Article
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature.
Ophthalmic genetics - 1 Jun 2023
Tran Matthew, Kolesnikova Masha, Kim Angela H, Kowal Tia, Ning Ke, Mahajan Vinit B, Tsang Stephen H, Sun Yang
Abstract excerpt
BACKGROUND: RPGR mutations are the most common cause of X-linked retinitis pigmentosa (XLRP). High myopia has been described as a very frequent feature among affected female carriers of XLRP. However, the clinical phenotype of female patients presenting with X-linked RPGR-related high myopia has not been well described. MATERIALS AND METHODS: Retrospective case series of four female patients with RPGR mutations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.