Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.
Two sib pairs and a fifth child are described with autosomal recessive ectopia lentis et pupillae. Patients with this disorder need regular ophthalmic review, but do not have the skeletal and metabolic complications associated with other syndromes with ectopia lentis.
Colley
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A
Department of Medical Genetics, St Mary's Hospital, Manchester.
Lloyd
I C
IC
Ridgway
A
A
Donnai
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D
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004479:Ectopia Lentis / Q000175:diagnosis / Q000235:genetics*; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D008297:Male