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Development of refractive errors - what can we learn from inherited retinal dystrophies?

Am. J. Ophthalmol. 2017, vol. 182, issue

PURPOSE

It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive errors, a study investigating the affected cell type, causal gene and refractive error in IRDs may provide insight herein.

DESIGN

Case-control study.

METHODS

Study population: 302 patients with IRD from two ophthalmogenetic centers in the Netherlands. Reference population: population-based Rotterdam Study-III and ERF Study (N=5,550). Distributions and mean spherical equivalent (SE) were calculated for main affected cell type and causal gene; and risks of myopia and hyperopia were evaluated using logistic regression.

RESULTS

Bipolar cell related dystrophies were associated with the highest risk of SE high myopia 239.7; OR mild hyperopia 263.2, both P

CONCLUSIONS

Refractive errors, in particular myopia, are common in IRD. The bipolar synapse, and the inner and outer segments of the photoreceptor may serve as critical sites for myopia development.

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