LENZ-SYNDROME IN 2 SISTERS - CLINICOPATHOLOGICAL CORRELATIONS OF THE OCULAR ANOMALIES

Background: The Lens syndrome (Mendelian Inheritance in Man catalog nu mber 309800) is a presumed X-linked recessive disorder, Major diagnost ic criteria include ocular, skeletal, and urogenital manifestations, W e describe two sisters and the two sons of one of them with Lent syndr ome, The eye from one boy was removed because of pain and total loss o f vision, allowing histopathologic documentation of the ocular malform ations, Methods: Clinicopathologic case report, Results: Two sisters i n this family displayed several of the major diagnostic criteria of th e Lens syndrome, The stunted growth of the eye, and the ocular and non -ocular anomalies defines the microphthalmos as monogenic, complex, an d colobomatous, Conclusion: The pattern of inheritance of Lens syndrom e is best explained by X-linked dominant transmission, Future reports of familial cases with an excess of affected females are needed to con firm this hypothesis.