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C.C. Klaver, S. Pachydaki, L.A. Yannuzzi, S.J. Huang, P. Gouras, R. Allikmets, I.A. Barbazetto; Phenotype-Genotype Correlation in Patients With the Goldmann-Favre Syndrome . Invest. Ophthalmol. Vis. Sci. 2003;44(13):4938.
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Purpose: Goldmann-Favre, or enhanced S-cone, syndrome is an autosomal recessive vitreoretinal degeneration caused by mutations in the NR2E3 gene. Recognition of this disorder is complicated due to clinical variation and its resemblance to other retinal degenerations. In this study, we describe 5 patients who had a differential diagnosis of Goldmann-Favre syndrome. Methods: Two siblings, their cousin, and 2 unrelated subjects with retinal pigment lesions were screened for mutations in the NR2E3 gene. The clinical course, fundus features, fluorescein angiography findings, and electrophysiologic findings were compared.. Results: We identified two different mutations in NR2E3, the frequent R311Q allele and a novel Q350R mutation. Three subjects were homozygous for R311Q and one was a compound heterozygote. One of the affected siblings did not have a mutation in the NR2E3 gene. The patients who were homozygous for R311Q presented with a concentric ring of black pigment clumping in the midperiphery, cystoid macular edema, and posterior subcapsular cataract. ERG’s were non recordable in both scotoptic and photopic conditions. The initial presentation of the patient with the Q350R mutation was bilateral macular schisis; later he developed scattered, linear pigment deposits and atrophic RPE changes in the macula. His spectral ERG demonstrated a greater S to L/M sensitivity. The patient with no mutation in the NR2E3 gene, suggesting an alternative etiology, presented with bilateral atrophic maculopathy, early onset, posterior subcapsular cataracts, a history of night-blindness since early childhood, and mental retardation. Conclusions: Our data suggest that there may be a genotype-phenotype correlation in Goldmann-Favre syndrome. Molecular diagnostic testing can be useful to establish the final diagnosis of this disease.
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