Related Experiment Video
Updated: Oct 23, 2025
10:14
Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
Published on: May 26, 2023
3.8K
Wolfram syndrome with vitelliform retinal deposits
Sina J Sabet1, Andrew R Carey1
1Neuro-Ophthalmology Division, Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Ophthalmic Genetics
|August 24, 2021
Summary
This case report details Wolfram Syndrome (WS) with a rare presentation of vitelliform retinal changes alongside optic atrophy. This finding may offer new insights into the molecular links between WS and retinal disorders.
Area of Science:
- Ophthalmology
- Genetics
- Rare Diseases
Background:
- Wolfram Syndrome (WS) is a rare autosomal recessive genetic disorder.
- Classic features include diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD).
- Ocular and systemic manifestations can vary, with novel presentations emerging.
Observation:
- A case report of a patient with Wolfram Syndrome.
- Ophthalmologic examination revealed bilateral optic neuropathy.
- Imaging identified scattered bilateral subretinal vitelliform deposits.
Findings:
- Genetic testing confirmed Wolfram Syndrome.
- The patient presented with optic atrophy and vitelliform retinal changes.
- This association has not been previously reported in the literature.
Implications:
- This previously unreported association may illuminate shared molecular pathophysiology.
- It suggests potential links between Wolfram Syndrome and retinal disorders with vitelliform changes.
- Further research could explore these connections for diagnostic or therapeutic advancements.
Related Concept Videos
01:11Fibril-associated Collagen
2.8K
Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
2.8K
01:33Pleiotropy
41.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.7K
01:27Disorders of Erythrocytes
1.4K
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
1.4K
01:22Photoreceptors and Visual Pathways
6.9K
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,...
6.9K