1. Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
- Author
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Jakobsson C, Othman IS, Munier FL, Schorderet DF, and Abouzeid H
- Subjects
- Child, Child, Preschool, Female, Humans, Male, Mutation genetics, Pedigree, Polymorphism, Single Nucleotide genetics, Yemen, Genetic Predisposition to Disease genetics, Leber Congenital Amaurosis diagnosis, Leber Congenital Amaurosis genetics, Retinitis Pigmentosa diagnosis, Retinitis Pigmentosa genetics, cis-trans-Isomerases genetics
- Abstract
Background: The aim of this study was to describe an unexpected phenotype in a family with Leber congenital amaurosis (LCA) due to a retinal pigment epithelium-specific protein 65 kDa (RPE65) homozygous mutation., History and Signs: We analyzed a family from Yemen in which 3 individuals were affected with LCA. Linkage analysis using markers flanking the known LCA genes was done, followed by direct sequencing of RPE65., Therapy and Outcome: Severe visual impairment and night blindness were observed during infancy. We observed photophobia only in the 8-year-old patient. The youngest affected had bilateral hyperopia of +3.50 and visual acuity of 1/60. The oldest two had visual acuity limited to hand movements in the right eye (OD) and counting fingers in the left eye (OS) for the oldest and of 5/60 OD, 6/60 OS for the other. They showed disc pallor, attenuated vessels, white flecks in the retina mid-periphery and bull's eye maculopathy. ERGs of the oldest child were completely unresponsive. Genomic sequencing identified a novel homozygous missense mutation, IVS2-3C>G, in the second RPE65 intron., Conclusions: We identified a novel LCA-related homozygous RPE65 mutation associated with a severe clinical presentation including an early and severe cone dysfunction. This is in contrast with the presentation associated with other RPE65 mutations predominantly causing rod-cone dystrophy with residual visual function., (Georg Thieme Verlag KG Stuttgart · New York.)
- Published
- 2014
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