| Literature DB >> 8790105 |
E W Chynn1, D S Walton, L B Hahn, T P Dryja.
Abstract
Norrie disease is a rare, X-linked recessive disorder characterized by congenital blindness due to malformed retinas. We describe a simplex patient who had leukokoria and whose clinical diagnosis was confirmed only after molecular genetics analysis. DNA analysis was also used to determine the carrier status of relatives of the proband.Entities:
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Year: 1996 PMID： 8790105 DOI： 10.1001/archopht.1996.01100140338018
Source DB: PubMed Journal: Arch Ophthalmol ISSN： 0003-9950