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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]
DURHAM, N.C., Jan. 08, 2025 (GLOBE NEWSWIRE) -- Atsena Therapeutics, a clinical-stage gene therapy company focused on bringing the life-changing power of genetic medicine to reverse or prevent blindness, today announced the initiation of Part B of the LIGHTHOUSE study, a Phase I/II clinical trial evaluating subretinal injection of ATSN-201 for the treatment of X-linked retinoschisis (XLRS).
Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life.
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.
X-linked cone-rod dystrophy, type 1 is a rare progressive genetic disorder of the vision which is characterized by progressive myopia, photophobia, abnormal color perception, lowered photopic electroretinigraphic response, and macular retinal pigment epithelium granularity. The severity of the symptoms is variable.
For example, the X M*L* Y male may have blue-cone monochromacy if the genes are both missing/non-functional, or near-normal color vision if both genes are anomalous. Y : male-only chromosome (no effect on colorblindness) X : X chromosome will have two subscripts indicating the alleles present: M : normal M opsin allele; L : normal L opsin allele
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.