Congenital Anophthalmia and Microphthalmia

Anophthalmia and microphthalmia (AM) are rare ocular developmental disorders in which one or both eyes are absent or abnormally small. Malformations can be limited to the globe, or involve the orbit, such as associated orbital cysts and/or insufficient development of the orbital bones and eyelids. Aetiology of AM is believed to be mainly genetic, with environmental, infectious, nutritional and other exogenous factors also playing a role. Recent advances in genetics have enhanced our understanding of the genetic basis of AM, as well as improving diagnosis and genetic counselling. A comprehensive ophthalmic and paediatric screening is required to detect any other anomalies, and imaging should be performed to assess the orbital content and the presence of an associated cyst. Management requires a multidisciplinary approach including oculoplastic surgeons, ocularists, paediatricians and geneticists. When there is no visual potential, the goal is to achieve the best possible aesthetic outcomes by early socket expansion, which is crucial for minimising the potential impact of AM on facial growth and development. Cosmetic rehabilitation can be achieved with conservative or surgical approaches, including ocular prostheses, socket or orbital expansion, with or without socket and/or eyelid reconstructive surgery. In AM with orbital cyst, the timing of cyst removal is important to avoid distortion of the periorbital tissues.