PMID: 11910559Mar 23, 2002Paper

Visual improvement in Leber congenital amaurosis and the CRX genotype

Ophthalmic Genetics
Robert K KoenekoopRaquel Beneish

Abstract

In order to determine genotype-phenotype correlations in Leber congenital amaurosis (LCA), we analyzed the phenotype and genotype of 250 LCA children. We identified a heterozygous CRX mutation in an affected mother and son, and describe the ocular phenotype of the proband from birth through infancy to age 11 years. Best-corrected Snellen visual acuities, electroretinograms (ERGs), and Goldmann visual fields were measured, while SSCP and direct sequencing were done for genotyping. The proband had congenital nystagmus, amaurotic, paradoxical pupils, and arteriolar narrowing, without a pigmentary retinopathy. The child had very poor fixation and wandering nystagmus at age 5 months, but had measurable vision at age 6 years. Snellen visual acuities were 20/900 at that time, and slowly improved to 20/150 by age 11 years. Perimetry revealed 60 degrees fields with the V4e target at ages 9 and 10 years, with a new 20 degrees inferior island to the III4e target. ERGs at 5 and 8 months were non-detectable, while the photopic ERGs at age 10 years and again at 11 years showed measurable cone a- and b-waves. At age 47, the phenotype of the affected mother consisted of hand motion vision, a pigmentary retinopathy, and non-detectable visual fi...Continue Reading

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Citations

Jun 4, 2014·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Nicholas M Tran, Shiming Chen
Feb 12, 2014·PLoS Genetics·Nicholas M TranShiming Chen
Jul 27, 2007·Clinical & Experimental Ophthalmology·Robert K KoenekoopFrans P M Cremers
Oct 6, 2005·Retina·Jennifer A GalvinRobert K Koenekoop
Jul 18, 2008·Progress in Retinal and Eye Research·Anneke I den HollanderFrans P M Cremers

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