Flecked retina associated with ring 17 chromosome.
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.
Charles
S J
SJ
Department of Ophthalmology, Addenbrooke's Hospital, Cambridge.
Moore
A T
AT
Davison
B C
BC
Dyson
H M
HM
Willatt
L
L
D000328:Adult; D002886:Chromosomes, Human, Pair 17; D005451:Fluorescein Angiography; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008548:Melanosis / Q000235:genetics; D012160:Retina / Q000473:pathology; D015593:Retinal Drusen / Q000235:genetics* / Q000473:pathology; D012303:Ring Chromosomes