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1.
Retina ; 44(1): 175-178, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37972987

RESUMO

PURPOSE: To describe modification of the suprachoroidal buckling technique for the treatment of rhegmatogenous retinal detachment (RRD), which may improve the safety profile. METHODS: A single-surgeon foot-pedal-controlled automated suprachoroidal injection (SCI) of sodium hyaluronate 1%, namely ProVisc (Alcon Laboratories, Fort Worth, TX) was used for the treatment of RRD. MicroDose Injection Kit (MedOne Surgical, Sarasota, FL) including a connector and a 1-mL syringe, designed for subretinal injection, was used to adapt Constellation Vision System (Alcon Laboratories) console for SCI of ProVisc from the 1-mL syringe. RESULTS: This approach enables better surgeon control during SCI. Three highly myopic eyes of three patients with primary macula-on RRD and single superior peripheral retinal break were treated. Complete retinal reattachment was achieved in all eyes without complications. CONCLUSION: Injecting ProVisc under foot-pedal control provides a more precise and potentially safer suprachoroidal buckling technique compared with the manual technique with more variable injection speed and pressure.


Assuntos
Descolamento Retiniano , Perfurações Retinianas , Humanos , Descolamento Retiniano/etiologia , Recurvamento da Esclera/métodos , Resultado do Tratamento , Perfurações Retinianas/cirurgia , Retina , Vitrectomia/efeitos adversos , Estudos Retrospectivos
2.
Int J Mol Sci ; 25(12)2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38928147

RESUMO

We present a case involving a patient whose clinical phenotype aligns with oculocutaneous albinism (OCA), yet exhibits a complex genotype primarily characterized by variants of unknown significance (VUS). An 11-year-old boy manifested iris hypopigmentation and translucency, pronounced photophobia, diminished visual acuity and stereopsis, nystagmus, reduced pigmentation of the retina, and foveal hypoplasia. Genetic testing was performed. A heterozygous missense VUS CAPN5 c.230A>G, p.(Gln77Arg), a heterozygous missense VUS TYR c.1307G>C, p.(Gly436Ala), and a heterozygous missense variant TYR c.1205G>A, p.(Arg402Gln) which was classified as a risk factor, were identified. We hypothesized that the TYR c.1307G>C, p.(Gly436Ala) variant is in genetic disequilibrium with the TYR c.1205G>A, p.(Arg402Gln) variant leading to deficient expression of melanogenic enzymes in retinal cells, resulting in the manifestation of mild OCA. Additionally, this study represents the case where we did not detect chiasmal misrouting in visual evoked potentials, nor did we observe a shift in the distribution of ganglion cell thickness from a temporal to a central position. Moreover, our patient's case supports the probable benign nature of the CAPN5 c.230A>G, p.(Gln77Arg) variant.


Assuntos
Calpaína , Monofenol Mono-Oxigenase , Humanos , Masculino , Criança , Calpaína/genética , Monofenol Mono-Oxigenase/genética , Mutação de Sentido Incorreto , Vitreorretinopatia Proliferativa/genética , Vitreorretinopatia Proliferativa/patologia , Albinismo Oculocutâneo/genética , Fenótipo , Linhagem
3.
Int J Mol Sci ; 24(15)2023 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-37569264

RESUMO

Pathogenic variants in IMPDH1 are associated with autosomal dominant retinitis pigmentosa 10 (RP10), and Leber congenital amaurosis 11. This case report of a 13-year-old girl with Down's syndrome and keratoglobus is aimed at linking the novel variant IMPDH1 c.134A>G, p.(Tyr45Cys), a variant of uncertain significance, to a clinical phenotype and to provide grounds for the objective assignment of its benign features. RP10 is characterized by the early onset and rapid progression of ocular symptoms, beginning with nyctalopia in childhood, accompanied by typical RP fundus changes. As evidenced via thorough clinical examination and testing, none of the RP10 characteristics were present in our patient. On the contrary, our patient who was heterozygous for IMPDH1 c.134A>G, p.(Tyr45Cys) showed no signs of peripheral retinal dystrophy, and did not manifest any disease characteristics typical of the IMPDH1 gene mutation. Consequently, we conclude that the variant did not contribute to the phenotype. According to standards and guidelines for the interpretation of sequence variants, IMPDH1 c.134A>G, p.(Tyr45Cys) revealed likely benign features.


