Related Experiment Video

Updated: May 23, 2026

Grossing of Non-neoplastic Globes, Including Fetal Eyes
05:15

Grossing of Non-neoplastic Globes, Including Fetal Eyes

Published on: May 30, 2025

Infantile bilateral glaucoma in a child with ectodermal dysplasia

Michele Callea1, Agatino Vinciguerra, Colin E Willoughby

  • 1Maxillo-Facial Surgery and Dentistry, Institute for Maternal and Child Health at IRCCS Burlo Garofolo, Trieste, Italy. mcallea@gmail.com

Ophthalmic Genetics
|March 21, 2012
PubMed

Insights

X-linked hypohidrotic ectodermal dysplasia (XHED) is a rare genetic disorder. This study reports a child with XHED who developed infantile bilateral glaucoma, a previously undocumented ocular complication.

Area of Science:

  • Genetics
  • Ophthalmology
  • Dermatology

Background:

  • Ectodermal dysplasia encompasses over 200 conditions affecting ectodermal derivatives.
  • X-linked hypohidrotic ectodermal dysplasia (XHED) is the most prevalent form, characterized by hypotrichosis, hypohidrosis, and hypodontia.
  • Ocular manifestations in XHED typically include dry eyes due to meibomian gland dysfunction.

Observation:

  • A pediatric case of XHED with confirmed molecular diagnosis is presented.
  • The patient exhibited classical XHED features.
  • Notably, the child also presented with infantile bilateral glaucoma.

Findings:

  • This report details a novel association between XHED and infantile bilateral glaucoma.
  • The findings expand the spectrum of ocular complications associated with XHED.
  • Molecular confirmation of XHED provides a definitive diagnosis.

Implications:

  • This case highlights the importance of comprehensive ophthalmological evaluation in children with XHED.
  • Understanding the link between XHED and glaucoma may lead to earlier diagnosis and intervention.
  • Further research is warranted to elucidate the underlying mechanisms connecting XHED and glaucoma.

More Related Videos

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

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...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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...
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...