April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Development of refractive errors - what can we learn from retinal dystrophies?
Author Affiliations & Notes
  • Michelle Hendriks
    Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
  • Virginie JM Verhoeven
    Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
    Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
  • Gabrielle HS Buitendijk
    Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
    Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
  • Jan Roelof Polling
    Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
  • Magda A Meester-Smoor
    Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
  • L Ingeborgh van den Born
    The Rotterdam Eye Hospital, Rotterdam, Netherlands
  • Caroline C W Klaver
    Ophthalmology, Erasmus Medical Center, Rotterdam, Netherlands
    Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
  • Footnotes
    Commercial Relationships Michelle Hendriks, None; Virginie Verhoeven, None; Gabrielle Buitendijk, None; Jan Roelof Polling, None; Magda Meester-Smoor, None; L van den Born, None; Caroline Klaver, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 843. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      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.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract
 
Purpose
 

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.

 
Methods
 

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).

 
Results
 

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).

 
Conclusions
 

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.

 
 
Figure 1. Risk of myopia for primary affected cell type versus reference group, adjusted for age and sex (OR = Odds Ratio; CI = Confidence Interval)
 
Figure 1. Risk of myopia for primary affected cell type versus reference group, adjusted for age and sex (OR = Odds Ratio; CI = Confidence Interval)
 
Keywords: 605 myopia • 696 retinal degenerations: hereditary  
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×