Assuntos
Relevância Clínica , Retinose Pigmentar , Humanos , Genótipo , IMP Desidrogenase/genética , Mutação , Linhagem , Fenótipo , Retinose Pigmentar/genética , Feminino , Adolescente
4.
Curr Issues Mol Biol ; 44(12): 6397-6403, 2022 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-36547097

RESUMO

RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in the visual cycle. In patients with inherited retinal dystrophy (IRD), precise genetic diagnosis is an indispensable approach as it is required to establish eligibility for the genetic treatment of RPE65-associated IRDs. This case report aims to report the specific phenotype−genotype correlation of the first patient with a homozygous missense variant RPE65 c.499G>T, p. (Asp167Tyr). We report a case of a 66-year-old male who demonstrated a unique phenotype manifesting less severe functional vision deterioration in childhood and adolescence, and extensive nummular pigment clusters. The underlying causes of the differences in the typical bone spicule and atypical nummular pigment clumping are unknown, but suggest that the variant itself influenced the rate of photoreceptor death. Functional studies are needed to define whether the substitution of aspartate impairs the folding of the tertiary RPE65 structure only and does not lead to the complete abolishment of chromophore production, thus explaining the less severe phenotype in adolescence.

5.
Int J Mol Sci ; 23(18)2022 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-36142423

RESUMO

Precise genetic diagnosis in RPE65-mediated retinitis pigmentosa (RP) is necessary to establish eligibility for genetic treatment with voretigene neparvovec: a recombinant adeno-associated viral vector providing a functional RPE65 gene. This case report aims to report a novel RP-related point mutation RPE65 c.353G>A, p.(Arg118Lys), a variant of uncertain significance associated with a severe clinical presentation and the striking phenotypic feature of complete macular atrophy. We report the case of a 40-year-old male with inherited retinal dystrophy, all features typical for the RPE65-associated RP, and marked macular atrophy. Genetic testing identified that the patient was a compound heterozygote in trans form with two heterozygous variants: RPE65 c.499G>T, p.(Asp167Tyr) and RPE65 c.353G>A, p.(Arg118Lys). Furthermore, short-wavelength and near-infrared autofluorescence patterns exhibited deficiencies specific to mutations in the visual cycle genes. To the best of our knowledge, RPE65 c.353G>A, p.(Arg118Lys) is the first described point mutation on this locus, among all other reported insertional mutations, currently classified as likely benign and of uncertain significance. We concluded that this variant contributed to the pathological phenotype, demonstrating its significance clearly to be reclassified as likely pathogenic. This being the case, patients with this specific variant in homozygous or compound heterozygous form would be likely candidates for genetic treatment with voretigene neparvovec.


Assuntos
Distrofias Retinianas , Retinose Pigmentar , Atrofia , Humanos , Masculino , Mutação , Mutação Puntual , Distrofias Retinianas/genética , Retinose Pigmentar/genética , Retinose Pigmentar/patologia , cis-trans-Isomerases/genética
6.
BMC Ophthalmol ; 21(1): 71, 2021 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-33541327

RESUMO

BACKGROUND: The purpose of the study is to investigate the changes of macular perfusion by OCT-angiography (OCT-A) after uncomplicated phacoemulsification. METHODS: OCT-A was performed before cataract surgery, 1 week, 1 month, and 3 months after surgery recording superficial vascular complex (SVC), nerve fiber layer vascular plexus (NFLVP), superficial vascular plexus (SVP), deep vascular complex (DVC), intermediate capillary plexus (ICP) and deep capillary plexus (DCP), as well as large choroidal blood vessels and choriocapillaris (CC). Explant area (EA), vessels area (VA), vessels percentage area (VPA), total number of junctions (TNJ), junctions density (JD), total vessels length (TVL), average vessels length (AVL), total number of end points (TNEP), and mean lacunarity (ML) throughout all layers were analysed. RESULTS: Significant changes of vascular parameters in 55 eyes of 55 patients mostly reached plateau one week after surgery and remained stable up to 3 m after surgery, occurring in all retinal layers but not in choroid and CC. The greatest increase in VPA (22.79%), TVL (16.71%), AVL (166.71%) and JD (29.49%) was in SVC. On the contrary, the greatest change of ML (- 53.41%) appeared in DVC. CONCLUSIONS: This is the first OCT-A study demonstrating perfusion alterations in macula after phacoemulsification due to functional hyperaemia. We presume the effect is evoked by increased light intensity stimulation of retina after cataract removal. Accordingly, phacoemulsification in elderly population could have advantageous feature in addition to restoring visual acuity.


