[A familial case of drusen of the optic disk].
The present abstract is about a case of drusen of the optic disc (DOD), consisting of three members, belonging to two generations: the mother (41 years) and two daughters (16 and 19 years). Their personal records showed nothing special, except case III-2 with crisis equivalent to the epileptic ones. No changes of the visual acuity and of the visual field were found. Ophthalmoscopy and angiofluorography showed: a bilateral and superficial location of the DOD; no vascular anomalies (discal and peridiscal) or other retinal changes; a trend towards flattening and getting more mat of the DOD, in older cases. It is debated upon the possibility that a single gene might be involved, responsible for an autosomal dominant or autosomal recessive transmission mode.
Zolog
I
I
Clinica de Oftalmologie, Timişoara.
Munteanu
M
M
D000293:Adolescent; D000328:Adult; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D009887:Ophthalmoscopy; D015594:Optic Disk Drusen / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree