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Atypical presentations of non-familial anterior megalophthalmos: a rare disease
  1. Aparna Rao1 and
  2. Rakhi P Dcruz2
  1. 1Head of Department, Glaucoma Services, L V Prasad Eye Institute, Bhubaneswar, India
  2. 2LV Prasad Eye Institute, Bhubaneswar Campus, Bhubaneswar, India
  1. Correspondence to Dr Rakhi P Dcruz; rakhipdcruz{at}gmail.com

Abstract

Anterior megalophthalmos usually presents early in life with megalocornea, deep anterior chamber, raised intraocular pressure, glaucomatous optic nerve damage and iridodonesis/stromal thinning with positive family history. We report atypical features and presentations in two patients (four eyes) with non-familial megalophthalmos. While the first patient, a male, presented at 51 years of age with megalocornea, cataract, phacodonesis, normal pupillary dilatation/normal iris and advanced glaucoma, the second patient presented with iridodonesis with stromal thinning, aphakia and advanced glaucoma. The family history was negative in both patients. The vitreous index was unusually high, >70% in all four eyes, owing to aphakia in the second patient and possible late presentation/variant phenotype in the first patient. Thus, atypical features such as greater vitreous length, absent iris involvement and late-onset adult presentation are common in non-familial anterior megalophthalmos. Clinical surprises due to varied phenotypes should be kept in mind in such cases.

  • glaucoma
  • congenital disorders

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Footnotes

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  • Contributors APR was involved in data collection, manuscript writing, review of literature and conception of idea. RPD was involved in manuscript editing and review of literature.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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