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Michelle Hendriks, Virginie JM Verhoeven, Gabrielle HS Buitendijk, Jan Roelof Polling, Magda A Meester-Smoor, L Ingeborgh van den Born, Caroline C W Klaver; Development of refractive errors - what can we learn from retinal dystrophies?. Invest. Ophthalmol. Vis. Sci. 2014;55(13):843.
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Development of myopia is thought to be initiated by a retina-to-sclera signaling cascade. It is unknown which retinal cells are involved in this process. We aimed to get hints for the cells involved by studying refractive errors in Mendelian inherited retinal dystrophies.
Patients from outpatient clinics (Erasmus Medical Center, The Rotterdam Eye Hospital) with Mendelian inherited retinal dystrophies were included (N=302). Patients were categorized by primary affected cell type: retinal pigment epithelium-related macular (RPE) dystrophies (N=77), cone-related dystrophies (N=76), rod-related dystrophies (N=104) and bipolar cell dysfunctions (N=45) and subcategorized by diagnosis and causal genes. Clinical diagnosis was based on standard clinical measures, and refractive errors were determined using automated and subjective refraction. Refractive errors were analyzed as spherical equivalent (SE). Frequency distribution and the mean SE were compared among the groups. Logistic regression analyses was used to assess the risk of myopia (SE ≤ -0.75 D) versus non myopia (SE > 0.75 D) per primary affected cell type, adjusted for age and sex. Reference for all analyses were the population-based Rotterdam Study and ERF Study (N=5,550).
Subjects with bipolar cell dysfunctions (mean SE -6.86D) had the highest risk of myopia (OR 10.7; 95% CI 4.5-25.7); followed by cone-related dystrophies (mean SE -3.10D; OR 4.3; 95% CI 2.6-7.1) and rod-related dystrophies (mean SE -2.27D; OR 3.2; 95% CI 2.1-4.8). RPE dystrophies (mean SE -0.10D) did not have a significantly increased risk of myopia (OR 1.4; 95% CI 0.9-2.2)(Figure 1). Of all causal genes, the RPGR gene (N=6) and CACNA1F gene (N=8) presented the most myopic SE (mean SE -7.63D and SE -5.33D respectively).
Refractive errors in Mendelian inherited retinal dystrophies are common and mostly in myopic direction. With respect to primary affected cell type, dysfunction of bipolar cells had the most myopic refractive errors. With respect to causal genes, RPGR and CACNA1F were most significant. Our findings may help in unraveling the various steps in the signaling cascade causing myopia.
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