The detection of carriers and the problem of heterogeneity in genetic counseling.
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Biomedical subjects
Publications and source records attributed to I H Porter.
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Hereditary simple ectopia lentis affected nine patients in three generations of a family. Inheritance appeared to be autosomal dominant. Examination of 12 family members, employing body proportion measurements, chest x-ray, echocardiogram, and urinary cystine or blood methionine levels, revealed no evidence of any systemic disease. In all cases except two, lenses were bilaterally and superiorly dislocated. The degree of dislocation varied considerably among those affected, causing no visual disturbance in some and severely limiting visual acuity in others. Visual deficits were greatest in patients with intermediate degrees of dislocation. To date, the only known complications related to the dislocations have been two cases of bilateral cataracts. The indications for lensectomy in patients with ectopia lentis are reviewed.
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