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

Of 76 members of a large pedigree with familial aniridia, 61% of the 38 affected patients had visual acuity of 6/9 (20/30) or better and only 5% had acuity of 6/60 (20/200) or worse. Cataracts were present in 18% of affected patients; glaucoma in 13%; and strabismus in 34%. Sixteen percent of affected patients had strabismic amblyopia. No patient had nystagmus or corneal pannus. The good visual acuity in this family, as compared to that in others, indicates that the absence of iris tissue alone cannot account for the severe visual problems usually associated with aniridia.
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PMID:Familial aniridia with preserved ocular function. 86 70

This retrospective review of 97 pediatric patients who underwent monocular surgery for congenital or developmental cataracts studied the incidence of abnormalities in the contralateral phakic eye. Fifty-nine percent of patients had a normal phakic eye. However, 40 patients showed at least one abnormality in the phakic eye: reduced vision (21%), nystagmus (19%), cataract (15%), iris heterochromia (9%), myopia (6%), microphthalmos (6%), pupillary miosis (2%), congenital glaucoma (2%), optic nerve abnormality (2%), aniridia (1%), and corneal opacity (1%). Not all abnormalities were detected at the time of diagnosis of the contralateral cataract. The more significant findings of reduced vision and nystagmus in the phakic eye were usually detected postoperatively, often several months after the optimum time for treatment of pediatric cataracts. We suggest that monocular cataract surgery not be delayed. This will allow the best vision to be obtained for the aphakic eye, as the "sound eye" may not always be normal in monocular pediatric aphakia.
J Pediatr Ophthalmol Strabismus
PMID:Is the phakic eye normal in monocular pediatric aphakia? 143 23

A woman and her two children had apparent dominantly inherited ocular abnormalities including aniridia, ptosis, nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, and foveal hypoplasia. A broad spectrum of iris abnormalities was observed: the daughter had aniridia with persistent pupillary membrane strands traversing the anterior lens capsule; the iris of the mother and son had a velvety surface with no detailed crypts, but did have some persistent pupillary membrane tags extending from the collarette. All three family members had moderately severe bilateral ptosis, pendular nystagmus, corneal pannus, and visual acuity of 20/200. Several systemic abnormalities also were noted, including obesity and mental retardation in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. Family history indicated that the children's maternal grandmother also had similar ocular findings. We believe that this constellation of findings represents a rare, apparently dominant, variant of aniridia.
J Pediatr Ophthalmol Strabismus
PMID:Unusual variant of familial aniridia. 309 5

The prevalence and mode of inheritance of major genetic eye diseases have been investigated in China since the establishment of the Section of Ophthalmic Genetics of the Chinese Society of Genetics. Mass screening of genetic eye diseases has been undertaken in many districts in China, covering more than 700,000 people, and more than 5000 pedigrees of genetic eye diseases have been collected and analysed all over China. Based on these data, the prevalence and mode of inheritance of dyschromatopsia, degenerative myopia, retinitis pigmentosa, congenital ptosis, congenital microphthalmos, congenital cataract, congenital glaucoma, Leber's optic atrophy, corneal dystrophy, congenital nystagmus, coloboma of the eye, congenital aniridia, retinoblastoma, macular dystrophy, simple myopia, primary glaucoma, and strabismus have been investigated, and the results are presented.
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PMID:Prevalence and mode of inheritance of major genetic eye diseases in China. 350 Mar 13

Two principal hypotheses for the pathogenesis of hypoplastic iris development ("aniridia") have been proposed: 1) the ectodermal theory, positing incomplete elaboration of the cup, resulting in an absence of framework for further development; and 2) the "mesodermal" theory, wherein inadequate migration or proliferation of mesenchymal elements is proposed. Two eyes of two patients with persistent "anterior leaf" iris strand remnants which traverse the pupillary space are reported. They are differentiated from the previously described persistent tunica vasculosa lentis. The presence of a persistent pupillary iris strand suggests portions of the iris may have formed and inappropriately regressed. Recent work in cell biology highlights the importance of remodeling and cell death in revealing ultimate phenotypic expression. This alternative hypothesis suggests that aniridia may be explained in part on the basis of excessive remodeling and cell death.
J Pediatr Ophthalmol Strabismus
PMID:An alternative hypothesis for iris maldevelopment (aniridia). 350 29

