Ocular manifestations of Noonan syndrome

Abstract

SUMMARYNoonan syndrome is a genetic condition inherited in an autosomally dominant manner, characterised by congen ital 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 stra bismus 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 pan uveitis (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.

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

“…These include external features (e.g., ptosis, widely spaced eyes, downward-slanting palpebral fissures) as well as conditions like strabismus and nystagmus (Marin et al 2012). Refractory errors affect about 2/3 of individuals with NS (Lee et al 1992). Alfieri et al (2008) administered examinations of visual function to 24 individuals with NS or NSML and reported abnormal results on 83 % of the tests involving ocular movements, acuity, and stereopsis.…”

“…Given the prevalence of both sensorineural and conductive hearing loss in NS (Qiu et al 1998), a referral should be made to an audiologist for further testing if auditory concerns are suspected. A vision assessment may also be appropriate, as eye conditions and refractory errors are well-documented (Lee et al 1992).…”

Síndrome de Noonan: relato de caso

“…Anormalidades oculares foram encontradas em 95% de 58 pacientes com SN (13) . As alterações oculares mais freqüentes foram hipertelorismo, erros refracionais e alterações no segmento anterior, demonstrando a grande importância da oftalmologia no acompanhamento desses pacientes.…”

“…Já as alterações órbito-oculares compreendem: hipertelorismo, ptose palpebral, epicanto, estrabismo, proptose, anormalidades do segmento anterior do olho (5)(6)8) ; alta miopia (8) ; albinismo ocular (9) ; ruptura espontânea da córnea (10) ; fissuras palpebrais (11) ; ceratocone e coloboma de disco óptico (12) ; catarata, panuveítes, drusas e hipoplasia do disco óptico (13) .…”

Noonan’s Syndrome Diagnosed at Second Decade of Life

“…Low set ears, hypertelorism also seen in such patients. 8,9 Our patient had a triangular face and short neck with webbing and large head.…”