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)

We report the results of cataract extraction in 26 eyes of 16 patients with retinitis pigmentosa or Usher's syndrome. There was no unusual incidence of intraoperative or postoperative complications in this group. After adequate preoperative counseling, and after we made certain that the patients' expectations were in line with anticipated results, 15 of our 16 patients were satisfied with the surgical outcome. Four patients who had a conventional cataract extraction with postoperative contact lens wear in one eye and an intraocular lens implanted in the other eye preferred the eye with the implant. There was no evidence that intraocular lens implantation interfered with the post-cataract-extraction care of the patients.
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PMID:Cataract extraction and intraocular lens implantation in patients with retinitis pigmentosa or Usher's syndrome. 371 9

In the evaluation of the genetic heterogeneity of congenital cataract and in establishing the nosologic diagnosis the cooperation of the ophthalmologist and geneticist is necessary. The importance of ophthalmologic syndromology for genetic counseling is shown in cases of Fraser's syndrome (McKusick No. 21,900), Usher's syndrome (N. 27,690), a syndrome involving acromegaly, cutis verticis gyrata and corneal leukoma (No. 10,210), a syndrome with congenital cataract, microphthalmia and nystagmus (No. 21,255), and a presumably new dominant hereditary cataract-vitiligo syndrome.
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PMID:Genetic counseling in congenital eye disorders. 641 63

I analyzed the frequency and severity of posterior subcapsular cataracts in 291 patients with various forms of hereditary retinal degeneration, including typical retinitis pigmentosa (rod-cone degeneration), cone-rod degeneration, Usher's syndrome, and choroideremia. The overall frequency of posterior subcapsular cataract was 41%, less than generally thought. Posterior subcapsular cataracts were least common in cone-rod degeneration, and most common in the group with autosomal dominant retinitis pigmentosa. Only in the group with sporadic retinitis pigmentosa was a significant sex preference noted; females were affected more often (P less than or equal to .002). Severity was related to age of the patient and duration of disease in those affected. Posterior subcapsular cataract formation is unlikely to be an intrinsic expression of the various genes of hereditary retinal degeneration.
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PMID:The frequency of posterior subcapsular cataract in the hereditary retinal degenerations. 709 Dec 61

Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the progressive loss in the peripheral visual field in daylight, and eventually leading to blindness after several decades. Some extreme cases may have a rapid evolution over two decades or a slow progression that never leads to blindness. In some cases, the clinical presentation is a cone-rod dystrophy, in which the decrease in visual acuity predominates over the visual field loss. RP is usually non syndromic but there are also many syndromic forms, the most frequent being Usher syndrome. To date, 45 causative genes/loci have been identified in non syndromic RP (for the autosomal dominant, autosomal recessive, X-linked, and digenic forms). Clinical diagnosis is based on the presence of night blindness and peripheral visual field defects, lesions in the fundus, hypovolted electroretinogram traces, and progressive worsening of these signs. Molecular diagnosis can be made for some genes, but is not usually performed due to the tremendous genetic heterogeneity of the disease. Genetic counseling is always advised. Currently, there is no therapy that stops the evolution of the disease or restores the vision, so the visual prognosis is poor. The therapeutic approach is restricted to slowing down the degenerative process by sunlight protection and vitaminotherapy, treating the complications (cataract and macular edema), and helping patients to cope with the social and psychological impact of blindness. However, new therapeutic strategies are emerging from intensive research (gene therapy, neuroprotection, retinal prosthesis).
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PMID:Retinitis pigmentosa. 1703 66

We report a rare brain developmental anomaly in Usher's syndrome. We present a 43-year-old male with visual disturbance, hearing loss, and headache. Retinitis pigmentosa and sensorineural hearing loss were determined and he was diagnosed with Usher's syndrome according to the clinical findings. Magnetic resonance imaging showed an arachnoid cyst on the left temporal lobe, cavum septum pellucidum et vergae. Uneventful cataract surgery was performed in both eyes. He was suggested to be followed up periodically for the arachnoid cyst and to use a hearing device. Although auditory and visual disturbances are the typical findings of this syndrome, it may affect other parts of the central nervous system as well. Morphological abnormalities of central nervous system and related disorders can be seen in patients with Usher's syndrome.
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PMID:A rare brain developmental anomaly in a patient with Usher's syndrome. 1900 19

KMeyeDB (http://mutview.dmb.med.keio.ac.jp/) is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser with smooth user-interface, without user registration. The results are displayed on the graphical windows together with statistical calculations. All mutations and associated data have been collected from published articles. Careful data analysis with KMeyeDB revealed many interesting features regarding the mutations in 167 genes that cause 326 different types of eye diseases. Some genes are involved in multiple types of eye diseases, whereas several eye diseases are caused by different mutations in one gene.
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PMID:KMeyeDB: a graphical database of mutations in genes that cause eye diseases. 2023 14

Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2-23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non-syndromic deafness locus DFNB48.
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PMID:Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. 2023 15

Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.
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PMID:[Usher syndrome: about a case]. 2897 19