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A case of ablepharon macrostomia syndrome requiring multidisciplinary care

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Ablepharon macrostomia syndrome (AMS) is a rare condition characterised by absent or extremely short eyelids and a large fish-like mouth. The lack of eyelids results in exposure keratopathy and severe… Click to show full abstract

Ablepharon macrostomia syndrome (AMS) is a rare condition characterised by absent or extremely short eyelids and a large fish-like mouth. The lack of eyelids results in exposure keratopathy and severe visual impairment from a young age. Systemic clinical features include rudimentary ears with attached lobes, absent or rare body hair, thin and redundant skin, absent nipples, a distended abdomen, and genital ambiguity. The following case illustrates a patient with AMS in which multidisciplinary care was used to provide comprehensive optometric management.

Keywords: macrostomia syndrome; multidisciplinary care; case ablepharon; ablepharon macrostomia

Journal Title: Clinical and Experimental Optometry
Year Published: 2021

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