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Related Concept Videos

Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...
The Retina01:32

The Retina

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Anatomy of the Eyeball01:20

Anatomy of the Eyeball

The eye is a spherical, hollow structure composed of three tissue layers. The outer layer — the fibrous tunic, comprises the sclera — a white structure — and the cornea, which is transparent. The sclera encompasses some of the ocular surface, most of which is not visible. However, the 'white of the eye' is distinctively visible in humans compared to other species. The cornea, a clear covering at the front of the eye, enables light penetration. The eye's middle layer, the vascular tunic,...
Channel Rhodopsins01:11

Channel Rhodopsins

Most organisms use photoreceptors to sense and respond to light. Examples of photoreceptors include bacteriorhodopsins and bacteriophytochromes in some bacteria, phytochromes in plants, and rhodopsins in the photoreceptor cells of the vertebral retina. The light-sensitive property of these receptors is because of the bound chromophores, such as bilin in the phytochromes and retinal in the rhodopsins.
Rhodopsins belong to the family of cell surface proteins called G-protein coupled receptors,...

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Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
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Enhanced S-cone function with preserved rod function: a new clinical phenotype.

Michael Kinori1, Eran Pras, Andrew Kolker

  • 1Department of Ophthalmology, The Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel.

Molecular Vision
|September 8, 2011
PubMed
Summary
This summary is machine-generated.

This study identifies a novel familial retinal disease in two brothers with enhanced S-cone function and normal rod function, distinct from enhanced S-cone syndrome. Genetic analysis of candidate genes did not reveal the cause.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Familial retinal diseases can present with diverse phenotypes.
  • Enhanced S-cone syndrome (ESCS) is characterized by S-cone dysfunction and severe rod dysfunction.

Observation:

  • Two brothers presented with a novel retinal disease.
  • Ophthalmologic examinations revealed enhanced S-cone function with normal rod function.
  • Optical coherence tomography showed macular curvature flattening and photoreceptor thinning.

Findings:

  • Spectral photopic electroretinography (ERG) confirmed enhanced S-cone function.
  • Scotopic ERG responses for both rod a-wave and b-wave were within normal or lower limits.
  • Mutation analysis of NR2E3, NRL, NR1D1, and THRB genes was negative.

Implications:

  • This previously unidentified retinal phenotype expands the spectrum of inherited retinal diseases.
  • The findings suggest a potential novel gene mutation affecting photoreceptor development.
  • Further research is needed to identify the genetic basis of this distinct retinal disorder.