The Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18)

Rupert Wolfgang Strauss; Lang Lang; Alexander Ho; Anamika Jha; Michael Ip; Paul S Bernstein; David G Birch; Artur V Cideciyan; Michel Michaelides; Isabelle Audo; Janet S Sunness; Elias I Traboulsi; Eberhart Zrenner; SriniVas R Sadda; Lucas Janeschitz-Kriegl; Sheila West; Xiangrong Kong; Hendrik P N Scholl; ProgStar Study Group

doi:10.1159/000540028

The Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18)

Ophthalmic Res. 2024;67(1):435-447. doi: 10.1159/000540028. Epub 2024 Jul 18.

Authors

Rupert Wolfgang Strauss^{1

2

3

4}, Lang Lang⁵, Alexander Ho⁶, Anamika Jha⁶, Michael Ip⁶, Paul S Bernstein⁷, David G Birch⁸, Artur V Cideciyan⁹, Michel Michaelides¹⁰, Isabelle Audo¹¹, Janet S Sunness¹², Elias I Traboulsi¹³, Eberhart Zrenner¹⁴, SriniVas R Sadda⁶, Lucas Janeschitz-Kriegl^{15

16}, Sheila West¹⁷, Xiangrong Kong¹⁷, Hendrik P N Scholl^{15

16}; ProgStar Study Group

Affiliations

¹ Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland, USA, [email protected].
² Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, University College London, London, UK, [email protected].
³ Department of Ophthalmology, Medical University Graz, Graz, Austria, [email protected].
⁴ Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland, [email protected].
⁵ Department of Applied Mathematics and Statistics, Johns Hopkins University, Baltimore, Maryland, USA.
⁶ Doheny Eye Institute, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California, USA.
⁷ Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah, USA.
⁸ Retina Foundation of the Southwest, Dallas, Texas, USA.
⁹ Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
¹⁰ Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, University College London, London, UK.
¹¹ Sorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS), Institut de la Vision, Centre Hospitalier National d'Ophtalmologie (CHNO) des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC, IHU FOReSIGHT, Paris, France.
¹² Hoover Low Vision Rehabilitation Services, Greater Baltimore Medical Center and University of Maryland School of Medicine, Baltimore, Maryland, USA.
¹³ Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
¹⁴ Center for Ophthalmology, Eberhard-Karls University Hospital, Tübingen, Germany.
¹⁵ Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
¹⁶ Department of Ophthalmology, University of Basel, Basel, Switzerland.
¹⁷ Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland, USA.

PMID: 39004077
DOI: 10.1159/000540028

Abstract

Introduction: The aim of this study was to evaluate the progression of atrophy as determined by spectral-domain optical coherence tomography (SD-OCT) in patients with molecularly confirmed ABCA4-associated Stargardt disease type 1 (STGD1) over a 24-month period in a multicenter prospective cohort study.

Methods: SD-OCT images from 428 eyes of 236 patients were analyzed. Change of mean thickness (MT) and intact area were estimated after semiautomated segmentation for the following individual layers in the central subfield (CS), inner ring (IR), and outer ring (OR) of the ETDRS grid: retinal pigment epithelium (RPE), outer segments (OSs), inner segments (IS), outer nuclear layer (ONL) inner retina (IR), and total retina.

Results: Statistically significant decreases of all outer retinal layers (RPE, OS, IS, and ONL) could be observed over a 24-month period both in decline of mean retinal thickness and intact area (p < 0.0001, respectively), whereas the IR showed an increase of retinal thickness in the CS and IR and remained unchanged in the OR.

Conclusions: Significant loss could be detected in outer retinal layers by SD-OCT over a 24-month period in patients with STGD1. Loss of thickness and/or intact area of such layers may serve as potential endpoints for clinical trials that aim to slow down the disease progression of STGD1.

Keywords: Natural history; Optical coherence tomography; Outcome measure; Stargardt disease type 1.

Publication types

Multicenter Study

MeSH terms

Adolescent
Adult
Child
Disease Progression*
Female
Follow-Up Studies
Humans
Macular Degeneration* / congenital
Macular Degeneration* / diagnosis
Male
Middle Aged
Prospective Studies
Retina / diagnostic imaging
Retina / pathology
Retinal Pigment Epithelium* / diagnostic imaging
Retinal Pigment Epithelium* / pathology
Stargardt Disease* / diagnosis
Tomography, Optical Coherence* / methods
Visual Acuity*
Young Adult