Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

Michelle Hendriks; Virginie J M Verhoeven; Gabriëlle H.S. Buitendijk; Jan Roelof Polling; Magda A. Meester-Smoor; Albert Hofman; Ramon A C van Huet; B Jeroen Klevering; Nathalie M. Bax; Stanley Lambertus; Caroline C W Klaver; Carel B. Hoyng; Clasien J Oomen; Wendy A. G. van Zelst-Stams; Frans Pm Cremers; Astrid S Plomp; Mary J. van Schooneveld; Mies M. van Genderen; José Schuil; F Nienke Boonstra; Reinier O Schlingemann; Arthur A. Bergen; Laurence Pierrache; Magda Meester-Smoor; L Ingeborgh van den Born; Camiel J.F. Boon; Jan W.R. Pott; Redmer van Leeuwen; Hester Y. Kroes; Yvonne de Jong-Hesse; Maarten Kamermans; L. Ingeborgh van den Born; Caroline C W Klaver

doi:10.1016/j.ajo.2017.07.008

Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

Michelle Hendriks, Virginie J M Verhoeven, Gabriëlle H.S. Buitendijk, Jan Roelof Polling, Magda A. Meester-Smoor, Albert Hofman, Ramon A C van Huet, B Jeroen Klevering, Nathalie M. Bax, Stanley Lambertus, Caroline C W Klaver, Carel B. Hoyng, Clasien J Oomen, Wendy A. G. van Zelst-Stams, Frans Pm Cremers, Astrid S Plomp, Mary J. van Schooneveld, Mies M. van Genderen, José Schuil, F Nienke BoonstraReinier O Schlingemann, Arthur A. Bergen, Laurence Pierrache, Magda Meester-Smoor, L Ingeborgh van den Born, Camiel J.F. Boon, Jan W.R. Pott, Redmer van Leeuwen, Hester Y. Kroes, Yvonne de Jong-Hesse, Maarten Kamermans, L. Ingeborgh van den Born, Caroline C W Klaver,

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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: Total of 302 patients with IRD from 2 ophthalmogenetic centers in the Netherlands. REFERENCE POPULATION: Population-based Rotterdam Study-III and Erasmus Rucphen Family Study (N = 5550). 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; odds ratio (OR) mild hyperopia 263.2, both P <.0001; SE −6.86 diopters (D) (standard deviation [SD] 6.38), followed by cone-dominated dystrophies (OR high myopia 19.5, P <.0001; OR high hyperopia 10.7, P =.033; SE −3.10 D [SD 4.49]); rod dominated dystrophies (OR high myopia 10.1, P <.0001; OR high hyperopia 9.7, P =.001; SE −2.27 D [SD 4.65]), and retinal pigment epithelium (RPE)-related dystrophies (OR low myopia 2.7; P =.001; OR high hyperopia 5.8; P =.025; SE −0.10 D [SD 3.09]). Mutations in RPGR (SE −7.63 D [SD 3.31]) and CACNA1F (SE −5.33 D [SD 3.10]) coincided with the highest degree of myopia and in CABP4 (SE 4.81 D [SD 0.35]) with the highest degree of hyperopia. 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.

Original language	English
Pages (from-to)	81-89
Number of pages	9
Journal	American Journal of Ophthalmology
Volume	182
DOIs	https://doi.org/10.1016/j.ajo.2017.07.008
Publication status	Published - 1 Oct 2017

Access to Document

10.1016/j.ajo.2017.07.008

Cite this

Hendriks, M., Verhoeven, V. J. M., Buitendijk, G. H. S., Polling, J. R., Meester-Smoor, M. A., Hofman, A., van Huet, R. A. C., Klevering, B. J., Bax, N. M., Lambertus, S., Klaver, C. C. W., Hoyng, C. B., Oomen, C. J., van Zelst-Stams, W. A. G., Cremers, F. P., Plomp, A. S., van Schooneveld, M. J., van Genderen, M. M., Schuil, J. (2017). Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies? American Journal of Ophthalmology, 182, 81-89. https://doi.org/10.1016/j.ajo.2017.07.008

