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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...
Glaucoma: Overview01:25

Glaucoma: Overview

Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
Angle Closure Glaucoma: Treatment01:28

Angle Closure Glaucoma: Treatment

Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
Open Angle Glaucoma: Treatment01:27

Open Angle Glaucoma: Treatment

In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...
Visual Agnosia01:12

Visual Agnosia

Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round end"...
Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...

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Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

Dominant optic atrophy.

Guy Lenaers1, Christian Hamel, Cécile Delettre

  • 1Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier I et II, BP 74103, F-34091 Montpellier cedex 05, France. guy.lenaers@inserm.fr

Orphanet Journal of Rare Diseases
|July 11, 2012
PubMed
Summary
This summary is machine-generated.

Dominant Optic Atrophy (DOA) is a genetic condition causing progressive vision loss due to optic nerve degeneration. While treatments are under investigation, current management focuses on supportive care and genetic counseling for affected families.

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Using Optical Coherence Tomography and Optokinetic Response As Structural and Functional Visual System Readouts in Mice and Rats
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Using Optical Coherence Tomography and Optokinetic Response As Structural and Functional Visual System Readouts in Mice and Rats

Published on: January 10, 2019

Area of Science:

  • Ophthalmology
  • Genetics
  • Neuroscience

Background:

  • Dominant Optic Atrophy (DOA) is a neuro-ophthalmic disorder characterized by bilateral optic nerve degeneration, leading to gradual vision loss.
  • Prevalence varies globally, with a higher incidence in Denmark due to a founder effect.

Purpose of the Study:

  • To describe the clinical presentation, genetic basis, diagnosis, and management of Dominant Optic Atrophy.
  • To inform healthcare professionals and patients about the multifaceted nature of DOA.

Main Methods:

  • Review of clinical descriptions, genetic findings, diagnostic criteria, and current management strategies for DOA.
  • Analysis of OPA1 and OPA3 gene mutations and their impact on mitochondrial function.

Main Results:

  • DOA primarily affects retinal ganglion cells, causing variable visual acuity loss, visual field deficits, and color vision defects.
  • Mutations in OPA1 (75% of cases) and OPA3 (1% of cases) are the main genetic causes, impacting mitochondrial function.
  • Extraocular manifestations occur in about 20% of patients, potentially worsening visual loss.

Conclusions:

  • Visual loss in DOA can progress, particularly in patients with extraocular features.
  • No cure currently exists, but low vision aids and genetic counseling are crucial.
  • Investigational gene and pharmacological therapies offer future treatment possibilities.