Prominent Optic Disc Featured in Inherited Retinopathy.
BackgroundWe investigated the relationship between prominent optic disc (POD) and inherited retinal dystrophy (IRD).Patients and MethodsA cross-sectional consecutive study was performed in 10 children and 11 adults of 7 non-related families. We performed clinical phenotyping, including a detailed examination, fundus autofluorescence, and colour fundus and OCT imaging. Genetic testing was subsequently performed for all family members presenting retinal pathology.ResultsIn 4 members of a 3-generation family, hyperfluorescent deposits on the surface of POD were related to a p.(L224M) heterozygous mutation inBEST1. In the second family, one member presented deposits located on the surface on hyperaemic OD and a compound p.(R141H);(A195V) mutation inBEST1. In the third family, POD was observed in father and child with early onset cone-rod dystrophy and a novel autosomal recessive p.(W31*) homozygous mutation inABCA4. In the fourth family, POD with "mulberry-like" deposits and attenuated vessels were observed in a 7-year old girl, with a mutation inUSH1A, and with early onset rod-cone dystrophy, associated with hearing loss. In the fifth family, blurry OD with tortuous vessels was observed in 4 consanguineous female carriers and a hemizygous boy with a p.(R200H) mutation in the X-linked retinoschisisRS1. In the sixth family, a mother and her son were both affected with POD and attenuated peripapillary vessels, and presented with a p.(Y836C) heterozygous mutation inTOPORS, thus confirming autosomal dominant RP. In the seventh family, in 3 family members with POD, compound p.(L541P;A1038 V);(G1961E) mutations inABCA4confirmed the diagnosis of Stargardt disease.ConclusionsA variety of OD findings are found in a genetically heterogeneous group of IRDs. In the presence of POD, an inherited progressive photoreceptor disease should be ruled out.
Department of Ophthalmology, University of Basel, Switzerland (Chairman: Prof. Hendrik Scholl).
M G
MG
Todorova
University of Montreal - 495 Prince Arthur West, Montreal, Canada.
R I
RI
Bojinova
Department of Ophthalmology, Cantonal Hospital, St. Gallen, Switzerland.
C
C
Valmaggia
IRO - Institute for Research in Ophthalmology, Sion, Switzerland.
D F
DF
Schorderet
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D008297:Male; D009901:Optic Nerve Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D055815:Young Adult
D005819:Genetic Markers