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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]
Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a misshaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural hearing loss, facial features such as hypertelorism (unusually wide-set eyes), and developmental delay.
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 ...
The company focuses on ophthalmologic genetic diseases. The company's technologies are aimed at products that might have the potential to treat achromatopsia, X-linked retinoschisis, [5] [6] X-linked retinitis pigmentosa, [7] and age-related macular degeneration. [8]
Ocular albinism type 1 (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. [1] [2] It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal.
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 ...
The Mizuo–Nakamura Phenomenon is a phenomenon observed in Oguchi's disease. [1] It was named after Gentaro Mizuo (1876–1913) and Bunpei Nakamura (1886–1969), Japanese ophthalmologists.