Ontology highlight
ABSTRACT:
SUBMITTER: Murro V
PROVIDER: S-EPMC5324242 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Murro Vittoria V Caputo Roberto R Bacci Giacomo Maria GM Sodi Andrea A Mucciolo Dario Pasquale DP Bargiacchi Sara S Giglio Sabrina Rita SR Virgili Gianni G Rizzo Stanislao S
BMC ophthalmology 20170224 1
<h4>Background</h4>X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000. Clinical diagnosis of XLRS can be challenging due to the highly variable phenotypic presentation and limited correlation has been identified between mutation type and disease severity or progression.<h4>Case presentation</h4>We report the atypical early onset of XLRS in 3-month-old monozygotic twins. Fundus examination was ch ...[more]