Investigative Ophthalmology & Visual Science Cover Image for Volume 64, Issue 8
June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Lens opacity in patients with ABCA4-associated Stargardt Disease (STGD1)
Author Affiliations & Notes
  • Bai Xi Jasmine Chan
    Johns Hopkins University, Baltimore, Maryland, United States
  • Ann Margret Ervin
    Johns Hopkins University, Baltimore, Maryland, United States
  • Hendrik P Scholl
    Universitat Basel, Basel, Basel-Stadt, Switzerland
  • Rupert Strauss
    Karl-Franzens-Universitat Graz, Graz, Steiermark, Austria
  • Sheila K West
    Johns Hopkins University, Baltimore, Maryland, United States
  • Xiangrong Kong
    Johns Hopkins University, Baltimore, Maryland, United States
  • Footnotes
    Commercial Relationships   Bai Xi Jasmine Chan None; Ann Margret Ervin None; Hendrik Scholl Gerson Lehrman Group, Guidepoint Global LLC, Tenpoint Therapeutics Limited, Code C (Consultant/Contractor), Swiss National Science Foundation, Wellcome Trust, Foundation Fighting Blindness Clinical Research Institute, University of Basel, University Hospital Basel, Novartis, government of Basel-Stadt, Code F (Financial Support), Astellas Pharma Global Development Inc (Astellas Institute for Regenerative Medicine), Boehringer Ingelheim Pharma GmbH & Co,Gyroscope Therapeutics Ltd. , Janssen Research & Development, LLC (Johnson & Johnson), Novartis Pharma AG (CORE), Okuvision GmbH, Third Rock Ventures LLC, Belite Bio, ReNeuron Group Plc (Ora Inc), F. Hoffmann-La Roche Ltd, Novo Nordisk, Code S (non-remunerative); Rupert Strauss None; Sheila West None; Xiangrong Kong None
  • Footnotes
    Support  NEI R21EY032955
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 1198. doi:
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      Bai Xi Jasmine Chan, Ann Margret Ervin, Hendrik P Scholl, Rupert Strauss, Sheila K West, Xiangrong Kong; Lens opacity in patients with ABCA4-associated Stargardt Disease (STGD1). Invest. Ophthalmol. Vis. Sci. 2023;64(8):1198.

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

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Abstract

Purpose : Data on anterior complications are lacking for STGD1. This study assessed prevalence and incidence of lens opacity (LO) and associated risk factors.

Methods : Data of the Progression of Atrophy secondary to Stargardt Disease (ProgStar) study were used. Molecularly confirmed STGD1 patients aged ≥6 years were enrolled from the US and Europe during 2013-15 and followed for 2 years. Trained investigators graded lens status using the AREDS clinical lens grading system during slit lamp. Baseline LO prevalence and 2-year incidence, demographics and behavioral factors were analyzed. Logistic regressions with generalized estimating equation were used to identify risk factors for eye level baseline prevalence and 2-year incidence.

Results : Of the 259 ProgStar patients (489 eyes) at baseline, median age: 31 (IQR 21-44) years; median age of STGD1 symptom onset: 19 years; 54% women; 86% Caucasian and 7.7% African descendent (AD); 15% patients (14% [N=69] eyes) had LO. Distribution of LO types is in Fig 1. Age and age of symptom onset were significantly associated with LO prevalence: adjusted OR (adjOR) for every 10 years older in age = 4.8 (95%CI: 2.8-7.9), adjOR associated with 10 years later in symptom onset was 0.39 (95%CI 0.6-0.9). Compared to Caucasians, AD had significantly higher prevalence, adjOR=11.1 (95%CI:2.7-45.2). Gender, vitamin A use and smoking was not associated with prevalence.
Of the 362 cataract-free eyes at baseline, 7% (24 eyes) developed LO at 2-years and nuclear LO was most common (Fig.2). Older age was significantly associated with incidence: adjOR for 10 years older in age=3.7 (95%CI 2.0-7.3).

Conclusions : In STGD1, as in the general population, nuclear type was the most common LO and older age was a risk factor; however, LO prevalence seemed higher compared to age-matched prevalences reported for the general population in US and Europe. Later symptom onset was associated with lower LO prevalence. Oxidative stress and inflammation are known to be present in inherited retinal diseases (IRDs). Thus, in addition to age related LO formation, in STGD1, mechanisms such as oxidative stress and inflammation due to retina degeneration may accelerate lens opacification. Increased risk of LO is well known in retinitis pigmentosa. Clinical trials for IRDs involving imaging or functional testing endpoints should consider potential confounding of LO progression on image quality or test performance.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

 

 

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