Related Experiment Video
Updated: Feb 7, 2026
07:22
Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
Published on: March 11, 2016
11.9K
RETINAL DYSTROPHY IN A PATIENT WITH McARDLE DISEASE
Joseph B Alsberge1, Judy J Chen1, Ali A Zaidi2
1West Coast Retina Medical Group/California Pacific Medical Center, San Francisco, California; and.
Retinal Cases & Brief Reports
|August 4, 2018
Summary
This case report details pattern dystrophy in a patient with McArdle disease, a rare glycogen metabolism disorder. This finding is uncommon, with only three such cases documented.
Area of Science:
- Ophthalmology
- Genetics
- Metabolic Disorders
Background:
- McArdle disease is a rare autosomal recessive glycogen storage disorder affecting muscle.
- Pattern dystrophy is a group of inherited retinal diseases characterized by specific pigment deposits.
Observation:
- A 29-year-old woman with biopsy-confirmed McArdle disease presented with ocular findings.
- Fundus examination revealed changes consistent with pattern dystrophy.
Findings:
- Multimodal imaging, including optical coherence tomography and fundus autofluorescence, was utilized.
- The patient exhibited characteristic features of pattern dystrophy in conjunction with McArdle disease.
Implications:
- This case contributes to the limited understanding of the association between McArdle disease and pattern dystrophy.
- Further research may elucidate potential sharedPathways or genetic links between these conditions.
More Related Videos
11:20Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases
Published on: June 14, 2021
4.4K
09:11Generation of Induced Pluripotent Stem Cells from Muscular Dystrophy Patients: Efficient Integration-free Reprogramming of Urine Derived Cells
Published on: January 28, 2015
11.7K
Related Concept Videos
01:21Satellite Stem Cells and Muscular Dystrophy
2.4K
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.4K
01:30Inflammatory Bowel Disease II: Crohn's Disease
1.1K
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
1.1K
01:13Patient-centered Care
3.1K
Patient-centered care involves delivering care beyond inpatient hospitalization. Reflective practice can enhance a patient-centered approach. Reflective practice is a process of reasoning that considers all aspects of the present situation, including practicalities, learning from personal practice, and consideration of patient needs. Patients appreciate care decisions made while considering their input. Involving the patient in their care provides the patient with a sense of contribution rather...
3.1K
01:25Immunodeficiency Diseases
2.4K
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
There are three main causes of immunodeficiency...
2.4K
01:15Drug Dosing: Geriatric Patients
278
Elderly individuals encompass a diverse population with varying degrees of age-related physiological changes. Defining the elderly presents challenges, as the geriatric population is often arbitrarily categorized as individuals older than 65. However, many individuals in this group lead active and healthy lives, with an increasing number surpassing 85 years and falling into the older elderly category. Physiological changes associated with aging impact performance capacity and homeostatic...
278
01:24Parkinson's Disease: Treatment
1.2K
Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
1.2K