Bilateral macular coloboma associated with progressive atrophy of the peripheral retina.
An 11-year-old girl with poor visual acuity since birth was found to have nearly complete defects of the retinochoroidal tissue in the central areas of both fundi and almost normal peripheral retinas. Her parents were first cousins. At age 24, the patient reported night blindness. An examination showed geographic atrophy of the peripheral retina and stationary macular lesions in both eyes. Her condition appeared to be a rare case of bilateral macular coloboma associated with progressive peripheral retinal atrophy.
Funada
M
M
Department of Ophthalmology, Tottori University School of Medicine, Yonago; Japan.
Okamoto
I
I
Hayasaka
S
S
D001284:Atrophy / Q000150:complications / Q000151:congenital; D002648:Child; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000150:complications*; D003241:Consanguinity; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D010375:Pedigree; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D012164:Retinal Diseases / Q000150:complications* / Q000151:congenital / Q000473:pathology