Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma

Abstract

Anophthalmia is a rare ocular malformation. It is a genetically determined disorder and is typically associated with syndromes. However, sporadic nonsyndromic familial as well as non-familial cases of anophthalmia have also been reported. Non-syndromic familial cases are usually bilateral and have been attributed to autosomal recessive, autosomal dominant, and X-linked inheritance patterns. The authors hereby report a rare case of autosomal recessive unilateral anophthalmia in a patient with no other associated congenital anomaly. Patient was operated for craniopharyngioma. The clinical, radiological and intraoperative findings are discussed.

• Anophthalmia
• autosomal recessive
• inherited
• unilateral

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.