Английская Википедия:Aplasia cutis-myopia syndrome
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Шаблон:Infobox medical condition
Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by a combination of aplasia cutis congenita, high myopia, and dysfunction of the cone-rods.[1] Other findings include congenital nystagmus, atrophy of the iris and pigment epithelium, easily scarred skin and keratoconus.[2] Only 4 cases (from the United Kingdom[3] and Israel,[4] respectively) have been described in medical literature. Transmission is either autosomal dominant or autosomal recessive.[5]
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