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Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory layers, usually in the outer plexiform layer.Retinoschisis can be divided into degenerative forms which are very common and almost exclusively involve the peripheral retina and hereditary forms which are rare and involve the central retina and sometimes the peripheral retina.
Retinoschisin also known as X-linked juvenile retinoschisis protein is a lectin [5] [6] that in humans is encoded by the RS1 gene. [7]It is a soluble, cell-surface protein that plays an important role in the maintenance of the retina where it is expressed and secreted by retinal bipolar cells and photoreceptors, [8] [9] as well as in the pineal gland. [10]
Ocular albinism late onset sensorineural deafness (OASD) is a rare, X-linked recessive disease characterized by intense visual impairments, reduced retinal pigments, translucent pale-blue irises and moderately severe hearing loss from adolescence to middle-age. [1] It is a subtype of Ocular Albinism (OA) that is linked to Ocular albinism type I ...
Juvenile retinoschisis is a disease that affects the nerve tissue in the eye. This disease is an X-linked recessive degenerative disease of the central macula region, and it is caused by mutation in the RSI gene encoding the protein retinoschisin. Retinoschisin is produced in the photoreceptor and bipolar cells and it is critical in maintaining ...
X-linked RP can be either recessive, affecting primarily only males, or dominant, affecting both males and females, although males are usually more mildly affected. Some digenic (controlled by two genes) and mitochondrial forms have also been described.
Depending on the genes involved, FEVR can follow an autosomal dominant, autosomal recessive, or X-linked inheritance pattern. There is varying penetrance and expressivity depending on the genes involved. [3] While genetic testing may be useful in the diagnosis of FEVR, a negative genetic test does not rule out the disease. [1] Diagnosis
236690 Ensembl ENSG00000188937 ENSMUSG00000051228 UniProt Q9GZU5 P83503 RefSeq (mRNA) NM_022567 NM_001378477 NM_173415 RefSeq (protein) NP_072089 NP_001365406 NP_775591 Location (UCSC) Chr X: 41.45 – 41.48 Mb Chr X: 13.33 – 13.36 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Discovery The first evidence of the existence of mutation in NYX gene, encoding the leucine-rich ...
Genetic mutations are rare causes of certain retinopathies and are usually X-linked including NDP family of genes causing Norrie disease, FEVR, and Coats disease among others. There is emerging evidence that there may be a genetic predisposition in patients who develop retinopathy of prematurity and diabetic retinopathy.