title: Primary vitreoretinal dysplasia transmitted as an autosomal recessive disorder.
abstract: A sibship of a brother and sister with congenital bilateral pseudoglioma is described. The most prominent abnormality was a greyish-white vascularised mass in the retrolental spaces, which was noted as early as the first weeks of life. Corneal opacities, posterior synechiae, and complicated cataracts developed within 1 to 2 years age. The sibship showed normal chromosomes and had no systemic disorders, including mental and hearing impairment. The parents and other relatives were normal. Autosomal recessive disease, rather than Norrie's disease, was the most probable explanation for the dysplasia of the vitreous and retina in the sibship. This is probably the third report of familial occurrence with autosomal recessively inherited vitreoretinal dysplasia without systemic anomalies. The importance of the disease in genetic counselling is discussed.
mesh_terms: D001766:Blindness / Q000151:congenital / Q000235:genetics; D003937:Diagnosis, Differential; D005134:Eye Neoplasms / Q000151:congenital / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D012160:Retina / Q000002:abnormalities*; D012175:Retinoblastoma / Q000151:congenital / Q000235:genetics; D014822:Vitreous Body / Q000002:abnormalities*