.50). In children with amblyopia (5/16), the cause was significant uncorrected ametropias rather than the lens opacities. Three patients had uncomplicated unilateral cataract surgery suggested by an outside second opinion that did not improve best-corrected visual acuity. Homozygosity mapping for one consanguineous family suggested the candidate gene CRYBB1. Sequencing of this gene revealed a homozygous c.171del mutation (p.N58Tfs*107) with a shared haplotype in all 16 children. In asymptomatic carrier parents from five of the six families available for careful slit-lamp examination, occasional central dot lenticular opacities were documented. CONCLUSIONS: Central pulverulent cataract in this consanguineous population does not significantly impact visual acuity during early childhood, can be associated with significant ametropias (with amblyopia and/or strabismus) and is specific for a homozygous CRYBB1 founder mutation. Primary management in children is typically spectacle correction based on cycloplegic retinoscopy to treat significant refractive error rather than paediatric cataract surgery.


Assuntos
Catarata/genética , Consanguinidade , Mutação da Fase de Leitura/genética , Cadeia B de beta-Cristalina/genética , Adolescente , Ambliopia/genética , Catarata/patologia , Catarata/terapia , Criança , Pré-Escolar , Óculos , Feminino , Homozigoto , Humanos , Masculino , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , Retinoscopia , Arábia Saudita , Estrabismo/genética , Acuidade Visual/fisiologia
11.
Ophthalmology ; 118(7): 1435-43, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21310494

RESUMO

PURPOSE: To describe clinical characteristics, including visual acuity (VA), genetic analysis, and management of complications, over a 30-year period in an African American family with macular dystrophy of the retina, locus 1 (MCDR1), commonly referred to as "North Carolina macular dystrophy." DESIGN: Observational, cohort study. PARTICIPANTS: Twelve family members from a 4-generation pedigree. METHODS: A total of 12 African American patients in an affected family were examined. Clinical examination was documented during 2 different follow-up periods from 1979 to 1982 in 10 patients and from 2005 to 2009 in 11 patients. Genetic analysis was performed in 4 affected members during this time. Foveal microperimetry, fundus autofluorescence, and spectral domain optical coherence tomography (OCT) data were also obtained. MAIN OUTCOME MEASURES: Change in VA of 8 members followed over 3 decades and clinical data and management of complications for all patients. RESULTS: Nine of 11 living family members had classic findings ranging from disease grade 2 (confluent foveal drusen, 8 eyes) to grade 3 (central coloboma-like lesion, 10 eyes). Two members developed choroidal neovascularization (CNV) requiring laser ablation, and 1 member developed non-clearing vitreous hemorrhage and underwent 25-gauge pars plana vitrectomy. Another family member developed exotropia and amblyopia in 1 eye by age 7 years. Those without CNV had no significant change in VA over 30 years. Linkage studies of 4 affected family members showed the same short tandem repeats on markers spanning D6S249 and D6S283 within the MCDR1 region of chromosome 6q16. Microperimetry analysis of an affected member with grade 3 MCDR1 revealed absent function in the region of the central coloboma-like lesions, corresponding to photoreceptor absence on OCT, although there were preserved foveal function and intact photoreceptors adjacent to the lesion. CONCLUSIONS: This African American family shares similar clinical findings as other MCDR1 pedigrees and the same haplotype as the originally described family from North Carolina. Clinical characteristics, including retinal features and stable VA in the absence of amblyopia and CNV, are similar to those in other reports. Eccentric viewing around impaired photoreceptors may explain good VA in patients with clinically severe-appearing macular lesions. Sequencing of the MCDR1 interval may help identify a protein responsible for early macular development. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.


Assuntos
Afro-Americanos/genética , Mapeamento Cromossômico , Proteínas do Olho/genética , Degeneração Macular/genética , Adolescente , Adulto , Idoso , Ambliopia/genética , Neovascularização de Coroide/genética , Cromossomos Humanos Par 6 , Estudos de Coortes , Coloboma/genética , Exotropia/genética , Feminino , Seguimentos , Fundo de Olho , Ligação Genética , Haplótipos , Humanos , Degeneração Macular/complicações , Degeneração Macular/patologia , Degeneração Macular/fisiopatologia , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Linhagem , Retina/patologia , Índice de Gravidade de Doença , Tomografia de Coerência Óptica , Acuidade Visual , Hemorragia Vítrea/etiologia , Adulto Jovem
12.
Klin Monbl Augenheilkd ; 227(10): 786-91, 2010 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-20963681

