Ocular manifestations of Noonan syndrome

Abstract

Noonan syndrome is a genetic condition inherited in an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic features of Turner's syndrome, but a normal Karyotype.

The ophthalmological and orthoptic findings on 58 patients with Noonan syndrome are reported. External features were hypertelorism (74%), downward sloping palpebral apertures (38%), epicanthic folds (39%) and ptosis (48%). The orthoptic examination revealed strabismus in 48%, refractive errors in 61%, amblyopia in 33%, and nystagmus in 9% of cases.

Sixty-three per cent of cases had anterior segment changes consisting of: Prominent corneal nerves (46%), anterior stromal dystrophy (4%), cataracts (8%) and panuveitis (2%). Fundal changes occurred in 20% of the study group, including optic nerve head drusen, optic disc hypoplasia, colobomas and myelinated nerves.

Forty-seven per cent required non surgical treatment and a further 16% had undergone surgery for strabismus or ptosis. Only three patients had no visual defects. With such a high incidence of ophthalmic abnormalities it is clearly important that children with Noonan syndrome are screened by an ophthalmologist at an early age.

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Correspondence to N B Lee.

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Lee, N., Kelly, L. & Sharland, M. Ocular manifestations of Noonan syndrome. Eye 6, 328–334 (1992). https://doi.org/10.1038/eye.1992.66

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Keywords

  • Amblyopia
  • Cataracts
  • Corneal Nerves
  • Corneal Dystrophy
  • Down's Syndrome
  • Epicanthic Folds
  • Hypertelorism
  • Myelinated Nerves
  • Neurofibromatosis
  • Optic Disc Drusen
  • Palpebral Apertures
  • Ptosis
  • Squint
  • Strabismus
  • Turner's Syndrome
  • Uveitis
  • Noonan Syndrome
  • Nystagmus

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