Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGR^ORF15-Associated Retinal Disorder.

ABSTRACT: X-linked retinitis pigmentosa (XLRP), a rare form of retinitis pigmentosa (RP), is predominantly caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Affected males often present with severe phenotypes and early disease onset. In contrast, female carriers are usually asymptomatic or show stationary phenotypes. Herein, we reported an 8-year-old female carrier, a daughter of a confirmed RP father with RPGR mutation, with an early onset of progressive cone-rod pattern retinal dystrophy. Additionally, the carrier experienced visual snow-like symptom as long as she recalled. Ophthalmological examination showed the reduction of visual acuity and attenuation of photoreceptor functions since the age of 5 years. Further analysis revealed a heterozygous pathoge

SUBMITTER: Tuekprakhon A 

PROVIDER: S-EPMC8517444 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature