LONGITUDINAL STUDY OFRPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS

Purpose: To study the disease course ofRPE65-associated inherited retinal degenerations (IRDs) as a function of the genotype, define a critical age for blindness, and identify potential modifiers. Methods: Forty-five patients with IRD from 33 families with biallelicRPE65mutations, 28 stemming from a genetic isolate. We collected retrospective data from medical charts. Coexisting variants in 108 IRD-associated genes were identified with Molecular Inversion Probe analysis. Results: Most patients were diagnosed within the first years of life. Daytime visual function ranged from near-normal to blindness in the first four decades and met WHO criteria for blindness for visual acuity and visual field in the fifth decade. p.(Thr368His) was the most common variant (54%). Intrafamilial variability and interfamilial variability in disease severity and progression were observed. Molecular Inversion Probe analysis confirmed allRPE65variants and identified one additional variant inLRATand one inEYSin two separate patients. Conclusion: All patients withRPE65-associated IRDs developed symptoms within the first year of life. Visual function in childhood and adolescence varied but deteriorated inevitably toward blindness after age 40. In this study, genotype was not predictive of clinical course. The variance in severity of disease could not be explained by double hits in other IRD genes

LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS

PURPOSE: To study the disease course of RPE65-associated inherited retinal degenerations (IRDs) as a function of the genotype, define a critical age for blindness, and identify potential modifiers. METHODS: Forty-five patients with IRD from 33 families with biallelic RPE65 mutations, 28 stemming from a genetic isolate. We collected retrospective data from medical charts. Coexisting variants in 108 IRD-associated genes were identified with Molecular Inversion Probe analysis. RESULTS: Most patients were diagnosed within the first years of life. Daytime visual function ranged from near-normal to blindness in the first four decades and met WHO criteria for blindness for visual acuity and visual field in the fifth decade. p.(Thr368His) was the most common variant (54%). Intrafamilial variability and interfamilial variability in disease severity and progression were observed. Molecular Inversion Probe analysis confirmed all RPE65 variants and identified one additional variant in LRAT and one in EYS in two separate patients. CONCLUSION: All patients with RPE65-associated IRDs developed symptoms within the first year of life. Visual function in childhood and adolescence varied but deteriorated inevitably toward blindness after age 40. In this study, genotype was not predictive of clinical course. The variance in severity of disease could not be explained by double hits in other IRD genes

Axial eye length growth and final refractive outcome after unilateral paediatric cataract surgery

AIM: To compare the axial eye length growth of the two fellow eyes within one patient after unilateral paediatric cataract surgery and to asses changes in refraction and keratometry. Patients/ METHODS: A retrospective study in 90 eyes of 45 patients was performed. The 45 patients were divided into group 1 (patients younger than 18 months at the time of surgery, n=25) and group 2 (patients 18 months or older at the time of surgery, n=20). The axial eye length, spherical equivalent refraction and keratometry were measured during surgery and at follow up. All outcome data in the operated eyes were compared with the outcome data of the fellow non- operated eyes. The students t-test was used for statistical analysis. Values of p< 0.05 were considered statistically significant. RESULTS: In group 1 the absolute growth in mm of the operated eyes was borderline statistically significant less than the fellow non- operated eyes (p=0.049). No statistically significant difference in the rate of axial growth between the two eyes was found (p=0.25). A larger myopic shift (p=3.85E-5) and a larger change in keratometry (p=0.02) was found in the operated eyes. In group 2 no statistically significant differences were found between the two eyes. CONCLUSIONS: We did not find a statistically significant difference in axial length growth between the operated eyes and fellow non-operated eyes in our unilateral paediatric cataract patient

Comparison of optotypes of Amsterdam Picture Chart with those of Tumbling-E, LEA Symbols, ETDRS, and Landolt-C in non-amblyopic and amblyopic patients

Purpose: To compare optotypes of the Amsterdam Picture Chart (APK) with those of Landolt-C (LC), Tumbling-E (TE), ETDRS and LEA symbols (LEA), to assess their reliability in measuring visual acuity (VA)