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Related Concept Videos

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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...
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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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Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
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The kidneys are vital organs responsible for filtering and cleaning blood, removing waste products, and regulating electrolyte levels. To perform these essential functions, they require a constant and robust blood supply.
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Optical perception, or vision, is an extraordinary sense dependent on converting light signals received via the ocular organs. These organs, known as eyes, are securely positioned within the bony cavities of the skull, called orbits. The orbits serve a dual purpose: a protective shield for the ocular globes and a stable attachment point for the soft ocular tissues. The eye's external protective mechanisms include the eyelids, which are edged with lashes that act as a barrier against foreign...
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The kidneys are a pair of bean-shaped organs in the human body that play a critical role in maintaining overall health. They filter out waste products from the blood, regulate blood pressure, maintain electrolyte balance, and stimulate the production of red blood cells.
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Related Experiment Video

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A Highly Reproducible and Straightforward Method to Perform In Vivo Ocular Enucleation in the Mouse after Eye Opening
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A 44-year-old man with eye, kidney, and brain dysfunction.

Ivana Vodopivec1,2, Derek H Oakley1,3, Cory A Perugino1,4

  • 1Harvard Medical School, Boston, MA.

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|December 23, 2015
PubMed
Summary

Retinal vasculopathy with cerebral leukodystrophy (RVCL), a rare genetic disorder, can present with multisystemic symptoms. This case highlights a novel TREX1 mutation and emphasizes considering RVCL in patients with specific retinal and neurological findings.

Area of Science:

  • Genetics and Neurology
  • Ophthalmology
  • Rare Diseases

Background:

  • Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant disorder.

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  • It is caused by mutations in the TREX1 (3-prime repair exonuclease-1) gene.
  • RVCL presents with a spectrum of symptoms including retinopathy, cerebral infarction, and organ damage.