Albinism is a condition in which the pigment melanin may not be synthesized from tyrosine. The fundus photographs of 24 eyes of 12 patients with the clinical diagnosis of either ocular or oculocutaneous albinism were reviewed. We observed two findings that to our knowledge have not been reported previously. Eighteen eyes of ten patients had prominent retinal vessels coursing through the putative macular area instead of arching around it. Large noncilioretinal vessels extended from the disc to the dysplastic "foveal zone" in eight eyes of five patients. Typical optic nerve hypoplasia (ONH) was seen in six eyes of four patients; features suggestive of ONH were present in an additional ten eyes of six patients. The cross-over (sharing) of clinical features between albinism and aniridia is striking and raises questions about pathophysiologic mechanisms.
J Pediatr Ophthalmol Strabismus
PMID:Retinal vascular and optic nerve abnormalities in albinism. 395 71

Goniotomy is a safe effective procedure in isolated trabeculodysgenesis occurring in children under the age of two years, and is preferred by the authors in all such cases when visibility allows. It may also be effective for varying periods of time in Sturge-Weber syndrome, Aniridia, Axenfeld's syndrome, and Lowe's syndrome when these occur in infancy. Trabeculotomy is generally preferred in children with trabeculodysgenesis over the age of three years, in situations where corneal clouding prevents adequate visualization of the trabecular meshwork, and in patients with aniridia. In the latter group, although goniotomy can be effective, its success rate is low. The absence of iris covering the lens does increase the risk of lenticular injury and, therefore, trabeculotomy is usually chosen.
J Pediatr Ophthalmol Strabismus
PMID:Goniotomy vs trabeculotomy. 647 Sep 12

Seven eyes from seven children with congenital aniridia were studied histologically in order to assess the relationship between congenital and acquired abnormalities. At the time of enucleation the children ranged in age from six days to 14 years. There was no history of previous intraocular surgery in any of the children. Besides iridic and ciliary body hypoplasia three congenital abnormalities of the anterior segment were noted: anomalous development of the anterior chamber angle, incomplete cleavage of the anterior chamber angle, and attenuation of Bowman's membrane. Three acquired abnormalities of the anterior segment were identified: corneal pannus, peripheral anterior synechiae, and lenticular degeneration. The two cases showing anomalous development of the anterior chamber angle occurred in children with a partial deletion of the short arm of chromosome 11.
J Pediatr Ophthalmol Strabismus
PMID:Congenital aniridia: a histopathologic study of the anterior segment in children. 663 51

The history of a family with aniridia (11 patients) is presented. Morphologically the following changes were found: Ptosis, microcornea, anterior embryotoxon, defects of the iris ranging from corectopia and coloboma to hypoplasia of the iris and clinical aniridia cataracts and hypoplasia of the fovea. Functionally there was reduced visual acuity (best vision 0.2), nystagmus and strabismus. Dark adaptation, electrooculogram, photopic and scotopic electroretinogram were within normal limits. The patients were found to have a red-green color vision deficiency, which was perhaps caused by foveal hypoplasia and nystagmus, and a trito defect which could not be explained.
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PMID:[Morphological and functional findings in a family with aniridia (author's transl)]. 697 63

Three additional cases of keratolenticular adhesion and aniridia have been reported. A review of the embryology and terminology in the description of complex lesion of the anterior segment might suggest the more general phrase, anterior segment dysgenesis, to have advantage. Finally, the simultaneous occurrence of anterior segment anomalies and hemophilia is reported.
J Pediatr Ophthalmol Strabismus
PMID:Anterior segment dysgenesis keratolenticular adhesion and aniridia. 698 67


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