Assuntos
Facoemulsificação , Tomografia de Coerência Óptica , Idoso , Angiofluoresceinografia , Humanos , Perfusão , Vasos Retinianos/diagnóstico por imagem
7.
BMC Ophthalmol ; 21(1): 354, 2021 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-34610816

RESUMO

BACKGROUND: The purpose of this cross-sectional study involving healthy emmetropic four-year-old Caucasian children was to provide a macular perfusion normative database acquired with optical coherence tomography angiography (OCTA). One eye of each examinee underwent OCTA imaging. The following parameters were analyzed using AngioTool Image J software: vessels area (VA), vessels density (VD), total number of junctions (TNJ), junctions density (JD), total vessel length (TVL), average vessel length (AVL), total number of endpoints (TNEP), lacunarity (L), vessel diameter index (VDI), tortuosity (T) and foveal avascular zone (FAZ). Average central macular thickness (CMT) and average central macular volume (CMV) were measured. RESULT: Sixty-two eyes of 62 children of average age 50.4 ± 3.8 months were examined. VA, VD, and T increased from the inner towards the outer layers of the retina. The intermediate capillary plexus had the highest JD and TNEP and narrowest FAZ. Retinal sexual differentiation was supported with higher values of the retinal VA, VDI and TNEP, and chorioretinal VA, VDI and L in males. The choriocapillaris presented with the highest VD, AVL, and T and the lowest L and TNEP. CONCLUSION: The study provides the first detailed normative database of the macular vascular network in the youngest uniform cohort of emmetropic four-year-old children.


Assuntos
Macula Lutea , Tomografia de Coerência Óptica , Criança , Pré-Escolar , Estudos Transversais , Angiofluoresceinografia , Humanos , Macula Lutea/diagnóstico por imagem , Masculino , Perfusão
8.
BMC Ophthalmol ; 20(1): 434, 2020 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-33143669

RESUMO

BACKGROUND: In this case report, we present for the first time central retinal artery occlusion (CRAO) and central retinal vein occlusion (CRVO) as a complication of persistent hyaloid artery (PHA). CASE PRESENTATION: In August 2019, a six-year-old male patient manifested right eye (RE) excessive tearing, conjunctival injection and pain. On examination, RE demonstrated light perception and intraocular pressure of 36 mmHg. The diagnoses of neovascular glaucoma, CRVO and CRAO were established as affirmed with fluorescein angiography (FA). PHA was not reported. Extensive work-up and family history were unremarkable. The child was born on term after uncomplicated twin pregnancy. In December 2019, he was referred to our Centre. Transillumination revealed fully dilated, non-reactive RE pupil, clear lens and tubular remnant of HA containing blood cells in its lumen freely rotating in the anterior vitreous. CONCLUSIONS: PHA results from failure of apoptosis during gestation. It can easily be observed during the red reflex screening at neonatal wards. We hypothesized that PHA twisting led to torsion of the residual primordial common bulb, branching off to HA and CRA with CRAO occurring first. The consequential CRVO presumably advanced by venous stasis due to decrease in arterial inflow. Liquid vitreous appears as early as 4 years of age enabling PHA to whirl more freely. Thus, in case of PHA, we advocate FA to be performed and if connection with retinal artery is proven, parents should be informed on the possible devastating complications and prompt surgical treatment should be considered.


