Flecked retina associated with ring 17 chromosome.

Autor: Charles SJ; Department of Ophthalmology, Addenbrooke's Hospital, Cambridge., Moore AT, Davison BC, Dyson HM, Willatt L
Jazyk: angličtina
Zdroj: The British journal of ophthalmology [Br J Ophthalmol] 1991 Feb; Vol. 75 (2), pp. 125-7.
DOI: 10.1136/bjo.75.2.125
Abstrakt: We report the case of a mentally retarded male with a ring 17 chromosome who had subretinal drusen-like deposits in each eye. This is the second report of flecked retina in a patient with ring 17 chromosome, suggesting that there may be a causal relationship between abnormalities of chromosome 17 and retinal pigment epithelial or photoreceptor dysfunction.
Databáze: MEDLINE