Short report
Ocular manifestations of Noonan syndrome in the pediatric patient

Presented as a poster at the 2003 annual meeting of the American Association for Pediatric Ophthalmology and Strabismus, Waikoloa, HI, March 23-27, 2003.
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Methods

Ten patients were identified between the North Shore–Long Island Jewish Health System Department of Ophthalmology and the Schneider Children's Hospital Department of Genetics who underwent ophthalmic examinations between July 1994 and June 2003. The charts were reviewed for birth history, medical history, ocular history, family history, and ocular findings. All patients had a diagnosis of Noonan syndrome per clinical criteria determined by a geneticist.

Results

Age at initial ophthalmology evaluation at our institution ranged from 1 month to 13 years (mean 4 years). Follow-up ranged from 1 month to 5 years. Four patients were male, and 6 were female. Family history was pertinent in 3 patients each whose mothers had Noonan syndrome.

Birth history was remarkable for prematurity (n = 3). Two children were born at 32 weeks and 1 child at 36 weeks. Medical history was most notable for developmental delay (n = 9) and congenital heart defect (n = 6),

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There are more references available in the full text version of this article.

Cited by (13)

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    However, we found a marked asymmetry between the right and left eye as a characteristic manifestation of NS. Although palpebral fissures of patients with NS are described to be characteristically downward slanting,18,19,25 we found an equal number of patients with abnormal upward-slanting palpebral fissures, which is a new ocular manifestation. Marin et al19 describe 35 patients with PTPN11 mutations, with downward-slanting palpebral fissures as the most frequent finding in 74% of the patients.

  • Congenital absence of the superior oblique tendon in Noonan- neurofibromatosis syndrome

    2011, Journal of AAPOS
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    Strabismus was noted in 48% of cases of which 46% were esotropia, 36% were exotropia, 14% had a vertical element, and 4% were mixed. In another study, Reynolds and colleagues6 revealed ≥1 ocular abnormality in each of the 10 pediatric patients, including nasolacrimal duct obstruction and dermoid cyst. Strabismus was noted in 6 of 10 cases, of which 3 were accommodative esotropia and 3 were intermittent exotropia.

  • Ocular features in Egyptian genetically disabled children

    2011, Egyptian Journal of Medical Human Genetics
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    Shaw et al. [52] reported that the characteristic facial features of Noonan syndrome include hypertelorism (74%), epicanthal folds (39%), down-slanting palpebral fissures (38%), ptosis (48%), strabismus (48%), refractive errors (61%), amblyopia (33%), nystagmus (9%), cataracts, uveitis and retinal findings (20%), as well as less common findings of optic disc hypoplasia, coloboma, and keratoconus. Ptosis associated with Noonan syndrome has been described by many authors [53,54]. Most of the previous findings were not reported in our patients.

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JAAPOS 2004;8:282-283.

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