@article{4adf24f06a954311a1f128e33865a406,

title = "Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?",

abstract = "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: Total of 302 patients with IRD from 2 ophthalmogenetic centers in the Netherlands. REFERENCE POPULATION: Population-based Rotterdam Study-III and Erasmus Rucphen Family Study (N = 5550). 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; odds ratio (OR) mild hyperopia 263.2, both P <.0001; SE −6.86 diopters (D) (standard deviation [SD] 6.38), followed by cone-dominated dystrophies (OR high myopia 19.5, P <.0001; OR high hyperopia 10.7, P =.033; SE −3.10 D [SD 4.49]); rod dominated dystrophies (OR high myopia 10.1, P <.0001; OR high hyperopia 9.7, P =.001; SE −2.27 D [SD 4.65]), and retinal pigment epithelium (RPE)-related dystrophies (OR low myopia 2.7; P =.001; OR high hyperopia 5.8; P =.025; SE −0.10 D [SD 3.09]). Mutations in RPGR (SE −7.63 D [SD 3.31]) and CACNA1F (SE −5.33 D [SD 3.10]) coincided with the highest degree of myopia and in CABP4 (SE 4.81 D [SD 0.35]) with the highest degree of hyperopia. 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.",

author = "Michelle Hendriks and Verhoeven, {Virginie J M} and Buitendijk, {Gabri{\"e}lle H.S.} and Polling, {Jan Roelof} and Meester-Smoor, {Magda A.} and Albert Hofman and {van Huet}, {Ramon A C} and Klevering, {B Jeroen} and Bax, {Nathalie M.} and Stanley Lambertus and Klaver, {Caroline C W} and Hoyng, {Carel B.} and Oomen, {Clasien J} and {van Zelst-Stams}, {Wendy A. G.} and Cremers, {Frans Pm} and Plomp, {Astrid S} and {van Schooneveld}, {Mary J.} and {van Genderen}, {Mies M.} and Jos{\'e} Schuil and Boonstra, {F Nienke} and Schlingemann, {Reinier O} and Bergen, {Arthur A.} and Laurence Pierrache and Magda Meester-Smoor and {van den Born}, {L Ingeborgh} and Boon, {Camiel J.F.} and Pott, {Jan W.R.} and {van Leeuwen}, Redmer and Kroes, {Hester Y.} and {de Jong-Hesse}, Yvonne and Maarten Kamermans and {Ingeborgh van den Born}, L. and Klaver, {Caroline C W}",

year = "2017",

month = oct,

day = "1",

doi = "10.1016/j.ajo.2017.07.008",

language = "English",

volume = "182",

pages = "81--89",

journal = "American Journal of Ophthalmology",

issn = "0002-9394",

publisher = "Elsevier USA",

}

Hendriks, M, Verhoeven, VJM, Buitendijk, GHS, Polling, JR, Meester-Smoor, MA, Hofman, A, van Huet, RAC, Klevering, BJ, Bax, NM, Lambertus, S, Klaver, CCW, Hoyng, CB, Oomen, CJ, van Zelst-Stams, WAG, Cremers, FP, Plomp, AS, van Schooneveld, MJ, van Genderen, MM, Schuil, J, Boonstra, FN, Schlingemann, RO, Bergen, AA, Pierrache, L, Meester-Smoor, M, van den Born, LI, Boon, CJF, Pott, JWR, van Leeuwen, R, Kroes, HY, de Jong-Hesse, Y, Kamermans, M, Ingeborgh van den Born, L, Klaver, CCW 2017, 'Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?', American Journal of Ophthalmology, vol. 182, pp. 81-89. https://doi.org/10.1016/j.ajo.2017.07.008