CRB1 – Pigmented Paravenous Retinochoroidal Atrophy

Pigmented paravenous retinochoroidal atrophy (PPCRA) is a distinctive form of retinal degeneration marked by paravenous pigmentation and progressive chorioretinal atrophy. In a single pedigree of seven examined individuals, a novel heterozygous c.484G>A (p.Val162Met) variant in CRB1 co-segregated with PPCRA in an autosomal dominant pattern with variable expressivity and a male-predominant severity (PMID:15623792). In silico homology modeling of the fourth EGF-like domain predicts disruption of a stabilizing hydrogen bond at codon 162, supporting a deleterious structural effect on CRB1 function. No additional unrelated cases have been reported to date, limiting the strength of the evidence to a single kindred. Functional data are restricted to computational modeling without in vitro or in vivo confirmation.

References

• Investigative ophthalmology & visual science • 2005 • Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. PMID:15623792

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