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Retinoschisis usually does not require treatment aside from glasses to improve vision [citation needed]. However, some children with X-linked retinoschisis may have bleeding in their eye. This can be treated with either laser therapy or cryosurgery. In rare cases, children may need surgery to stop the bleeding.
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]
Craniofrontonasal dysplasia; Other names: Craniofrontonasal dysostosis: This condition is inherited in an X-linked dominant manner. However, unlike most X-linked conditions, it is more severe in females, due to cell–cell interaction mechanisms involving the responsible gene when it is present in only some cells ().
X-linked recessive inheritance. Mutations in the FGD1 gene are the only known genetic cause of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of development before and after birth.
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.
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
None had genetic mutations linked to early-onset dementia, the study found. The study authors said their findings suggest a possible third way for Alzheimer’s to develop: through contaminated ...
X-linked genetic disorders can arise when there is a spontaneous and permanent change in the DNA sequence of an X-linked gene, known as mutation. Traits or diseases caused by X chromosome genes follow X-linked inheritance, the difference between recessive and dominant inheritance affects the probability of an offspring acquiring it from the ...