Sorsby i syndrome (hereditary macular coloboma syndrome) 1

General: Autosomal dominant; related to Laurence-M 727g64h oon-Bardet-Biedl and Biemond syndromes; apical dystrophy of the extremities and bilateral macular colobomata; both sexes affected; onset from birth (see Laurence-Moon-Bardet-Biedl Syndrome; Biemond Syndrome).

Ocular: Hypermetropia; nystagmus; bilateral macular colobomata with various degrees of pigmentation but sharply lined borders.

Clinical: Distal dystrophy of the hands and feet; rudimentary or absent index fingernails; absence of big toe; cleft palate.

Francois J. Heredity in Ophthalmology. St. Louis: CV Mosby, 1961:694.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Sorsby A. Congenital coloboma of the macula: together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet. Br J Ophthalmol 1935; 19:65.