Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0038379 (
strabismus
)
9,317
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Ocular manifestations of Noonan syndrome. 144 72
We describe an unusual presentation of juvenile xanthogranuloma in a 4-year-old girl. Juvenile xanthogranuloma may be associated with posterior manifestations including optic nerve and choroidal granulomas,
panuveitis
, and vitreous hemorrhage in the absence of the classic anterior segment manifestations.
J Pediatr Ophthalmol
Strabismus
PMID:Chorioretinal involvement and vitreous hemorrhage in a patient with juvenile xanthogranuloma. 1612 56
A 5-year-old child developed
panuveitis
with choroidal lesions. Topical steroid medications were insufficient to control the inflammation long-term. Granuloma annulare was subsequently diagnosed in association with the uveitis. Systemic immunosuppression with methotrexate was eventually required to control the skin lesions and uveitis. Uveitis associated with granuloma annulare may present with choroidal lesions and
panuveitis
in children.
J Pediatr Ophthalmol
Strabismus
PMID:Panuveitis associated with granuloma annulare in a child. 1921 78
Idiopathic orbital inflammation or orbital pseudotumor is rare in the pediatric population and may present with ocular findings not normally seen in the adult population. The authors report the case of a 14-year-old boy with idiopathic orbital inflammation who presented with bilateral
panuveitis
to highlight the features that make this diagnosis more difficult in the pediatric population.
J Pediatr Ophthalmol
Strabismus
2016 Apr 23
PMID:Idiopathic Orbital Inflammation Presenting with Bilateral Panuveitis. 2711 70