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Related Concept Videos

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...
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...
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...
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...
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
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...

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Caveolin-1 Protects Retinal Ganglion Cells against Acute Ocular Hypertension Injury via Modulating Microglial Phenotypes and Distribution and Activating AKT pathway.

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Related Experiment Video

Updated: Jun 11, 2026

Iris Fixation via External Pentagram Suturing
05:22

Iris Fixation via External Pentagram Suturing

Published on: May 5, 2022

CHARGE Syndrome Associated With Persistent Hyperplastic Primary Vitreous: A Case Report.

Li Liu1, Liyun Guo1, Zailin Xiao2

  • 1Yunnan Eye Institute & Key Laboratory of Yunnan Province, Yunnan Eye Disease Clinical Medical Center, Affiliated Hospital of Yunnan University, Yunnan, China, ypfph.com.

Case Reports in Ophthalmological Medicine
|June 10, 2026
PubMed
Summary

This study reports the first case of bilateral persistent fetal vasculature (PFV) in CHARGE syndrome, a rare genetic disorder. Early diagnosis and multidisciplinary care are crucial for managing this condition.

Keywords:
CHARGE syndromeCHD7 mutationcolobomacongenital cataractpersistent fetal vasculature

Related Experiment Videos

Last Updated: Jun 11, 2026

Iris Fixation via External Pentagram Suturing
05:22

Iris Fixation via External Pentagram Suturing

Published on: May 5, 2022

Area of Science:

  • Genetics
  • Ophthalmology
  • Pediatrics

Background:

  • CHARGE syndrome is a rare genetic disorder caused by CHD7 mutations, affecting multiple organs.
  • Ocular abnormalities are frequent in CHARGE syndrome, but bilateral persistent fetal vasculature (PFV) is a novel finding.
  • PFV occurs when fetal vasculature fails to regress, usually impacting a single eye.

Purpose of the Study:

  • To report the first case of bilateral PFV in a patient with CHARGE syndrome.
  • To highlight the expanded spectrum of ocular manifestations in CHARGE syndrome.
  • To emphasize the importance of early diagnosis and comprehensive care for CHARGE syndrome patients.

Main Methods:

  • Case report of a 10-month-old female diagnosed with CHARGE syndrome.
  • Genetic confirmation of a de novo CHD7 mutation.
  • Ophthalmological examination and systemic evaluation for associated defects.

Main Results:

  • The patient presented with bilateral PFV, sensorineural hearing loss, and congenital cardiac defects.
  • Genetic testing confirmed a de novo CHD7 mutation.
  • Postoperative improvement in esotropia was noted after cataract surgery and intraocular lens implantation in the left eye.

Conclusions:

  • This case is the first documented instance of bilateral PFV in CHARGE syndrome.
  • The findings expand the known ocular manifestations associated with CHARGE syndrome.
  • Early genetic diagnosis and multidisciplinary management are vital for optimizing outcomes in CHARGE syndrome.