Ontology highlight
ABSTRACT:
SUBMITTER: Bocquet B
PROVIDER: S-EPMC3857159 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Bocquet Béatrice B Marzouka Nour Al Dain NA Hebrard Maxime M Manes Gaël G Sénéchal Audrey A Meunier Isabelle I Hamel Christian P CP
Molecular vision 20131208
<h4>Purpose</h4>Autosomal recessive retinitis pigmentosa (arRP) is a genetically heterogeneous disease resulting in progressive loss of photoreceptors that leads to blindness. To date, 36 genes are known to cause arRP, rendering the molecular diagnosis a challenge. The aim of this study was to use homozygosity mapping to identify the causative mutation in a series of inbred families with arRP.<h4>Methods</h4>arRP patients underwent standard ophthalmic examination, Goldman perimetry, fundus exami ...[more]