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.
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Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Fraser H. B., Wallace D. C. Sorsby's familial pseudo-inflammatory macular dystrophy. Am J Ophthalmol. 1971 Jun;71(6):1216–1220. doi: 10.1016/0002-9394(71)90965-2. [DOI] [PubMed] [Google Scholar]
- KALMUS H. The familial distribution of congenital tritanopia, with some remarks on some similar conditions. Ann Hum Genet. 1955 Aug;20(1):39–56. doi: 10.1111/j.1469-1809.1955.tb01277.x. [DOI] [PubMed] [Google Scholar]
- Kalmus H., Luke I., Seedburgh D. Impairment of colour vision in patients with ocular hypertension and glaucoma. With special reference to the "D and H color-rule". Br J Ophthalmol. 1974 Nov;58(11):922–926. doi: 10.1136/bjo.58.11.922. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kalmus H. Metameric 'Color Rule' matches of normal, colour deficient, cataractic, and aphakic observers. Ann Hum Genet. 1972 Jul;36(1):109–118. doi: 10.1111/j.1469-1809.1972.tb00586.x. [DOI] [PubMed] [Google Scholar]
- Kalmus H., Neuhann T., Seedburgh D. Diagnosis of tritanopic vision by means of the D and H color-rule. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1974;191(2):121–125. doi: 10.1007/BF00407825. [DOI] [PubMed] [Google Scholar]
- Roberts D. F., Rawling C. P. Secular trends in genetic structure: an isonymic analysis of Northumberland parish records. Ann Hum Biol. 1974 Oct;1(4):393–410. doi: 10.1080/03014467400000431. [DOI] [PubMed] [Google Scholar]
- SORSBY A., MASON M. E. J. A fundus dystrophy with unusual features. Br J Ophthalmol. 1949 Feb;33(2):67–97. doi: 10.1136/bjo.33.2.67. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sorsby A. THE DYSTROPHIES OF THE MACULA. Br J Ophthalmol. 1940 Oct;24(10):469–484.25. doi: 10.1136/bjo.24.10.469. [DOI] [PMC free article] [PubMed] [Google Scholar]