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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in leber congenital amaurosis
Klinische Monatsblatter fur Augenheilkunde, Volume 231, No. 4, Year 2014
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Description
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.
Authors & Co-Authors
Jakobsson, Cecilia
Switzerland, Sion
Iro-institute for Research in Ophthalmology
Switzerland, Lausanne
Université de Lausanne Unil
Switzerland, Lausanne
Jules Gonin Eye Hospital
Switzerland, Lausanne
Fondation Asile Des Aveugles
Othman, Ihab Saad
Egypt, Cairo
Faculty of Medicine
Egypt, Giza
Eye World Hospital
Munier, Francis L.
Switzerland, Sion
Iro-institute for Research in Ophthalmology
Switzerland, Lausanne
Université de Lausanne Unil
Switzerland, Lausanne
Jules Gonin Eye Hospital
Switzerland, Lausanne
Fondation Asile Des Aveugles
Schorderet, Daniel F F.
Switzerland, Sion
Iro-institute for Research in Ophthalmology
Switzerland, Lausanne
Université de Lausanne Unil
Switzerland, Lausanne
Jules Gonin Eye Hospital
Switzerland, Lausanne
Fondation Asile Des Aveugles
Abouzeid, Hana
Switzerland, Sion
Iro-institute for Research in Ophthalmology
Switzerland, Lausanne
Université de Lausanne Unil
Switzerland, Lausanne
Jules Gonin Eye Hospital
Switzerland, Lausanne
Fondation Asile Des Aveugles
Statistics
Citations: 11
Authors: 5
Affiliations: 6
Identifiers
Doi:
10.1055/s-0034-1368221
ISSN:
00232165
e-ISSN:
14393999
Research Areas
Cancer
Disability
Health System And Policy
Maternal And Child Health