Optometry and Vision Sciences - Theses
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ItemDominantly inherited juvenile optic atrophy: an investigation of the clinical characteristics and acquired dyschromatopsia in three new pedigrees( 1969)The finding by the author of a 13 year old female with bilateral optic nerve atrophy, reduced vision and acquired tritan dyschromatopsia prompted an investigation into the identity of the affection. Similar findings in the father and siblings of the propositus, indicated the condition was familial. There were no apparent neurological complications. The inheritance of a primary optic atrophy suggested Leber's disease, but the dominant inheritance pattern with transmission by a male, and the clinical manifestations, were clearly distinct from that disease. The condition was identified as Dominantly Inherited Juvenile Optic Atrophy, but only after recourse to the basic literature. Standard text-books of ophthalmology and ophthalmological genetics proved unenlightening. For instance, Duke-Elder (1959) and Kestenbaum (1961) describe only Leber's disease under the heading of hereditary optic atrophies. Cogan (1966), Duke-Elder (194?) and Ballantyne and Michaelson (1962) give only 9, 8 and 5 lines, respectively, to what is essentially just an acknowledgement that optic atrophy with dominant inheritance has been reported. Walsh (195?) does not differentiate clinically between Leber's disease and other inherited optic atrophies with post-natal onset. The genetic texts of Waardenburg, Franceschetti and Klein (1963) and Francois (1961) do not agree on the classification of the hereditary optic atrophies. Waardenburg et., al. (1963) do not attempt to draw up a consistent clinical picture from the literature they discuss. Francois (1961) allows only 6 lines to the clinical manifestations of the dominant form of hereditary optic atrophy. That is, the text-books either omit the condition, or give it passing reference only. Nowhere is there a detailed clinical picture presented. Subsequent to the finding of the young girl by the author, two other propositi were found with the assistance of practising optometrists, and the investigation embraced all three unrelated families. The investigation followed two directions. The first aimed at defining and verifying the clinical picture of the disease, and the second at fully evaluating the disorder of colour vision which accompanies it. The report is accordingly in two major parts, with the findings integrated to form conclusions in a third.