Norrie's disease in an Asian family.
Open Access
- 1 January 1988
- journal article
- research article
- Published by BMJ in British Journal of Ophthalmology
- Vol. 72 (1) , 62-64
- https://doi.org/10.1136/bjo.72.1.62
Abstract
Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family with typical features of Norrie's disease.Keywords
This publication has 7 references indexed in Scilit:
- Norrie's Disease — An X-Linked Syndrome of Retinal Malformation, Mental Retardation and DeafnessNew England Journal of Medicine, 1971
- Norrie's DiseaseAmerican Journal of Ophthalmology, 1968
- Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration.1966
- Norrie's DiseaseArchives of Ophthalmology (1950), 1961
- EPISKOPI BLINDNESS: HEREDITARY BLINDNESS IN A GREEK CYPRIOT FAMILYBritish Journal of Ophthalmology, 1959
- Congenital blindness (pseudoglioma) occurring as a sex-linked developmental anomaly.1949
- CAUSES OF BLINDNESS IN CHILDRENActa Ophthalmologica, 1927