학술논문
NOVEL MFRPMUTATION WITH NANOPHTHALMOS, OPTIC DISK DRUSEN, AND PERIPHERAL RETINOSCHISIS IMAGED WITH ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY
Document Type
Article
Source
Retinal Cases & Brief Reports; May 2023, Vol. 17 Issue: 3 p269-272, 4p
Subject
Language
ISSN
19351089; 19371578
Abstract
An asymptomatic patient presented with bilateral nanophthalmos, optic disk drusen, and foveal hypoplasia without foveoschisis, cataract, and occludable angles. Salivary genetic testing revealed homozygosity of a novel mutation of the MFRPgene consistent with a clinically distinct phenotype of autosomal recessive nanophthalmos. Ultra-widefield optical coherence tomography demonstrated extensive multilevel peripheral retinoschisis.