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Inherited Retinal Disease

What effect does inherited retinal diseases have on axial length?

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Patients with blue cone monochromacy (BCM) had the highest increased odds for longer axial length whereas patients with the GPR143 gene had increased odds for shorter AL, according to a study that sought to add to the phenotype of inherited retinal diseases (IRDs).

The analysis also found that there were increased odds for longer and short eyes amongst patients with RPE65- and TYR-associated disease, while Albinism genes were associated with numerous effects on AL.

Increased odds for longer ALs were found in the following:

-BCM
-Bornholm eye disease
-RPGR
-RPE65
-OCA2
-TYR

Increased odds for short AL were found in the following

-RPE65
-TYR
-GPR143

The authors concluded that they hope this analysis “may yield insights into mechanisms of refractive error development.”

Reference
Williams KM, Georgiou M, Kalitzeos A, et al. Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases. Invest Ophthalmol Vis Sci. 2022;63(6):15. doi: 10.1167/iovs.63.6.15. PMID: 35704304; PMCID: PMC9206393.

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