Open AccessThe enhanced S-cone syndrome in children
Author(s) -
Arif O. Khan,
Mohammed A. Aldahmesh,
Brian F. Meyer
Publication year - 2009
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.10.2008.1163
Subject(s) - medicine , retinal , rare disease , disease , mutation , ophthalmology , pediatrics , pathology , genetics , biology , gene
The enhanced S-cone syndrome (ESCS), a rare retinal degenerative disease often associated with NR2E3 mutation, is due to increased numbers of S-cones at the expense of other photoreceptors or miswiring distal to the photoreceptors. Paediatric ESCS and its differing clinical features (as opposed to adult ESCS) is the subject of this report.