Assuntos
Vítreo Primário Hiperplásico Persistente , Oclusão da Artéria Retiniana , Artéria Retiniana , Oclusão da Veia Retiniana , Criança , Angiofluoresceinografia , Humanos , Recém-Nascido , Masculino , Oclusão da Artéria Retiniana/diagnóstico , Oclusão da Artéria Retiniana/etiologia , Oclusão da Veia Retiniana/diagnóstico , Oclusão da Veia Retiniana/etiologia
9.
Acta Clin Croat ; 59(3): 394-406, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34177048

RESUMO

We focused on the relationship of 0.5% tetracaine- and 0.4% oxybuprocaine-induced corneal anesthesia in rats, and pentadecapeptide BPC 157 (0.4 µg/eye), along with nitric oxide synthase (NOS) inhibitor N(gamma)-nitro-L-arginine methyl ester (L-NAME) (0.1 mg/eye) and/or NOS substrate L-arginine (2 mg/eye), applied in the form of eye drops. We assessed corneal sensitivity recovery (Cochet-Bonnet esthesiometer), corneal lesion elimination (staining with 10% fluorescein) and decrease in tear volume (Schirmer test). BPC 157 administration had a full counteracting effect. Recovery also occurred in the presence of NOS blockade and NOS substrate application. L-arginine eventually shortened duration of corneal insensitivity and exerted corneal lesion counteraction (and counteraction of tetracaine-induced decrease of tear volume) only in earlier but not in later period. L-NAME application led to longer duration of corneal insensitivity, increase in corneal lesions and decrease in tear volume. When L-NAME and L-arginine were applied together, they antagonized each other's effect. These distinctions may indicate particular NOS involvement (corneal insensitivity vs. corneal lesion along with tear production), distinctively affected by the administration of NO agents. However, additional BPC 157 co-administration would re-establish counteraction over topical ophthalmic anesthetic-induced effect, be it in its early or late course. We suggest BPC 157 as an antidote to topical ophthalmic anesthetics.


Assuntos
Óxido Nítrico , Tetracaína , Anestesia Local , Animais , Humanos , NG-Nitroarginina Metil Éster , Fragmentos de Peptídeos , Procaína/análogos & derivados , Proteínas , Ratos , Ratos Wistar
10.
Acta Clin Croat ; 58(1): 87-94, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31363329

RESUMO

The aim of the study was to assess biometric factor aberrations and differences among groups of eyes with cataract and pseudoexfoliative syndrome, cataract and pseudoexfoliative glaucoma, and cataract and primary open-angle glaucoma (POAG), and to determine biometric factors of the eye specific for the group of glaucomatous patients with pseudoexfoliative syndrome by use of optical low-coherence reflectometry. This retrospective study included 72 patients, and the study sample of 102 eyes was divided into the following three groups according to diagnosis: 29 eyes with pseudoexfoliative syndrome and cataract; 36 eyes with POAG and cataract; and 37 eyes with pseudoexfoliative glaucoma and cataract. Data on biometric measurements (central corneal thickness, pupillary diameter, anterior chamber depth, lens thickness, axial length, retinal thickness, astigmatism and white-to-white) obtained by use of optical low-coherence reflectometry on a Lenstar LS 900® (Haag-Streit International) were collected and analyzed by thorough survey of medical documentation of patients scheduled for cataract surgery at Department of Ophthalmology, Sveti Duh University Hospital in Zagreb, Croatia. Comparative analysis of the groups yielded statistically significant differences in central corneal thickness (F2/99=7.066; p=0.001) and lens thickness (F2/96=5.133; p=0.008). The group of eyes diagnosed with pseudoexfoliative glaucoma and cataract had a significantly thinner cornea as compared with the other two groups and a significantly thicker lens as compared with the group of eyes with POAG and cataract. In conclusion, optical low-coherence reflectometry revealed differences in biometric factors among the three groups of eyes, with a statistically significantly thinner cornea and thicker lens in the group of glaucomatous patients with pseudoexfoliative syndrome.


Assuntos
Biometria/métodos , Catarata/diagnóstico , Glaucoma/diagnóstico , Tomografia de Coerência Óptica/métodos , Idoso , Croácia , Técnicas de Diagnóstico Oftalmológico , Feminino , Humanos , Cristalino/patologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Retina/patologia , Estudos Retrospectivos
12.
Doc Ophthalmol ; 132(1): 67-73, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26803827

