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Related Experiment Video

Updated: Jun 12, 2025

Subretinal Transplantation of Human Embryonic Stem Cell Derived-retinal Pigment Epithelial Cells into a Large-eyed Model of Geographic Atrophy

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Published on: January 22, 2018

Refractive Error in Inherited Retinal Disease.

Shaden H Yassin¹, Naomi E Wagner¹, Thomas Khuu²

¹From the Shiley Eye Institute (S.H.Y., N.E.W., E.W., S.B.), University of California, La Jolla, California.

American Journal of Ophthalmology

|September 20, 2024

Summary

This summary is machine-generated.

This study analyzed refractive errors in inherited retinal dystrophies (IRDs), finding specific genes linked to myopia and hyperopia. Understanding these genetic associations aids in managing IRD patients and their vision impairment.

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Published on: May 26, 2023

Area of Science:

Ophthalmology
Genetics
Molecular Biology

Background:

Inherited retinal dystrophies (IRDs) cause significant vision impairment.
Refractive errors (REs) can worsen vision impairment and increase risks of ocular comorbidities in IRD patients.
Identifying RE patterns in IRDs may improve patient management and reveal genetic links to RE.

Purpose of the Study:

To investigate refractive error patterns in patients with inherited retinal dystrophies.
To identify specific IRD genes associated with myopia and hyperopia.
To explore the relationship between IRD genotypes and refractive error phenotypes.

Main Methods:

Retrospective multicenter cohort study involving chart review.
Inclusion of clinically and molecularly confirmed IRD cases from three major academic centers.
Collection of data on patient demographics, disease phenotype, genotype, visual acuity, and refractive error.

Main Results:

Analysis of 634 patients (1255 eyes) with refractive data.
Specific genes like NYX and IMPG2 were strongly associated with high myopia.
Genes such as BEST1 and RS1 showed significant associations with hyperopia.
Overall, IRD patients exhibited significantly higher myopia compared to age-matched controls.

Conclusions:

Genetic testing combined with refraction data identified IRD genes linked to myopia and hyperopia.
The pattern of ametropia varies significantly by gene and even within gene cohorts.
Identified genes warrant further investigation into their functional roles in refractive error development.