Hereditary posterior microphthalmos with papillomacular fold and high hyperopia.
Five patients had a bilateral hereditary ocular syndrome composed of posterior microphthalmos with a papillomacular fold and high hyperopia. Anterior segment dimensions were near normal; the vitreous compartment was markedly fore-shortened. A papillomacular retinal fold extending from the center of the fovea toward the optic nerve head was present. Visual acuity ranged from 0.05 (20/400) to 0.6 (20/33); refractive errors ranged from + 11.25 to + 17.50 diopters. An autosomal recessive pattern of inheritance is postulated.
D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D006956:Hyperopia / Q000150:complications / Q000235:genetics / Q000473:pathology*; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D008850:Microphthalmos / Q000150:complications / Q000235:genetics / Q000473:pathology*; D009898:Optic Disk / Q000473:pathology; D012164:Retinal Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology*; D013577:Syndrome