Purchase this article with an account.
Anne KUONEN, Hoai V. TRAN, Veronika VACLAVIK, Daniel F. SCHORDERET, Francis L. MUNIER; Para-arterial Sparing Phenotype In Leber Congenital Amaurosis Associated With Homozygous p.R108X SPATA-7 Mutation. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4590.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To describe the genotype/phenotype correlation associated with homozygous p.R108X mutation in the SPATA7 gene.
A consanguineous nuclear family of Ethiopian origin was ascertained for genotypic and phenotypic characterization, including fundus photography, fundus autofluorescence (FAF), and full-field ERG. Molecular diagnosis was performed using a microarray.
Two of the 5 family members were affected with LCA. A homozygous c.322C>T (p.R108X) mutation in exon 5 of SPATA-7 was identified in both of them. The patients were 4 and 11 years old, respectively. Fundus examination revealed an unremarkable macular area, but optic nerve pallor, attenuated vascular calibre and deep retinal nummular deposits with para-arterial sparing predominant in the midperiphery. FAF showed multiples areas of hyperautofluorescence, corresponding to the deep retinal deposits. ERG was not recordable in the young patient, and showed severe rods/cones dysfunction in the older one.
The literature describing genotype/phenotype correlation of SPATA-7 mutations in Leber congenital amaurosis (LCA) is still limited. We report the occurrence of para-arterial sparing in two sibs with SPATA7-linked LCA which may represent a clinical marker of this condition.
This PDF is available to Subscribers Only