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CONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA: Expansion of the Clinical Spectrum, Mutation, and Its Association With PRDM13.

Retina (Philadelphia, Pa.) - 1 Dec 2022

Small Kent W, Tawfik Caroline A, Udar Nitin, Udar Uma, Avetisjan Jessica, El-Aidy Lamia A, Shaya Fadi S

Abstract excerpt

PURPOSE: To describe a new ocular phenotype in a single Egyptian family associated with a heterozygous noncoding mutation in the North Carolina macular dystrophy (NCMD/MCDR1) locus, likely affecting the PRDM13 gene. METHODS: A retrospective, clinical chart review of 11 members of a four-generation family. Comprehensive ophthalmic examinations included visual acuity, refraction, fundus imaging, spectral-domain...

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PMID: 36007168
DOI: 10.1097/IAE.0000000000003611

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