Ectopia lentis et pupillae.
Two brothers had ectopia lentis et pupillae, an autosomal recessive disorder. Ascertainment of the brothers occurred through an unaffected sister, who sought genetic advice concerning possible risk for the disorder in her future children. Although the clinical features and the genetic aspects of ectopia lentis et pupillae are well documented in the older ophthalmologic literature, this entity has received relatively little attention recently in major reference texts.
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007908:Lens, Crystalline / Q000002:abnormalities*; D008297:Male; D009216:Myopia / Q000235:genetics; D009887:Ophthalmoscopy; D010375:Pedigree; D011680:Pupil / Q000002:abnormalities*