Traducción y análisis de palabras por inteligencia artificial ChatGPT
En esta página puede obtener un análisis detallado de una palabra o frase, producido utilizando la mejor tecnología de inteligencia artificial hasta la fecha:
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- frecuencia de uso
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- ejemplos de uso (varias frases con traducción)
- etimología
Qué (quién) es dystrophia pigmentosa hereditaria - definición
![cone]] photoreceptors. The elongated rods are colored yellow and orange, while the shorter cones are colored red.](https://commons.wikimedia.org/wiki/Special:FilePath/ScanEMphoto.jpg?width=200 "cone]] photoreceptors. The elongated rods are colored yellow and orange, while the shorter cones are colored red.")
Wikipedia
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood.
Retinitis pigmentosa is generally inherited from one or both parents or rarely it can be caused by a miscoding during DNA division. It is caused by genetic miscoding of proteins in one of more than 300 genes involved. The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball. The rod cells secrete a neuroprotective substance (Rod-derived cone viability factor, RdCVF) that protects the cone cells from apoptosis (cell death). However, when the rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photoreceptor cells. Diagnosis is by eye examination of the retina finding dark pigment deposits caused by the rupture of the underlying retinal pigmented epithelial cells, given that these cells contain a pigment known as melanin. Other supportive testing may include the electroretinogram (ERG), visual field testing (VFT), ocular coherence tomography (OCT) and DNA testing to determine the gene responsible for a person's particular type of RP (now called Inherited Retinal Dystrophy (IRD).
There is currently no cure for retinitis pigmentosa. Efforts to manage the problem may include the use of low vision aids, portable lighting, or orientation and mobility training. Vitamin A palmitate supplements may be useful to slow worsening. A visual prosthesis may be an option in certain people with severe disease.
Currently there is only one FDA-approved gene therapy that is commercially available to RP patients with Leber congenital amaurosis type 2. It replaces the miscoded RPE65 protein that is produced within the retinal pigmented epithelium. It has been found to effectively work in about 50% of the patients who receive the therapy. The earlier the child receives the RPE65 therapy the better the chances for a positive outcome. There are many other therapies being researched at this time with the goal of being approved in the next few years.
It is estimated to affect 1 in 4,000 people.
