Related Experiment Video

Updated: Sep 8, 2025

Using Optical Coherence Tomography and Optokinetic Response As Structural and Functional Visual System Readouts in Mice and Rats
07:08

Using Optical Coherence Tomography and Optokinetic Response As Structural and Functional Visual System Readouts in Mice and Rats

Published on: January 10, 2019

10.1K

Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B

Wenjia Yan1, Li Huang1, Limei Sun1

  • 1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510000, China.

American Journal of Ophthalmology Case Reports
|June 13, 2022
PubMed

Insights

Molybdenum cofactor deficiency (MoCD) is a rare genetic disorder. This case highlights novel ocular findings in a child with MoCD, emphasizing the importance of ophthalmic exams for early diagnosis.

Area of Science:

  • Genetics
  • Ophthalmology
  • Metabolic disorders

Background:

  • Molybdenum cofactor deficiency (MoCD) is a rare, often overlooked genetic disorder.
  • Early diagnosis is crucial for managing MoCD and its associated complications.

Observation:

  • A 6-year-old boy presented with conjunctival hyperemia and left eye pain.
  • He had a history of refractory seizures, global developmental delay, microcephaly, feeding difficulties, aphasia, and spastic quadriplegia.
  • Pathogenic MOCS2 mutations confirmed the diagnosis of MoCD.

Findings:

  • Detailed ocular manifestations of late-onset MoCD-B included bilateral ectopia lentis and spherophakia.
  • Left eye findings included hyperemia, secondary glaucoma, cyclodialysis, and retinal detachment.

Implications:

  • Ophthalmic examinations can reveal critical signs for the early diagnosis of MoCD.
  • This case expands the understanding of MoCD's ocular manifestations and its clinical spectrum.
Abstract

Keywords:
ERG, electroretinogramEctopia lentisFFA, fundus fluorescein angiographyMPT, molybdopterinMRI, magnetic resonance imagingMoCD, molybdenum cofactor deficiencyMolybdenum cofactor deficiencyRetinal detachmentSpherophakiaUBM, ultrasound biomicroscopycPMP, cyclic pyranopterin monophosphate

More Related Videos

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography07:44

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

Published on: July 24, 2020

3.0K
Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

3.6K

Related Concept Videos

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,...
6.5K
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...
665
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
239