Dominant inherited tilted disc syndrome and lacquer cracks.
Three patients with the tilted disc syndrome from one family were examined. The presence of the trait in three consecutive generations suggests an autosomal dominant mode of inheritance, although in these patients with variable expression. The propositus showed bilateral inferonasal retinal ectasia, with atrophic subretinal scars. Linear-like lacquer cracks, radiating from the central scars, were also present running parallel to the margin of the optic nerve head. The linear streaks were very similar to those usually seen in traumatic tears of Bruch's membrane. The mechanical stretching of the ectatic area, and its abnormal location inferonasal to the optic disc might have been responsible for the unusual pattern of the lacquer cracks in our patient.
Bottoni
F G
FG
Institute of Ophthalmology, University of Nijmegen, The Netherlands.
Eggink
C A
CA
Cruysberg
J R
JR
Verbeek
A M
AM
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001251:Astigmatism / Q000235:genetics; D002829:Choroid / Q000473:pathology*; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009216:Myopia / Q000235:genetics; D009898:Optic Disk / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome