Retinal dystrophy with or without extraocular anomalies

Definition:

Retinal dystrophy with or without extraocular anomalies (RDEOA) is an autosomal recessive retinal dystrophy caused by mutations in RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. RCBTB1 was shown to be involved in ubiquitination, more specifically as a CUL3 substrate adaptor.

References:

[1]. Frauke Coppieters, et al. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. 2016 Aug 4;99(2):470-80. [Content Brief]

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