RESUMO

PURPOSE: To evaluate whether cystoid macular lesions respond to treatment with dorzolamide 2% drops in the enhanced S-cone syndrome (ESCS) child, as several case reports document favorable efficacy in adults. METHODS: Seven-year-old boy with ESCS and cystoid macular lesions was treated with dorzolamide 2% in both eyes three times a day for a period of 7 months. The efficacy of treatment was analyzed by visual acuity assessment (ETDRS), multifocal electroretinography and SD-OCT central foveal thickness (CFT) measurement. RESULTS: Baseline RE CFT was 540 and 453 µm in the LE, with amplitude of P1-wave density 39.8 and 50.4 nV/deg(2), respectively. Best corrected visual acuity (BCVA) was 0.3 logMAR RE and 0.3 logMAR LE at distance. At 7-month follow-up examination, CFT showed no reduction in thickness (RE 599 µm, LE 521 µm). P1-wave density increased (RE 49.1 nV/deg(2), LE 84.9 nV/deg(2)), with BCVA 0.3 logMAR RE and 0.2 logMAR LE. CONCLUSIONS: To the best of our knowledge, this is the youngest ESCS patient treated with dorzolamide drops and the first report recording that cystoid macular lesions are resistant to topical dorzolamide treatment. Furthermore, these data are in favor of the hypothesis that microcystoid changes in ESCS appear due to defects in cell-to-cell adhesion rather than the disintegration of the retinal barrier. The marked differences in treatment response to carbonic anhydrase inhibitors between the adults and the child here presented suggest that the breakdown of the blood-retinal barrier may play a more important role later in life.


Assuntos
Inibidores da Anidrase Carbônica/uso terapêutico , Oftalmopatias Hereditárias/tratamento farmacológico , Edema Macular/tratamento farmacológico , Degeneração Retiniana/tratamento farmacológico , Sulfonamidas/uso terapêutico , Tiofenos/uso terapêutico , Transtornos da Visão/tratamento farmacológico , Administração Tópica , Inibidores da Anidrase Carbônica/administração & dosagem , Criança , Eletrorretinografia , Oftalmopatias Hereditárias/fisiopatologia , Angiofluoresceinografia , Humanos , Edema Macular/fisiopatologia , Masculino , Soluções Oftálmicas , Retina/fisiopatologia , Degeneração Retiniana/fisiopatologia , Sulfonamidas/administração & dosagem , Tiofenos/administração & dosagem , Tomografia de Coerência Óptica , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia
13.
Croat Med J ; 57(1): 29-41, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26935612

RESUMO

AIM: To present and evaluate a new screening protocol for amblyopia in preschool children. METHODS: Zagreb Amblyopia Preschool Screening (ZAPS) study protocol performed screening for amblyopia by near and distance visual acuity (VA) testing of 15 648 children aged 48-54 months attending kindergartens in the City of Zagreb County between September 2011 and June 2014 using Lea Symbols in lines test. If VA in either eye was >0.1 logMAR, the child was re-tested, if failed at re-test, the child was referred to comprehensive eye examination at the Eye Clinic. RESULTS: 78.04% of children passed the screening test. Estimated prevalence of amblyopia was 8.08%. Testability, sensitivity, and specificity of the ZAPS study protocol were 99.19%, 100.00%, and 96.68% respectively. CONCLUSION: The ZAPS study used the most discriminative VA test with optotypes in line as they do not underestimate amblyopia. The estimated prevalence of amblyopia was considerably higher than reported elsewhere. To the best of our knowledge, the ZAPS study protocol reached the highest sensitivity and specificity when evaluating diagnostic accuracy of VA tests for screening. The pass level defined at ≤0.1 logMAR for 4-year-old children, using Lea Symbols in lines missed no amblyopia cases, advocating that both near and distance VA testing should be performed when screening for amblyopia.


Assuntos
Ambliopia/diagnóstico , Programas de Rastreamento/métodos , Testes Visuais , Acuidade Visual , Ambliopia/epidemiologia , Pré-Escolar , Croácia/epidemiologia , Estudos Transversais , Humanos , Prevalência , Instituições Acadêmicas , Sensibilidade e Especificidade
15.
Vision (Basel) ; 8(2)2024 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-38922184

RESUMO

The purpose was to define the threshold of normal visual acuity (VA), mean monocular and binocular VA, and interocular difference in the uniform cohort of healthy four-year-old children. All the children were recruited from the Croatian National Registry of Early Amblyopia Detection database. LEA Symbols® inline optotypes were used for VA testing at near and distance, binocularly and monocularly. The pass cut-off level was set to ≤0.1 logMAR. The final sample consisted of 58,712 four-year-old children. In total, 83.78% of the children had unremarkable results, and 16.22% of the children were referred to examination. Of those, 92% of the children were referred due to binocular, and 8% of the children due to monocular causes. The children referred due to binocular causes demonstrated a VA of 0.3 ± 0.24, while the children referred due to monocular causes 0.6 ± 0.21. The ROC curve analysis defined the uniform cut-off value for a normative VA of 0.78. We analyzed the largest uniform cohort of 58,712 children, and have determined normative data for binocular and monocular VA tested with gold standard logMAR chart in four-year-old children. The results presented here established no reasoning to further utilize historical protocols in testing VA in preschool children aged ≥ 4 years.

