Oxf Med Case Reports. 2025 Aug 20;2025(8):omaf133. doi: 10.1093/omcr/omaf133. eCollection 2025 Aug.
ABSTRACT
Anophthalmia is a rare congenital defect where no ocular tissue is seen, and it involves 1 out of 10 000 to 20 000 live births. It is largely part of syndromes and consists of genetic, environmental origins, or multifactorial causes. We present a case of a neonate with bilateral anophthalmia, ambiguous external genitalia, microcephaly, and renal ectopy, suggesting a syndromic etiology. Despite receiving multidisciplinary care, the patient unfortunately succumbed to complications, including refractory respiratory distress and seizures. Early diagnosis relies on timely imaging and confirmation, with management guided by appropriate genetic testing, an approach well illustrated by this case. Anophthalmia presents medical and psychosocial challenges that require a coordinated, multidisciplinary approach.
PMID:40843047 | PMC:PMC12365957 | DOI:10.1093/omcr/omaf133
