BACKGROUND: The Lenz syndrome (Mendelian inheritance in Man catalog number 309,800) is a presumed X-linked recessive disorder. Major diagnostic criteria include ocular, skeletal, and urogenital manifestations. We describe two sisters and the two sons of one of them with Lenz syndrome. The eye from one boy was removed because of pain and total loss of vision, allowing histopathologic documentation of the ocular malformations. METHODS: Clinicopathologic case report. RESULTS: Two sisters in this family displayed several of the major diagnostic criteria of the Lenz syndrome. The stunted growth of the eye, and the ocular and non-ocular anomalies defines the microphthalmos as monogenic, complex, and colobomatous. CONCLUSION: The pattern of inheritance of Lenz syndrome is best explained by X-linked dominant transmission. Future reports of familial cases with an excess of affected females are needed to confirm this hypothesis.
BACKGROUND: The Lenz syndrome (Mendelian inheritance in Man catalog number 309,800) is a presumed X-linked recessive disorder. Major diagnostic criteria include ocular, skeletal, and urogenital manifestations. We describe two sisters and the two sons of one of them with Lenz syndrome. The eye from one boy was removed because of pain and total loss of vision, allowing histopathologic documentation of the ocular malformations. METHODS: Clinicopathologic case report. RESULTS: Two sisters in this family displayed several of the major diagnostic criteria of the Lenz syndrome. The stunted growth of the eye, and the ocular and non-ocular anomalies defines the microphthalmos as monogenic, complex, and colobomatous. CONCLUSION: The pattern of inheritance of Lenz syndrome is best explained by X-linked dominant transmission. Future reports of familial cases with an excess of affected females are needed to confirm this hypothesis.