Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family.

AUTOR(ES)

Kalmus, H

RESUMO

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.

Documentos Relacionados

• Sorsby's pseudoinflammatory macular dystrophy.
• Hereditary coproporphyria: incidence in a large English family.
• Atypical vitelliform macular dystrophy in a 5-generation family.
• FAMILIAL HYALINE DYSTROPHY IN THE FUNDUS OCULI OR DOYNE'S FAMILY HONEYCOMB “CHOROIDITIS”
• Hereditary chondrocalcinosis in an Ashkenazi Jewish family.