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Vision

Vision

Vision is the result of light being detected and transduced into neural signals by the retina of the eye. This information is then further analyzed and interpreted by the brain. First, light enters the front of the eye and is focused by the cornea and lens onto the retina—a thin sheet of neural tissue lining the back of the eye. Because of refraction through the convex lens of the eye, images are projected onto the retina upside-down and reversed.

Color Vision

Color Vision

Color perception begins in the retina, the light-sensitive layer at the back of the eye. Two main theories explain how colors are seen: the trichromatic theory and the opponent-process theory. The trichromatic theory, proposed by Thomas Young in 1802 and extended by Hermann von Helmholtz in 1852, suggests that color vision is based on three types of cone receptors in the retina. These cones are sensitive to different but overlapping ranges of wavelengths corresponding to red, blue, and green.

Pigmentation

Pigmentation

The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...

Depth Perception and Spatial Vision

Depth Perception and Spatial Vision

Depth perception is the ability to perceive objects three-dimensionally. It relies on two types of cues: binocular and monocular. Binocular cues depend on the combination of images from both eyes and how the eyes work together. Since the eyes are in slightly different positions, each eye captures a slightly different image. This disparity between images, known as binocular disparity, helps the brain interpret depth. When the brain compares these images, it determines the distance to an object.

Control System Problem

Control System Problem

In an open-loop system, such as a basic thermostat, the poles of the transfer function influence the system's response but do not determine its stability. However, when feedback is introduced to form a closed-loop system, such as an advanced thermostat that adjusts heating based on room temperature, stability is governed by the new poles of the closed-loop transfer function.
When forming a closed-loop system, issues can arise if the poles cross into the unstable region, leading to potential...

Combinatorial Gene Control

Combinatorial Gene Control

Combinatorial gene control is the synergistic action of several transcriptional factors to regulate the expression of a single gene. The absence of one or more of these factors may lead to a significant difference in the level of gene expression or repression.
The expression of more than 30,000 genes is controlled by approximately 2000-3000 transcription factors. This is possible because a single transcription factor can recognize more than one regulatory sequence. The specificity in gene...

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Pigmentation and vision: Is GPR143 in control?

Brian S McKay¹

¹Department of Ophthalmology and Vision Science, University of Arizona, Tucson, Arizona.

Journal of Neuroscience Research

|May 16, 2018

Summary

Albinism causes vision deficits due to altered retinal development. This review explores how diverse genetic mutations in albinism may converge on a common pathway, impacting retinal development and potentially linking to age-related vision loss.

Keywords:

GPR143 OA1 albinism melanin pigment epithelial derived factor retinal pigment epithelium

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Area of Science:

Genetics
Ophthalmology
Developmental Biology

Background:

Albinism, characterized by reduced melanin, leads to visual impairments from neurosensory retina development changes.
Genetic mutations in diverse genes (enzymes, transporters, GPCRs) cause albinism, yet these genes aren't expressed in the retina.
All albinism types share similar retinal pathology, irrespective of the genetic cause.

Purpose of the Study:

To investigate the hypothesis that diverse albinism forms converge on a common final pathway affecting retinal development.
To review the incidence and mechanisms of seven forms of ocular cutaneous albinism.
To examine ocular albinism's tissue-specific pathology and explore potential therapeutic strategies.

Main Methods:

Literature review of genetic mutations, retinal pathology, and developmental changes in albinism.
Analysis of the commonalities in retinal phenotypes across different albinism types.
Exploration of potential therapeutic targets and connections to age-related vision loss.

Main Results:

Diverse genetic mutations in albinism may converge on a shared final pathway influencing retinal development.
Ocular cutaneous albinism involves mutations in seven genes, affecting pigmented tissues.
Ocular albinism presents a unique case of retinal pathology with near-normal melanin.

Conclusions:

A common pathway may explain the shared retinal phenotype in various albinism types.
Understanding this pathway could lead to treatments for albinism-related vision deficits.
The pathway might also be implicated in age-related vision loss, suggesting broader therapeutic potential.