Familial exudative vitreoretinopathy.
At age 26 years a woman who had been blind in the left eye from birth had visual acuity of R.E.: 6/18 (20/60); L.E.: 6/120 (20/400), with 40 prism diopters of left exotropia. The left eye showed a decreased anteroposterior diameter of the globe and a complete retinal detachment behind a cataractous lens. The right eye had a posterior subcapsular lens opacity severe vitreous fibrosis, dragging of the optic disk, and intraretinal and subretinal exudation with a fibrovascular mass in the temporal retina. The patient's 3-year-old daughter had 45 to 50 prism diopters of exotropia, a pendular nystagmus with intraretinal and subretinal dragging of each disk, and early degeneration and band formation in the periphery of each fundus.
D000328:Adult; D000367:Age Factors; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014822:Vitreous Body