RESUMO

BACKGROUND: Joubert syndrome (JS) belongs to the ciliopathies and is a mostly autosomal recessively inherited disease (in the case of OFD1 mutations, JS is an X-linked trait). It is characterised by midbrain-hindbrain malformations with developmental delay, hypotonia and ataxia and a broad spectrum of other facultative findings. The aim of our study was to examine the ophthalmological and neuro-ophthalmological features of JS in our patients and to compare our findings to those of other studies. METHODS: In a retrospective study we evaluated the ophthalmological and neuro-ophthalmological findings of 9 consecutive patients who met the diagnostic criteria of JS. RESULTS: All patients had abnormalities of ocular motility, 4/9 used head thrusts to shift gaze (oculomotor apraxia OMA). In 6/8 patients, the optokinetic reflex (OKN) was absent. Furthermore, 8/9 children showed nystagmus, mostly see-saw nystagmus. Manifest strabismus was found in 8/9 while 3/9 had a retinopathy with either abnormal ERG and/or fundus appearance with or without visual impairment. Chorioretinal colobomata were present in 5/9 cases. Two patients showed a unilateral congenital ptosis, one a facial nerve paresis. CONCLUSIONS: The early neuro-ophthalmological findings in JS are not pathognonomic, but may lead to the diagnosis of JS. The syndrome should be suspected in patients with nystagmus, especially see-saw nystagmus, and abnormal OKN and/or OMA, and/or colobomata of the fundus, and further paediatric examinations should be initiated.


Assuntos
Doenças Cerebelares , Coloboma , Doenças Renais Policísticas , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Ambliopia/diagnóstico , Ambliopia/genética , Antígenos de Neoplasias/genética , Blefaroptose/diagnóstico , Blefaroptose/genética , Tronco Encefálico/anormalidades , Tronco Encefálico/patologia , Doenças Cerebelares/classificação , Doenças Cerebelares/diagnóstico , Doenças Cerebelares/genética , Cerebelo/anormalidades , Cerebelo/patologia , Criança , Pré-Escolar , Coloboma/classificação , Coloboma/diagnóstico , Coloboma/genética , Consanguinidade , Análise Mutacional de DNA , Eletrorretinografia , Paralisia Facial/diagnóstico , Paralisia Facial/genética , Feminino , Fundo de Olho , Humanos , Imagem por Ressonância Magnética , Masculino , Proteínas de Membrana/genética , Proteínas de Neoplasias/genética , Nistagmo Optocinético/genética , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/genética , Doenças Renais Policísticas/classificação , Doenças Renais Policísticas/diagnóstico , Doenças Renais Policísticas/genética , Refração Ocular , Estudos Retrospectivos , Estrabismo/diagnóstico , Estrabismo/genética , Acuidade Visual , Adulto Jovem
13.
J Pediatr Ophthalmol Strabismus ; 47 Online: e1-2, 2010 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-21214152

RESUMO

As part of the Genes In Myopia (GEM) Study, the authors describe a pair of monozygotic twins who presented with discordant hypermetropia. Both twins also reported amblyopia, but the cause differed. The phenomenon of refractive discordance in twins is rare, with this case representing only the second to ever be reported.


Assuntos
Ambliopia/genética , Doenças em Gêmeos/genética , Hiperopia/genética , Mosaicismo , Gêmeos Monozigóticos/genética , Idoso , Humanos , Masculino , Refração Ocular/fisiologia , Sistema de Registros , Inquéritos e Questionários , Acuidade Visual/fisiologia
14.
Mol Vis ; 14: 1401-13, 2008 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-18682807

