Related Experiment Video

Updated: May 9, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
06:15

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

An update on ocular involvement in mucopolysaccharidoses

Anuradha Ganesh1, Zandre Bruwer, Khalid Al-Thihli

  • 1Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman. aganesh@squ.edu.om

Current Opinion in Ophthalmology
|July 23, 2013
PubMed
Abstract

Insights

Early ocular manifestations in mucopolysaccharidoses (MPS) are key for diagnosis. Ophthalmologists are vital for early detection and monitoring, improving patient prognosis with new therapies.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
  • Ocular manifestations are common and can lead to significant visual impairment.

Purpose of the Study:

  • To update knowledge on ocular manifestations of MPS.
  • To highlight diagnostic challenges and review etiopathogenesis, systemic effects, and treatments.

Main Methods:

  • Review of current literature on MPS ocular findings.
  • Emphasis on diagnostic protocols and monitoring tools.

Main Results:

  • Advances in therapies (HSCT, ERT) improve lifespan and reduce morbidity.
  • Corneal opacification, retinal degeneration, and optic atrophy cause visual impairment.
  • Standard ophthalmic evaluation is crucial for diagnosis and monitoring.

Conclusions:

  • Diagnostic delays in MPS are frequent; early ocular signs are critical.
  • Ophthalmologists play a key role in early detection and management.
  • Improved therapies and supportive care enhance patient prognosis significantly.

More Related Videos

Iris Fixation via External Pentagram Suturing05:22

Iris Fixation via External Pentagram Suturing

Published on: May 5, 2022

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures04:48

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Published on: November 22, 2024

Related Concept Videos

Proteoglycans01:05

Proteoglycans

Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
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...
Glycosaminoglycans01:23

Glycosaminoglycans

Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are long and linear polymers comprising of specific repeating disaccharides - the amino sugar that can be N-acetylglucosamine or N-acetylgalactosamine, and a uronic acid that is usually glucuronic acid or iduronic acid.
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...