Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-year-old retarded child was seen by an ophthalmologist because of strabismus. Examination of the optic nerve heads revealed cupping consistant with glaucoma and initiated a referral. The appearance of this girl, with flat-broad based thumbs and toes, small head, low set ears, high arched brows, antimongoloid slant to the eyes, high arched palate, associated with mental retardation, and strabismus suggested the Rubinstein-Tabyi Syndrome. Gonioscopy revealed a high iris insertion, while tonometry indicated mildly elevated pressures in the right eye. Examination of the optic nerve heads showed large glaucomatous type cups, more so on the right with compromise of the temporal rim. Trabeculectomy was effective in controlling the intraocular pressure in the right eye. The association of juvenile glaucoma with the Rubinstein-Taybi Syndrome requires that ophthalmic referral to assess glaucoma be an essential part of the evaluation.
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PMID:Juvenile glaucoma in the Rubinstein-Taybi syndrome. 101 93

Report of 2 cases of Rubinstein-Taybi-syndrome. Description of the well known symptoms: Mental and somatic retardation, broad thumbs and toes, highly arched palate, retarded bone age, fine hair on limbs. Besides that there were eye abnormalities: Antimongoloid slant, strabismus, ametropia, monolateral ptosis, papillatrophia, latent nystagmus. Discussion of the differential diagnosis.
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PMID:[Ocular symptoms in Rubinstein-Taybi-syndrome (author's transl)]. 121 29

The aim of this article is to show the main general and ocular characteristics of a group of 46 mentally handicapped people of different IQ and age who were provided with visual care. Many different syndromes and neurological alterations have been described in the literature. The case types and number of people studied for each condition attending our clinics were: syndromes: Down's (25), Soto (2), West (2), Rubinstein-Taybi (1), triple X (1); neurological conditions: cerebral palsy (8), microcephaly (5), hydrocephaly (2). In our study the ocular findings were high incidence of ametropies: 58.7% hyperopia, 21.7% myopia, 19.5% astigmatism and 28% strabismus.
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PMID:Ocular dysfunction associated with mental handicap. 852 80

Rubinstein-Taybi syndrome, known also as "Broad Thumb-Hallux syndrome", was first recognized by Rubinstein and Taybi in 1963 and is characterized by somatic and ophthalmologic signs. Most commonly somatic changes are: broad thumbs and hallux, craniofacial dysmorphism, growth and psychomotor retardation. Most frequently reported eye anomalies are: antimongoloid slant of the palpebral fissures, strabismus, congenital obstruction of the lacrimal excretory system, colobomas of the iris and of the optic nerve head, ametropia.
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PMID:[Ocular signs in Rubinstein-Taybi's syndrome]. 1191 86