16.
Cornea ; 43(1): 59-62, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-36728315

RESUMO

PURPOSE: The aim of this study was to provide normative databases of Fourier analysis (FA) and Belin-Ambrósio enhanced ectasia display (BAD) in healthy White 4-year-old emmetropic children. METHODS: FA parameters analyzed were spherical component (SRmin), spherical eccentricity (SEcc), maximal decentration (MD), regular astigmatism at the center (Astigm. C) and periphery (Astigm. P), and irregularity (I). The parameters obtained by BAD included summary indicator BAD D, anterior corneal curvature (K1 and K2, D), maximal keratometry (Kmax, D), maximal Ambrósio relational thinnest (ART max), and pachymetric and BAD indices. RESULTS: Eighty-nine eyes of eighty-nine 4-year-old children were included. The mean values of FA parameters were the following: SRmin 7.77, SEcc 0.600, MD 0.160, Astigm. C 0.070, Astigm. P 0.050, and I 0.019. The mean K1 and K2 in our study group were 42.92 ± 1.29 D and 43.75 ± 1.41 D, with the mean BAD D value 0.42 ± 0.67. The mean PPI min 0.629 ± 0.117, PPI max 1.059 ± 0.155, PPI avg 0.847 ± 0.103, Kmax 44.10 ± 1.39, and median of ART max 515.0 were recorded. No statistically significant differences between male and female sex in any of FA or BAD parameters were found. CONCLUSIONS: This is the first study providing large normative data on FA and BAD in 4-year-old White emmetropic children. We proposed a cutoff D value for early ectasia and clinical keratoconus in 4-year-old children.


Assuntos
Córnea , Emetropia , Ceratocone , Pré-Escolar , Feminino , Humanos , Masculino , Paquimetria Corneana , Topografia da Córnea , Dilatação Patológica , Curva ROC , População Branca
17.
Ophthalmic Genet ; 44(3): 276-280, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-35904185

RESUMO

BACKGROUND: It is of utmost importance to define the molecular diagnosis of patients with retinitis pigmentosa (RP) due to existing targeted therapeutic option: voretigene neparvovec.We provide clinical evidence for pathogenicity reclassification of variants of uncertain significance (VUSs) RPE65 c.1580A>G (p.His527Arg). MATERIALS AND METHODS: A case report of a 10-year-old boy with progressive vision loss. The patient manifested disease highly suggestive of RPE65 retinal dystrophy: nyctalopia, fairly good central vision, severely depressed full-field electroretinography responses and complete loss of peripheral fundus aut ofluorescence. RESULTS: Invitae Inherited Retinal Disorders Panel identified likely pathogenic mutation RPE65 c.499G>T (p.Asp167Tyr) and RPE65 c.1580A>G (p.His527Arg), variant of uncertain significance. Segregation analysis confirmed that these variants are in trans. CONCLUSIONS: We conclude that the variant RPE65 c.1580A>G (p.His527Arg) has contributed to the pathologic phenotype, demonstrating its significance clearly in the case presented, and should be reclassified according to the criteria of evidence as pathogenic. Therefore, patients with this specific variant in homozygous or compound heterozygous form would likely benefit from genetic treatment based on recombinant adeno-associated virus vector, providing a working RPE65 gene to act in place of a mutated RPE65 gene.