RESUMO

PURPOSE: Amblyopia is the most common cause of visual impairment in children. Early detection of amblyopia and subsequent intervention are vital in preventing visual loss. Understanding the molecular pathogenesis of amblyopia would greatly facilitate development of therapeutic interventions. An animal model of amblyopia induced by monocular vision deprivation has been extensively studied in terms of anatomic and physiologic alterations that affect visual pathways. However, the molecular events underlying these changes are poorly understood. This study aimed to characterize changes of gene expression profiles in the lateral geniculate nucleus (LGN) associated with amblyopia induced by monocular visual deprivation. METHODS: Monocular vision deprivation was generated by either opaque dark contact lens or tarsorrhaphy of newborn rhesus monkeys. LGN was harvested at two or four months following induction of vision deprivation. Laser capture microdissection was used to obtain individual LGN layers for total RNA isolation. Linear T7-based in vitro RNA amplification was used to obtain sufficient RNA to conduct DNA microarray studies. The resulting Affymetrix GeneChip Expression data were analyzed using Affymetrix GeneChip Operating Software. Real-time quantitative polymerase chain reaction and in situ hybridization were used to further analyze expression of selected genes. RESULTS: Using 52,699 microarray probe sets from a Rhesus array, we identified 116 transcripts differentially expressed between deprived and nondeprived parvocellular layers: 45 genes were downregulated and 71 genes were upregulated in deprived parvocellular layers. We also observed substantial changes in deprived magnocellular laminae: 74 transcripts exhibited altered expression, 42 genes were downregulated, and 32 genes were upregulated. The genes identified in this study are involved in many diverse processes, including binding (calcium ion binding, nucleic acid binding, and nucleotide binding), catalytic activity, and signal transducer activity. CONCLUSIONS: There were significant differences in gene expression profiles between deprived and nondeprived parvocellular layers and magnocellular laminae of LGN. These alterations in gene expression may play a critical role in the molecular pathogenesis of amblyopia. The genes identified in this study may provide potential targets for therapeutic intervention of this disease.


Assuntos
Ambliopia/genética , Perfilação da Expressão Gênica , Corpos Geniculados/metabolismo , Corpos Geniculados/patologia , Lasers , Microdissecção , Visão Monocular/genética , Animais , Animais Recém-Nascidos , Modelos Animais de Doenças , Regulação para Baixo/genética , Hibridização In Situ , Macaca , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Receptores de GABA-A/genética , Receptores de GABA-A/metabolismo , Reprodutibilidade dos Testes , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Regulação para Cima/genética
15.
Curr Opin Neurobiol ; 18(1): 101-7, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18534841

RESUMO

Neural circuits are shaped by experience in early postnatal life. The permanent loss of visual acuity (amblyopia) and anatomical remodeling within primary visual cortex following monocular deprivation is a classic example of critical period development from mouse to man. Recent work in rodents reveals a residual subthreshold potentiation of open eye response throughout life. Resetting excitatory-inhibitory balance or removing molecular 'brakes' on structural plasticity may unmask the potential for recovery of function in adulthood. Novel pharmacological or environmental interventions now hold great therapeutic promise based on a deeper understanding of critical period mechanisms.


Assuntos
Envelhecimento/genética , Período Crítico Psicológico , Plasticidade Neuronal/genética , Córtex Visual/crescimento & desenvolvimento , Vias Visuais/crescimento & desenvolvimento , Ambliopia/genética , Animais , Humanos , Camundongos , Modelos Animais , Ratos , Recuperação de Função Fisiológica/genética , Roedores/genética , Roedores/crescimento & desenvolvimento , Roedores/metabolismo , Privação Sensorial/fisiologia , Córtex Visual/citologia , Córtex Visual/metabolismo , Vias Visuais/citologia , Vias Visuais/metabolismo
17.
Rev Prat ; 57(18): 2003-8, 2007 Nov 30.
Artigo em Francês | MEDLINE | ID: mdl-18326434

RESUMO

The refractive error and the strabismus are the most frequent of the visual abnormalities of the children. Without early treatment a high bilateral refractive error produces a bilateral amblyopia. The asymmetric refractive error and the strabismus can produce unilateral amblyopia when the treatment is delayed (glasses for the first and glasses and alternative fixation for the last). The early diagnosis is necessary to a preventive action. The search of these anomalies is systematic when the family has history of amblyopia or strabismus. Sometimes, a strabismus is the first manifestation of a severe visual abnormality, the ophthalmologist must quickly examinate all the children with a strabismus. The other high abnormalities of visual function (cataracte, glaucoma, retinal disease) cause a comportemental dysfunction and/or involve ocular modifications. Most of these visual manifestations are diagnosed with an attentive easy examination of the children.


