Article
[Clinical findings in members of a Czech family with retinitis pigmentosa caused by the c.2426_2427delAG mutation in RPGR].
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti - 1 Mar 2013
Kousal B, Skalická P, Diblík P, Kuthan P, Langrová H, Lišková P
Abstract excerpt
PURPOSE: To describe the phenotype of members of the first Czech retinitis pigmentosa family with an identified molecular genetic cause (c.2426_2427delAG in RPGR), followed for more than 13 years. METHODS: Medical records were reviewed and a detailed ophthalmic examination including spectral-domain optical coherence tomography and full-field and multifocal electroretinography (ERG) was performed in two affected...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.