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Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

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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,...
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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...
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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.
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Light rays enter the eye through the cornea, a transparent dome-shaped tissue that is the eye's outermost layer. The cornea bends or refracts, light rays traveling to the pupil. The shape of the cornea determines how much of the light is bent and whether the image will be focused correctly on the retina at the back of the eye. Once the light has passed through both refraction layers, it converges into a single focal point onto a small area. This is where photoreceptors start transforming...
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Author Spotlight: Assessment of Visual Acuity in Central Vision Loss Through Motion-Based Peripheral Vision Testing
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Achromatopsia: a review.

Meredith H Remmer1, Neelesh Rastogi, Milan P Ranka

  • 1Pediatric Ophthalmic Consultants and New York University Langone Medical Center, New York, New York, USA.

Current Opinion in Ophthalmology
|July 22, 2015
PubMed
Summary
This summary is machine-generated.

Gene therapy shows promise for treating achromatopsia, a rare inherited eye disease. Advances in adeno-associated virus (AAV) vectors and animal models are paving the way for human clinical trials.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Achromatopsia is a rare inherited retinal disorder characterized by reduced visual acuity, photophobia, and color blindness.
  • Genetic mutations in CNGB3, CNGA3, and GNAT2 are common causes of achromatopsia.

Purpose of the Study:

  • To review the current literature on achromatopsia, including its clinical presentation, genetic basis, and therapeutic strategies.
  • To highlight recent advancements in gene therapy for achromatopsia in preclinical models and discuss challenges for clinical translation.

Main Methods:

  • Review of published literature on achromatopsia.
  • Analysis of gene therapy approaches using adeno-associated virus (AAV) vectors in animal models.
  • Examination of ongoing clinical trials for achromatopsia.

Main Results:

  • Successful gene therapy in mouse models with CNGB3, CNGA3, or GNAT2 mutations using cone-specific promoters.
  • Development of new animal models, including a CNGA3 sheep model.
  • Two clinical trials are underway: one for disease characterization and another for a ciliary neurotrophic factor (CNTF) implant for CNGB3-associated achromatopsia.

Conclusions:

  • Gene therapy tools and animal models for achromatopsia are rapidly advancing.
  • The genetic understanding and clinical characterization of achromatopsia are continuously evolving.
  • Gene therapy holds significant promise for the future treatment of achromatopsia in humans.