Assuntos
Distrofias Retinianas , Retinose Pigmentar , Humanos , cis-trans-Isomerases/genética , Mutação , Distrofias Retinianas/genética , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/genética
18.
Graefes Arch Clin Exp Ophthalmol ; 250(1): 87-93, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21894533

RESUMO

PURPOSE: To evaluate optical ocular components in patients with pseudoexfoliation syndrome using optical low-coherence reflectometry. METHODS: A prospective cohort study of 224 eyes of patients planned for cataract surgery was conducted in the period from January 2009 until July 2009. Patients were divided in two groups: the first group of 47 eyes with cataract complicated with pseudoexfoliation syndrome and the control group of 177 eyes with uncomplicated cataract. Each group was further divided into two subgroups based on its refractive state: emmetropes and hypermetropes. The optical low-coherence reflectometry biometer LENSTAR LS 900 was used to define ocular optical components. RESULTS: A statistically significant difference of ocular optical components was established between the two groups of patients and its matching subgroups: AL (t = 2.25; p < 0.05) and ACD (t = 2.24; p < 0.05) were significantly higher in the control group, PD was significantly higher in the control group hypermetropes than the PEX group hypermetropes (t = 2.21; p < 0.05) while LT (t = 3.01; p < 0.001), AST (t = 2.13; p < 0.05) and IOL (t = 3.06; p < 0.001) were higher in the PEX group of patients than in the control group. CONCLUSIONS: The optical low-coherence reflectometry enabled preoperative detection of zonular weakness and subsequent lens instability documented as a significantly shallower anterior chamber, thicker lens, and smaller pupillary diameter in the pseudoexfoliation syndrome group in the studied population.


Assuntos
Catarata/diagnóstico , Técnicas de Diagnóstico Oftalmológico , Síndrome de Exfoliação/diagnóstico , Ligamentos/patologia , Tomografia de Coerência Óptica , Adulto , Idoso , Idoso de 80 Anos ou mais , Comprimento Axial do Olho , Biometria , Catarata/complicações , Síndrome de Exfoliação/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Facoemulsificação , Período Pré-Operatório , Estudos Prospectivos , Erros de Refração/diagnóstico
19.
Orbit ; 31(1): 27-9, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22007917

RESUMO

PURPOSE: To present a unique case of an early satellite metastatic uveal melanoma to the ipsilateral lower eyelid. METHODS: Retrospective review of the medical records of a single patient. RESULTS: A 71-year-old white male developed a fast growing, painless, solitary, subcutaneous, nodular mass in the medial half of his right lower eyelid 13 months after enucleation of the right eye for inferonasally located uveal melanoma of the spindle cell type. Microscopically excised eyelid tumor proved to be malignant melanoma of the epitheloid type. The patient underwent complete systemic examination including positron emission tomography that ruled out the primary cutaneous or visceral melanoma. CONCLUSION: The paper is, according to our knowledge, the first documented case of an early satellite metastatic uveal melanoma to the lower eyelid in the patient with no evidence of further metastases.


Assuntos
Neoplasias Palpebrais/secundário , Melanoma/secundário , Neoplasias Uveais/patologia , Idoso , Humanos , Masculino , Melanoma/patologia
20.
Coll Antropol ; 36(2): 447-50, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22856229

RESUMO

The paper presents a modified operative technique for involutional lower lid entropion. The prospective noncomparative study of 101 lower eyelids of 88 patients undergoing surgery for involutional lower lid entropion was conducted in period from September 2005 until March 2012. Indication for the surgery was entropion, previously untreated, with moderate to severe horizontal lid laxity and no clinically relevant medial and lateral canthal tendon laxity. The operative technique is our modification of Quickert and Jones procedures. Photo was taken preoperatively and one month after surgery. Clinical follow-up was at 7th postoperative day, one month and six months after surgery and in case of the recurrence. Long-term follow-up was obtained via telephone interviews. There were 44 male (50%) and 44 female (50%) patients included in the study. The age of patients was in average 73.27 +/- 8.1 years (range 53-90 years). Early postoperative complication was localized lid swelling found in two patients starting 4-6 weeks postoperatively at the area of absorbable suture. It resolved spontaneously in two and three weeks respectively. There was recurrence of entropion in 11 eyelids (10.89%) of 10 patients. The mean interval between primary surgery and the recurrence was 17.45 +/- 14.84 months (range 4-48 months). In these eyelids Jones procedure was performed. However in four eyelids of four patients from the recurrent group an additional surgery needed to be performed after 6, 12, 12 and 17 months respectively. Our modification of surgical treatment for involutional lower lid entropion was effective in 89.11% of eyelids. Complications of the procedure were scarce.


Assuntos
Entrópio/cirurgia , Pálpebras/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento
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