DIAGNOSTIC CRITERIA IN DOMINANTLY INHERITED JUVENILE OPTIC ATROPHY A REPORT OF THREE NEW FAMILIES

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Abstract
A qualitative analysis of the literature on heredo-familial optic atrophies was necessitated by the indefinite status of the dominant juvenile form within their nosology. A quantitative analysis of those papers considered to report the dominant juvenile form revealed eight major clinical manifestations: (1) Dominant autosomal inheritance. (2) Insidious onset between the ages of 4-8 years. (3) Moderately reduced visual acuity, 6/20-6/60. (4) Temporal pallor of the optic discs. (5) Centro-caecal enlargement of the blind spot. (6) Full peripheral fields to white. (7) Inverted peripheral fields to colors. (8) An acquired blue-yellow dyschromatopsia. They are proposed as a clinical definition of the disease and as suitable diagnostic criteria. Fourteen affected persons from three unrelated families were diagnosed by the criteria. The site or mechanism of the disease is not known.

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