Spontaneous ocular prolapse as an unusual late presentation of acrocephalosyndactyly.
A 38-year-old man presented with an unusual complaint of spontaneous left ocular prolapse, which had occurred while scratching his lower eyelid. He was noted to have an atypical facial appearance with frontal bossing and maxillary hypoplasia. Examination of the hands revealed bilateral syndactyly, suggesting a diagnosis of acrocephalosyndactyly. While it is common for eyes to prolapse in childhood in Crouzon or Apert syndrome, it is unusual for them to present in this way in middle age. It may be that age-related loss of tissue elasticity and consequent lower eyelid laxity decreased the inferior support of the globe, explaining the late presentation.
Higgins
Gareth T
GT
St. Paul's Eye Unit, Liverpool, United Kingdom.
Maxwell
Norman
N
O'Connor
Gerard
G
D000168:Acrocephalosyndactylia / Q000175:diagnosis*; D000328:Adult; D005128:Eye Diseases / Q000175:diagnosis*; D006801:Humans; D008297:Male; D009915:Orbit / Q000000981:diagnostic imaging; D011391:Prolapse; D036542:Tomography, Spiral Computed