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Using Retinal Imaging to Study Dementia

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Published on: November 6, 2017

Imaging in inherited retinal disorders.

Ilkay Kilic Muftuoglu¹, Mayss Al-Sheikh², Sushma J³

¹Department of Ophthalmology, Istanbul Training and Research Hospital, Istanbul, Turkey.

European Journal of Ophthalmology

|February 2, 2021

Summary

This summary is machine-generated.

Inherited retinal diseases (IRDs) affect millions globally, causing vision loss. This review updates on IRDs, focusing on microstructural retinal changes and multimodal imaging for diagnosis and gene therapy selection.

Keywords:

OCT Retinal imaging SD-OCT inherited retinal disease inherited retinal disorders

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Area of Science:

Ophthalmology
Genetics
Medical Imaging

Background:

Inherited retinal diseases (IRDs) stem from mutations in over 260 genes, impacting over 2 million people worldwide.
These conditions often lead to severe vision loss in the working-age population, causing significant socioeconomic consequences.
Recent advancements in gene identification, cell biology, and retinal imaging have enhanced our understanding of IRD mechanisms.

Purpose of the Study:

To provide an updated review of inherited retinal diseases.
To highlight key microstructural changes occurring in the retina due to IRDs.
To summarize the utility of current multimodal imaging techniques in detecting retinal alterations.

Main Methods:

Literature review focusing on genetic and cell biology research in IRDs.
Analysis of current multimodal imaging techniques used in ophthalmology.
Correlation of imaging findings with known genetic mutations and disease progression.

Main Results:

IRDs are caused by a wide spectrum of genetic mutations affecting retinal structure and function.
Multimodal imaging reveals characteristic microstructural changes in the retina, aiding in diagnosis.
Ophthalmological examination combined with imaging is crucial for accurate diagnosis and patient selection for gene therapy.

Conclusions:

Accurate diagnosis of IRDs through clinical examination and advanced imaging is essential.
Understanding microstructural retinal changes aids in disease management and monitoring.
Multimodal imaging plays a vital role in identifying patients eligible for emerging gene therapies.