Related Experiment Video

Updated: Sep 25, 2026

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

Ophthalmic manifestations of congenital disorder of glycosylation type 1a

Hanne Jensen1, Susanne Kjaergaard, Flemming Klie

  • 1Department of Pediatric Ophthalmology and Handicap, Copenhagen County Hospital, Glostrup, Denmark. hanne.jensen@visaid.dk

Ophthalmic Genetics
|June 6, 2003
PubMed

Insights

Congenital disorder of glycosylation type Ia (CDG-Ia) patients with the R141H/F119L PMM2 genotype frequently develop myopia, congenital esotropia, and delayed visual maturation. Annual ophthalmologic follow-up is recommended.

Area of Science:

  • Ophthalmology
  • Genetics
  • Metabolic Disorders

Background:

  • Congenital disorder of glycosylation type Ia (CDG-Ia) is a rare genetic condition affecting protein modification.
  • The R141H/F119L PMM2 genotype is a common cause of CDG-Ia.
  • Ophthalmic manifestations in CDG-Ia patients are not well-documented.

Purpose of the Study:

  • To describe the ophthalmic findings in patients with CDG-Ia and the R141H/F119L PMM2 genotype.
  • To identify consistent ocular abnormalities associated with this specific genotype.

Main Methods:

  • Retrospective review of ophthalmic records from 23 CDG-Ia patients (10 months to 20 years).
  • Analysis of refractive error, visual acuity, ocular motility, optic disc appearance, and electroretinography (ERG) results.
  • Serial measurements were used to assess refractive error progression.

Main Results:

  • 18 patients were myopic, with an average progression of 0.80 D/year.
  • Congenital esotropia and delayed visual maturation (DVM) were common.
  • Reduced visual acuity was prevalent, with 5 patients legally blind; ERG showed reduced rod responses.

Conclusions:

  • Congenital esotropia, DVM, and reduced rod ERG responses are consistent ophthalmic findings in CDG-Ia patients with the R141H/F119L genotype.
  • Myopia development and progression are significant, suggesting a link to the underlying glycosylation defect.
  • Annual ophthalmologic examinations are crucial for managing these patients.
Abstract

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...
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...
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...
Type I Diabetes III: Clinical Manifestations01:19

Type I Diabetes III: Clinical Manifestations

Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...
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,...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes: