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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]
Retinal dysplasia X linked; Retinal telangiectasia hypogammaglobulinemia; Retinitis pigmentosa; Retinitis pigmentosa-deafness; Retinis pigmentosa deafness hypogenitalism; Retinitis pigmentosa mental retardation deafness; Retinoblastoma; Retinohepatoendocrinologic syndrome; Retinopathy anemia CNS anomalies; Retinopathy aplastic anemia ...
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.
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.
Nance–Horan syndrome, also known as X-linked congenital cataracts and microcornea, X-linked cataract–dental syndrome, cataracts-oto-dental syndrome, cataract–dental syndrome, and mesiodens–cataract syndrome, is a rare X-linked syndrome characterized by eye and teeth abnormalities, intellectual disability, and facial deformities.
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.
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.