Assuntos
Erros de Refração/diagnóstico , Transtornos da Visão/diagnóstico , Ambliopia/diagnóstico , Ambliopia/genética , Catarata/diagnóstico , Criança , Pré-Escolar , Diagnóstico Precoce , Óculos , Glaucoma/diagnóstico , Humanos , Lactente , Exame Físico , Doenças Retinianas/diagnóstico , Estrabismo/diagnóstico , Estrabismo/genética , Testes Visuais , Acuidade Visual/fisiologia
18.
J AAPOS ; 10(5): 435-44, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17070479

RESUMO

BACKGROUND/PURPOSE: Despite the similar clinical phenotype of the Saethre-Chotzen and Muenke craniosynostoses, the 2 syndromes are now genotypically distinct. Patients with Saethre-Chotzen and Muenke syndromes carry mutations in the TWIST and fibroblast growth factor receptor (FGFR) 3 genes, respectively. We sought to assess possible ocular phenotypic differences in patients with mutations of either gene previously grouped according to phenotype only. METHODS: A retrospective chart review was performed for 21 children with known mutations of the TWIST (n=10) or the FGFR3 (n=11) genes. Data gathered included patient sex, age, family craniofacial history, craniofacial and ophthalmic surgeries, type of strabismus, ptosis, cycloplegic refraction, visual acuity, the presence of amblyopia, nasolacrimal duct obstruction (NLDO), nystagmus, hypertelorism, epicanthal fold anomalies, and any ocular structural abnormalities. RESULTS: In the TWIST group, ptosis was present in 90%, amblyopia in 70%, horizontal strabismus in 70%, vertical strabismus in 60%, NLDO in 60%, astigmatism in 50%, inferior oblique overaction (IOOA) in 40%, hyperopia in 40%, myopia in 30%, nystagmus in 30%, and optic nerve findings in 30%. In the FGFR3 group, ptosis was present in 36%, amblyopia in 18%, horizontal strabismus in 55%, vertical strabismus in 36%, NLDO in 0%, astigmatism in 9%, IOOA in 45%, hyperopia in 27%, myopia in 18%, nystagmus in 18%, and optic nerve findings in 27%. CONCLUSIONS: Patients with TWIST gene mutations may have more ophthalmic abnormalities, including more strabismus, ptosis, NLDO, astigmatism, vertical deviations, and amblyopia compared with patients with FGFR3 gene mutations.


Assuntos
Anormalidades Múltiplas/genética , Acrocefalossindactilia/genética , Anormalidades do Olho/genética , Mutação , Proteínas Nucleares/genética , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Proteína 1 Relacionada a Twist/genética , Adolescente , Adulto , Ambliopia/genética , Astigmatismo/genética , Blefaroptose/genética , Criança , Pré-Escolar , Craniossinostoses/genética , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Doenças do Aparelho Lacrimal/genética , Masculino , Fenótipo , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Estrabismo/genética
20.
Ophthalmic Genet ; 26(1): 9-15, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15823920

RESUMO

PURPOSE: To characterize the phenotype of two families with high hypermetropia from the Faroe Islands. METHODS: Ophthalmologic evaluation including ultrasound oculometry and anthropometric measurements. RESULTS: Of the 40 examined family members, 15 individuals (8 males, 7 females; ages: 6-77 years; mean: 36.5 years) had small deep-set eyes with high hypermetropia (median: + 16.5 D; range: + 7.75 to + 22), short axial eye length (< 21 mm), and a thickened eye wall. The median corrected visual acuity was 0.4 (0.2-0.9). Ocular complications included angle-closure glaucoma in six eyes, uveal effusion in three eyes, cataract in two eyes, and esotropia with amblyopia in three eyes. An emergency case of uveal effusion and retinal detachment after Yag iridotomy eventually responded to systemic corticosteroids and scleral resection surgery with a slow visual recovery. No associated ocular or systemic malformations were found in the series. In addition to the two examined families, six smaller Faroese families with high hypermetropia are briefly reported. CONCLUSIONS: The study highlights the signs and symptoms of a rare hereditary phenotype characterized by a short axial length mainly confined to the posterior segment of the eye, a shallow anterior chamber, and a thickened eye wall. The morphological characteristics predispose for sight-threatening complications such as angle-closure glaucoma, chorioretinal pathology including uveal effusion, and amblyopia. Regular ophthalmic follow-up is therefore of obvious importance in families known to have small eyes/high hypermetropia. An endemic high prevalence in the Faroe Islands suggests the presence of a founder effect, and further genetic research would probably indicate pseudodominant rather than dominant transmission


Assuntos
Hiperopia/genética , Adolescente , Adulto , Idoso , Ambliopia/genética , Ambliopia/patologia , Ilhas Atlânticas , Catarata/genética , Catarata/patologia , Criança , Pré-Escolar , Feminino , Glaucoma de Ângulo Fechado/genética , Glaucoma de Ângulo Fechado/patologia , Humanos , Lactente , Masculino , Microftalmia/genética , Pessoa de Meia-Idade , Linhagem , Acuidade Visual
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