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.
Koblylinksi O : Uber eine flughautähnliche Ausbreitung am Haise. Arch Anthropol 1883, 14: 342–811.
Noonan JA and Ehmke DA : Associated non-cardiac malformations in children with Congenital heart disease. J Paed 1963, 63: 468–70.
Optiz JM, Summitt RL, Sarto GE : Noonan's Syndrome in girls: A genocopy of the Ullrich-Turner syndrome. J Pediatr 1965, 67: 968.
Duncan et al: A comprehensive scoring system for evaluation Noonan Syndrome. Am J Med Genet 1981, 10: 37–50.
Nora JJ and Freaser FC : Medical Genetics: principles and practice. 2nd ed. Philadelphia: Lea and Febiger, 1981.
Mendez HM and Opitz JM : Noonan Syndrome: A review. Am J Med Genet 1985, 212: 493–506.
Calder IG and Willshaw HE : Noonan's syndrome in association with Brown's superior oblique tendon sheath syndrome. Brit Orthopt J 1984, 41: 58–9.
Kleanthous L, D'Cruz, D, Graham, E, Efthimiou J : Colobomata associated with Noonan's syndrome. Postgrad Med J 1987, 63: 559–61.
Schwartz DE : Noonan's Syndrome associated with ocular abnormalities. Am J OphthalmoI 1972, 73: 955–9.
Stengel-Rutkowski S, Schimanek P, Wernheimer A : Anthropometric definitions of dysmorphic facial signs. Hum Genet 1984, 67: 272–95.
Chrousos GA et al: Ocular findings in Turner Syndrome. Ophthalmology 1984, 91: 926–8.
Lessell S and Forbes A : Eye signs in Turner's Syndrome. Arch Ophthalmol 1966, 76: 211–13.
Adhikary HP : Ocular manifestations of Turner's Syndrome. Trans Ophthalmol Soc UK 1981, 101: 395–6.
Caputo AR, Wagner RS, Reynolds DR, Guo S, Goel AK : Down's Syndrome. Clinical Review of Ocular Features. Clin Paed 1989, 28: 355–8.
Shapiro MB and France TD : The Ocular Features of Down's Syndrome. Am J Ophthalmol 1985, 99: 659–63.
Yamashita S, Nakamura S, Kakimotos S, Nakamura T : Ocular findings in Down's Syndrome. Jap J Clinophthal 1973, 27: 1292–99.
Opitz JM and Weaver DD : The neurofibromatosis-Noonan Syndrome. Am J Med Genet 1985, 21: 477–90.
Huson S, Jones D, Beck L : Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol 1987, 71: 235–8.
Bleshoy H : Sensitivity and neuropathology in the Keratoconic Cornea: PHD. City University, Northampton Square, London. 1990.
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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
- Corneal Nerves
- Corneal Dystrophy
- Down's Syndrome
- Epicanthic Folds
- Myelinated Nerves
- Optic Disc Drusen
- Palpebral Apertures
- Turner's Syndrome
- Noonan Syndrome
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