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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the Netherlands five families with 34 previously unreported patients with Waardenburg syndrome were traced. Twenty-three patients with the syndrome including dystopia canthorum (Type I) were ophthalmologically examined and three patients with the syndrome without dystopia canthorum (Type II) were also examined. Ten of the 15 patients with pigmentary disorders of the iris also showed a shortage of pigment in the retina. Convergent strabismus occurred in an higher percentage of the examined patients (19%) than in the normal population (4-5%).
J Pediatr Ophthalmol Strabismus
PMID:Ophthalmological findings in 34 patients with Waardenburg syndrome. 10 23

We saw two cases of Waardenburg's syndrome in Nigerian children. A 9-year-old girl had congenital deaf-mutism, high-arched palate, complete heterochromia iridis with pigment mottling in the posterior pole of the eye with the hypochromic iris, dyspigmented frontal scalp hair, a history of vitiligo, but with no dystopia canthorum. An 11-year-old boy had a harelip with cleft palate, heterochromia iridis, blonde fundus on the eye with blue iris, and dystopia canthorum.
J Pediatr Ophthalmol Strabismus
PMID:Waardenburg's syndrome: case reports in two Nigerians. 45 27

To determine the nature and prevalence of ophthalmologic abnormalities in children with congenital or prelinguistic sensorineural deafness, we performed complete ophthalmologic examinations on 54 children aged 2 to 14 years from the University of Miami Ear Institute's Cochlear Implant Program. Of 54 children, 33 (61.1%) had some form of ophthalmologic abnormality, with the majority (24 patients; 44.4%) being refractive errors. Of 54 patients, two (3.7%) had strabismus and two (3.7%) had external adnexal anomalies. One child (1.8%) had cataracts. The cause of the deafness, which had previously been unknown, was determined in three of 54 cases (5.6%) as a result of ocular examinations documenting rubella retinopathy, tapetoretinal degeneration (Usher's syndrome), and iris heterochromia (Waardenburg's syndrome). Routine ophthalmologic examination must be mandated for this population, and the ophthalmologist should be encouraged to play a broader role in the care of children with deficiencies of both vision and audition.
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PMID:Ophthalmologic abnormalities in the pediatric cochlear implant population. 802 78

Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400) and refractive errors, color vision impairment and prominent photophobia. Misrouting of the optic nerves is a characteristic finding, resulting in strabismus and reduced stereoscopic vision. The degree of skin and hair hypopigmentation varies with the type of OCA. The incidence of skin cancer may be increased. All four types of OCA are inherited as autosomal recessive disorders. At least four genes are responsible for the different types of the disease (TYR, OCA2, TYRP1 and MATP). Diagnosis is based on clinical findings of hypopigmentation of the skin and hair, in addition to the characteristic ocular symptoms. Due to the clinical overlap between the OCA forms, molecular diagnosis is necessary to establish the gene defect and OCA subtype. Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analysis of TYRP1 and MATP is on research basis only. Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II. Carrier detection and prenatal diagnosis are possible when the disease causing mutations have been identified in the family. Glasses (possibly bifocals) and dark glasses or photocromic lenses may offer sufficient help for reduced visual activity and photophobia. Correction of strabismus and nystagmus is necessary and sunscreens are recommended. Regular skin checks for early detection of skin cancer should be offered. Persons with OCA have normal lifespan, development, intelligence and fertility.
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PMID:Oculocutaneous albinism. 1798 20

Waardenburg syndrome is a hereditary auditory-pigmentary syndrome. The major features include pigmentary disturbances and congenital deafness. Clinical findings are extremely variable, not only at the authors' institution but also in the literature. The authors describe four patients who presented with various clinical features and different genetic pedigree penetration.
J Pediatr Ophthalmol Strabismus
PMID:Waardenburg syndrome in four Mexican patients. 1934 77