Title: Achromatopsia and Combination Defects of Protan, Deutan and Tritan Genes
Abstract: Most patients with achromatopsia have a very much reduced visual acuity, combined with nystagmus and photophobia. The usually reported achromatopsias are inherited as autosomal recessive disorders: McKusick quotes them in this catalogue as ‘total color blindness’ (1983, No. 21690), and mentions also the British expression of ‘day blindness’; cones are probably missing Pingelapese blindness (McKusick, 1983, No. 26230) may be the same disorder. Pokorny et al. (1979) subdivided these recessive forms in a complete and in an incomplete form.
Publication Year: 1984
Publication Date: 1984-01-01
Language: en
Type: book-chapter
Indexed In: ['crossref']
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Cited By Count: 1
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