Anophthalmos Differential Diagnoses

Updated: Aug 06, 2021
  • Author: Nick Mamalis, MD; Chief Editor: Donny W Suh, MD, MBA, FAAP, FACS  more...
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Diagnostic Considerations

Congenital anophthalmia is a developmental disorder in which the eye does not develop or is underdeveloped. The diagnosis can be made based on observation. Many causes lead to congenital anophthalmia, including hereditary genetic conditions and de novo genetic conditions. While laboratory analysis can elucidate the genetic sequence that leads to this condition, the results are academic; the identification of the genes may not improve the treatment and outcome of the patient. The diagnostic and therapeutic strategy in congenital anophthalmia is mainly to identify and treat associated abnormalities and to maximize the patient's function without vision.