Article
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
Molecular vision - 15 Apr 2011
Preising Markus N, Forster Hedwig, Gonser Miriam, Lorenz Birgit
Abstract excerpt
BACKGROUND: A broad spectrum of pigmentation of the skin and hair is found among patients diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA). Even though complexion is variable, three ocular features, i.e., hypopigmentation of the fundus, hypoplasia of the macula, and nystagmus, are classical pathological findings in these patients. We screened 172 index patients with a clinical diagnosis of OA...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.