Falciform fold, retinal detachment, and Norrie's disease.
A patient with X-chromosome-linked recessive Norrie's disease, characterized by retinal falciform fold, retinal detachment, repeated vitreous hemorrhage, and retrolental membrane formation, was observed from age 6 weeks. The patient showed the clinical progression from these early retinal and vitreous changes to the more typical retrolental vascularized detached retina. Pathologic examination showed normal retinal tissue. Two other male relatives showed the end stages of Norrie's disease with bilateral congenital blindness, with and without mental retardation and deafness. Vitreoretinal surgery prevented phthisis bulbi from occurring the operated eye but was unsuccessful in reattaching the contracted retina.
D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000150:complications / Q000151:congenital / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000150:complications; D005128:Eye Diseases / Q000150:complications; D005808:Genes, Recessive; D006470:Hemorrhage / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D010375:Pedigree; D012160:Retina / Q000002:abnormalities*; D012163:Retinal Detachment / Q000150:complications*; D012730:Sex Chromosomes; D013577:Syndrome; D014822:Vitreous Body