Frequency of photographically apparent optic disc and parapapillary nerve fiber layer drusen in Usher syndrome.
OBJECTIVE
Using a retrospective case series, the authors determine the frequency and clinical features of optic disc and parapapillary nerve fiber layer drusen in type I and type II Usher syndrome (congenital deafness and retinitis pigmentosa).


METHODS
Color fundus photographs available on 43 patients with type I and 108 patients with type II Usher syndrome were analyzed for the presence of optic disc or parapapillary nerve fiber layer drusen.


RESULTS
Optic disc and/or parapapillary nerve fiber layer drusen were observed in 15 (35%) of 43 patients with type I Usher syndrome and 9 (8%) of 108 patients with type II Usher syndrome for whom color photographs were available. Bilateral drusen were observed in 11 patients (73%) with type I and 3 patients (33%) with type II Usher syndrome. In 3 (20%) of the 15 patients with type I and in 5 (56%) of the 9 patients with type II, only an isolated druse was seen. Six of the 15 patients with type I Usher syndrome showed parapapillary nerve fiber layer drusen, whereas the drusen were within the optic disc in all 9 patients with type II.


CONCLUSIONS
Drusen of the optic disc and parapapillary nerve fiber layer tended to occur more frequently in type I than type II Usher patients and also were more often bilateral and multiple, with a tendency to occur in the parapapillary region and within the optic disc.
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago 60612, USA.
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Edwards
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Grover
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Fishman
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000150:complications* / Q000151:congenital; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D009412:Nerve Fibers / Q000473:pathology*; D015594:Optic Disk Drusen / Q000150:complications* / Q000175:diagnosis; D009901:Optic Nerve Diseases / Q000150:complications* / Q000175:diagnosis; D010781:Photography / Q000379:methods*; D015995:Prevalence; D012174:Retinitis Pigmentosa / Q000150:complications*; D012189:Retrospective Studies; D013577:Syndrome