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Pleiotropy describes the genetic effect of a single gene on multiple phenotypic traits. The underlying mechanism is genes that code for a product that is either used by various cells or has a cascade-like signaling function that affects various targets.
[29] [33] [34] Most people who suffer from RP are born with rod cells that are either dead or dysfunctional, so they are effectively blind at nighttime, since these are the cells responsible for vision in low levels of light. What follows often is the death of cone cells, responsible for color vision and acuity, at light levels present during ...
The goal of gene therapy studies is to virally supplement retinal cells expressing mutant genes associated with the retinitis pigmentosa phenotype with healthy forms of the gene; thus, allowing the repair and proper functioning of retinal photoreceptor cells in response to the instructions associated with the inserted healthy gene.
The genes also play a role in the development and stability of the retina by influencing the structure and function of both the rod photoreceptor cells and supporting cells called the retinal pigmented epithelium. Mutations that affect the normal function of these genes can result in retinitis pigmentosa and resultant vision loss. [citation needed]
The retina of the human eye contains photoreceptive cells called cones that allow color vision. A normal trichromat possesses three different types of cones to distinguish different colors within the visible spectrum. The three types of cones are designated L, M, and S cones, each containing an opsin sensitive to a different portion of the ...
Familial exudative vitreoretinopathy (FEVR, pronounced as fever) is a genetic disorder affecting the growth and development of blood vessels in the retina of the eye. This disease can lead to visual impairment and sometimes complete blindness in one or both eyes. FEVR is characterized by incomplete vascularization of the peripheral retina.
Rhodopsin, also known as visual purple, is a protein encoded by the RHO gene [5] and a G-protein-coupled receptor (GPCR). It is a light-sensitive receptor protein that triggers visual phototransduction in rods. Rhodopsin mediates dim light vision and thus is extremely sensitive to light. [6] When rhodopsin is exposed to light, it immediately ...
A number of genes in Drosophila, like the hook gene that alter ocular pigment granules have been shown to affect lysosomal delivery. [10] Moreover, it has been found that in normal conditions, melanosomal proteins traffic normally to late endosomes, while in the absence of OA1, they continue to accumulate in the mature melanosomes.