Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of bilateral aniridia, cataract and mental deficiency is described in a girl with an interstitial deletion of the short arm of chromosome 11. The child died of pneumonia and on autopsy bilateral gonadoblastoma was detected, but no Wilms' tumour. Partial deletion of the short arm of chromosome 11 seems to be a clinically recognizable syndrome with aniridia, cataract and renal, gonadal or genital dysmorphogenesis.
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PMID:Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report. 61 91

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.
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PMID:Is the phakic eye normal in monocular pediatric aphakia? 143 23

A series of 15 patients with Peters' anomaly observed from 1987-1991 and a patient showing Wolf-Hirschhorn syndrome were studied retrospectively. Combined ocular anomalies were: microphthalmos (9x), myopia (4x), aniridia (2x), cataract (2x). Five of the patients had combined general anomalies: mental retardation, deafness, cardiac malformation (ASD II), and luxatio coxae. In two of them chromosomal anomalies were found: 4p minus syndrome, mosaic trisomy 9. After comparison of these data with those known from the literature the author confirms that Peters' anomaly is a morphologic finding rather than a distinct entity. Treatment depends on individual histopathologic findings and on the psychophysical development of the child.
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PMID:Peters' anomaly and combination with other malformations (series of 16 patients). 149 63

Juvenile (including congenital and infantile) cataract occurs commonly as part of a more generalized or systematic condition, or as a component of a syndrome. Isolated juvenile cataract is a relatively rare disorder and the mode of inheritance is often autosomal dominant. Autosomal recessive transmission of isolated juvenile cataract is rare. The present paper is a report of 15 cases of juvenile cataract on the Aland Islands (Finland) with about 23,000 inhabitants. Twelve belong to 7 sibships of two different pedigrees and 3 cases are sporadic, of which we have found no genealogical connections in the last 6-10 generations to the two cataracta pedigrees. One of the sporadic cases presented an operated cleft palate and a chromosomal anomaly. In another sporadic case the mother probably had been infected with rubella during early gestation. In the third sporadic case the cataract was combined with partial aniridia, but he has several genealogical connections to one of the cataract pedigrees. Consanguinity between the parents was detected in 5 of the 7 sibships, in some even on various ancestral levels. Apart from the cataracts, all patients were healthy, with normal intellect, behavior, hearing, growth and development. They were neurologically intact and there were no ocular lesions apart from cataract. In the Alandic familial cases the cataracts appear to be an autosomal recessive trait. A family branch originating from southwestern Sweden and south Norway showed transmission of the cataract in three successive generations. The possibility of quasi-dominant inheritance is discussed against the background that autosomal recessive juvenile cataract may not be so rare as the small number of recorded cases would suggest.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Juvenile cataract with autosomal recessive inheritance. A study from the Aland Islands, Finland. 155 71

Aniridia is an uncommon disorder that may be associated with glaucoma that is usually refractory to conventional medical and surgical therapy. In this study, we report our experience with the surgical management of glaucoma in aniridia in 17 eyes of 10 patients. A total of 45 surgical procedures were performed. The mean preoperative intraocular pressure was 38 mm Hg. The intraocular pressure was ultimately controlled successfully in 11 eyes (intraocular pressure range, 8 to 20 mm Hg) with a mean of 2.8 surgical procedures required in successful cases. Trabeculectomy controlled the intraocular pressure in one eye, but it was successful in only 9% of cases in which it was performed. Cyclocryotherapy was successful in five eyes (25% of cases in which it was performed), although complications of phthisis bulbi and progressive cataract occurred. We detail our experience with the Molteno implant, which was successful in five eyes (83% of cases in which it was performed). We have found this type of drainage device to be effective in controlling intraocular pressure in aniridic eyes when previous attempts at control have failed.
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PMID:The results of glaucoma surgery in aniridia. 156 57

Visual rehabilitation of patients with aniridia and progressive cataract is a challenging clinical problem. Reduced corneal transparency, limitations of iris support, and decreased zonular integrity may make extracapsular cataract surgery difficult. Four patients with familial aniridia had substantial visual improvement after successful extracapsular cataract extraction (ECCE) with implantation of capsular-fixated posterior chamber intraocular lenses (PC IOLs). In one patient, it was combined with trabeculectomy to treat chronic open-angle glaucoma. Posterior chamber IOLs can be safely implanted in the aniridic eye normalities in the anterior segment.
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PMID:Posterior chamber intraocular lenses after extracapsular cataract extraction in patients with aniridia. 151 67

Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adaptation; abnormal a or/and b waves in dark or/and light adapted ERG or abnormal oscillatory potentials. The ERG abnormalities reflected the disturbances either in the outer retina such as photoreceptors or in the structures of inner retina. The preserved visual function and several ocular abnormalities show that the aniridia may be a consequence of several pathogenetic mechanisms. This fact supported the opinion that congenital aniridia would be a concurrent failure of both ectoderm and mesoderm in embryonate development.
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PMID:Abnormalities of ERG in congenital aniridia. 184 69

We report on our results of transscleral Nd-YAG-cyclophotocoagulation on 27 eyes with refractory glaucoma. Cyclophotocoagulation was performed with similar parameters according to our findings of morphological investigation in normal human donor eyes. 9 eyes had hemorrhagic glaucoma, 10 eyes had secondary glaucoma after intraocular silicone oil tamponade because of proliferative diabetic retinopathy or because of complicated retinal detachment with proliferative vitreoretinopathy. None of the patients in this group had silicone oil in the anterior chamber, silicone oil emulsification and only one eye had rubeosis iridis. The third group of 8 eyes had glaucoma with aniridia, post-traumatic or postinflammatory glaucoma, glaucoma after extraction of a congenital cataract and one eye with an absolute painful pseudoexfoliation glaucoma. The effects were applied coaxially through the conjunctiva at 1 to 1.5 mm distance from the limbus. The energy was between 3.8 and 4.2 Joules, the exposure time was 10 ms. The focus of the laser beam was placed 3.6 mm posteriorly with a focus adjustment of 9 at the LASAG Microruptur 2. The mean postoperative observation period was 7.5 months. Among the group of hemorrhagic glaucomas the intraocular pressure could in 78% be lowered below 22 mmHg, in 60% among the secondary glaucomas after intraocular silicone oil application and in 50% among the heterogenous third group. In eyes with preceding cyclocryocoagulation 82% fulfilled this criterion. The intraocular pressure stayed stable after 4 weeks at a mean level of 40% below the preoperative values. In all cases the intraocular pressure was at least lowered by 14 mmHg. Vision was reduced in three eyes by the underlying disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical use and results of trans-scleral Nd-YAG cyclophotocoagulation in therapy-refractory glaucoma]. 205 34

Wilms's tumour is a paediatric tumour of hereditary origin in 40% of cases. In children with Wilms's tumour associated congenital anomalies are frequent, particularly congenital anomalies of the kidney and urogenital tract. Over the period from 1972 to 1987 the authors carried out a prospective study and systematically investigated congenital major and minor anomalies in 24 children with Wilms's tumour. They revealed the presence of aniridia, bilateral cataract and cryptorchidism in 1/24 children, mental retardation, small stigated congenital major and minor anomalies in 40 chidism in 1/40 children, mental retardation, small stature and a cystic kidney in 1/40, mental retardation in 3/40. A detailed investigation of minor anomalies confirmed the presence of 2 to 3 anomalies in all observed children. Cytogenetic investigation was performed in all children. Only in a child with aniridia Wilms's tumour a cytogenetic anomaly, 11p deletion, was found.
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PMID:[Major and minor congenital anomalies in children with Wilms' tumor]. 217 Nov 48


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