title: 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.
authors.affiliation: Departments of Neurosurgery.
authors.forename: Amandeep
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Departments of Neurosurgery.
authors.forename: Ankit
authors.initials: A
authors.lastname: Bansal
authors.affiliation: Departments of Neuroradiology, All India Institute of Medical Sciences New Delhi India.
authors.forename: Ajay
authors.initials: A
authors.lastname: Garg
authors.affiliation: Departments of Neurosurgery.
authors.forename: Bhawani S
authors.initials: BS
authors.lastname: Sharma
keywords: Anophthalmia; autosomal recessive; inherited; unilateral