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

A family with autosomal dominant megalocornea was studied clinically and echographically. The anterior chamber angles, intraocular pressures and axial lengths were all normal. These findings strongly support the dualist proposition which contends that etiologically, megalocornea and congenital glaucoma are distinct.
J Pediatr Ophthalmol Strabismus
PMID:Megalocornea: a clinical and echographic study of an autosomal dominant pedigree. 638 19

Information is reviewed on the ophthalmologic findings in 614 individuals with Rubinstein-Taybi syndrome (RTS). The data were collected from the world literature, from communication with colleagues and with families of individuals with RTS, and from personal observations. Particular emphasis is given in this article to the association of RTS with glaucoma and five other findings that may be confused with glaucoma (corneal lesions, megalocornea, colobomatous or cystic optic nerve, excavation of papilla, and large cup-to-disc ratio). A case report is presented including autopsy results on a 5-year-old black female with RTS, corneal lesions, colobomas of the optic nerves, and normal intraocular pressure.
J Pediatr Ophthalmol Strabismus
PMID:Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome. 749 63

Leber congenital amaurosis has been associated with keratoconus and it has been postulated that this is due to eye rubbing, the oculo-digital sign, because of poor vision. Six schools for the blind were visited, and 174 children with a visual acuity of less than 3/60 examined. Thirty-five children had Leber amaurosis, and 10 of these had keratoconus (29%) and one had keratoglobus (3%). The six pedigrees of the cases with Leber amaurosis and keratoconus are presented in detail. Only 3 of the 139 other blind children had keratoconus (P < .05) and 1 had keratoglobus. Keratoconus seems specifically associated with Leber amaurosis, probably due to genetic factors, rather than poor visual acuity per se.
J Pediatr Ophthalmol Strabismus
PMID:Leber congenital amaurosis and its association with keratoconus and keratoglobus. 819 61

Rieger's anomaly is characterized by a dysgenesis of the anterior ocular segment with peripheral iris strands, an abnormally prominent Schwalbe's line, and a stromal atrophy of the iris. Refractory secondary glaucoma frequently demands surgical intervention with an uncertain prognosis. The charts of 15 patients with Rieger's anomaly (11 male, 4 female; mean age 21 years) were reviewed with regard to surgical management and postoperative intraocular pressure (IOP). Micro-/sclerocornea, keratoglobus, and keratopathy, micro-/buphthalmia, glaucoma, cataract, spherophakia, retinal detachment, papillary drusen, strabismus, and amblyopia were found associated with Rieger's anomaly. Secondary glaucoma required glaucoma surgery in 12 patients. Trabeculectomy (with or without mitomycin) and cyclodestructive surgery (cyclocryotherapy or cyclophotocoagulation) yielded IOP regulation in 50% of the treated eyes at a follow-up of 1 year. Cyclodestructive interventions displayed a very limited prognosis in eyes with preoperative maximal IOP values of > 45 mmHg. An obvious decline in visual acuity was observed in all patients, depending on the duration of glaucoma.
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PMID:Outcome of anterior-segment surgery in Rieger's anomaly. 947 33

A 13-year-old boy presented with gradually progressive deterioration of vision in both eyes, bilateral photophobia, and regular headaches. Clinical examination, anterior segment findings, and specular microscopy findings were consistent with the diagnosis of posterior polymorphous dystrophy and keratoglobus. To the authors' knowledge, this is the first pediatric case and the second case overall of the simultaneous occurrence of posterior polymorphous dystrophy and keratoglobus.
J Pediatr Ophthalmol Strabismus 2011
PMID:Posterior polymorphous dystrophy and keratoglobus in a child. 2014 61

We describe the ocular features of the chromosome 22q11.2 duplication syndrome and provide ophthalmologic examination recommendations for affected patients. The medical records of 19 children with chromosome 22q11.2 duplication who had undergone complete ophthalmological examination, including dilated fundus examination and cycloplegic refraction, were studied retrospectively. Over half of the children with 22q11.2 duplication syndrome were found to have visually significant ocular abnormalities, including 6 with strabismus, 2 with moderately high astigmatism requiring glasses, 1 with unilateral congenital cataract requiring surgery, 1 with optic disk drusen, 1 with bilateral megalocornea with normal eye pressures, 1 with nystagmus that resolved spontaneously, and 1 with delayed visual maturation. Because of the high incidence of conditions that could affect visual development, we recommend that children with 22q11.2 duplication syndrome have a complete ophthalmological examination on diagnosis and regular vision screenings by their primary care physician thereafter.
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PMID:Ocular findings associated with chromosome 22q11.2 duplication. 2710 43