| Literature DB >> 20532522 |
P Horn1, J Harder, C P Lohmann, I Lanzl.
Abstract
We present the case of an 11-year-old girl with continuously progressive loss of vision. Fundoscopy revealed a picture consistent with Stargardt's disease and fundus flavimaculatus. This article provides a short overview of differential diagnoses worth considering in children and adolescents who present with a similar picture. After our initial workup, genetic chip analysis of the ABCA4 gene was performed, which yielded a heterozygous mutation. Because a second mutation could likely have been on a part of the gene not screened by chip analysis, and in light of the striking picture, a clinical diagnosis of Stargardt's disease was made.Entities:
Mesh:
Year: 2010 PMID: 20532522 DOI: 10.1007/s00347-010-2168-x
Source DB: PubMed Journal: Ophthalmologe ISSN: 0941-293X Impact factor: 1.059