| Literature DB >> 1085369 |
Abstract
A genealogical link was established six generations back between a family living in England and Australia, and one of the families reported originally by Sorsby et al (1949) as suffering from autosomal dominant inflammatory macular dystrophy (fundus dystrophy). The onset--in the fifth decade of life--and the progress of the condition, which usually ends in blindness, has been observed in a number of patients and the prodromal development of a colour vision deficiency in some of them confirmed. This defect is fundamentally different from the X-linked colour vision defects and merits further investigation.Entities:
Mesh:
Year: 1976 PMID: 1085369 PMCID: PMC1013414 DOI: 10.1136/jmg.13.4.271
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318