June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Progression analysis of Stargardt (STGD) disease in children cohort with biallelic ABCA4
Author Affiliations & Notes
  • Tatiana Perepelkina
    Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States
    Ophthalmology, LSU Health Shreveport, Shreveport, Louisiana, United States
  • Evgenii Kegeles
    Moscow Institute of Physics and Technology, Russian Federation
  • Anton Naumov
    Moscow Institute of Physics and Technology, Russian Federation
  • Evgeniy Karpulevich
    Moscow Institute of Physics and Technology, Russian Federation
  • Pavel Volchkov
    Moscow Institute of Physics and Technology, Russian Federation
  • Anne B Fulton
    Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States
  • Footnotes
    Commercial Relationships   Tatiana Perepelkina None; Evgenii Kegeles None; Anton Naumov None; Evgeniy Karpulevich None; Pavel Volchkov None; Anne Fulton None
  • Footnotes
    Support  VitreoRetinal Surgery Foundation Research Award 2020
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 3750 – F0171. doi:
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      Tatiana Perepelkina, Evgenii Kegeles, Anton Naumov, Evgeniy Karpulevich, Pavel Volchkov, Anne B Fulton; Progression analysis of Stargardt (STGD) disease in children cohort with biallelic ABCA4. Invest. Ophthalmol. Vis. Sci. 2022;63(7):3750 – F0171.

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

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Abstract

Purpose : Stargardt disease is the most common inherited macular dystrophy caused by the ABCA4 gene’s mutations, with an estimated prevalence of 1/8000–1/10000. With its high phenotypic and genotypic heterogeneity, STGD typically causes severe progressive vision loss in children and young adults, incurring a substantial socioeconomic and psychological burden. The typical course of STGD exhibits progressive acuity loss during the school years, yet quantitative assessment of progression remains limited. Any information about natural progression of early disease is essential for anticipatory guidance, as well as for new therapy development.

Methods : We performed a longitudinal retrospective study on a patients’ cohort observed at Medical Retina Service, Boston Children’s Hospital. Our study group includes 33 children with genetically confirmed biallelic ABCA4 disease whose ages at presentation range from 3 to 18 yr, and age of symptoms onset falls within 7-10 yr range. Genetic variants in the younger group included many with double nulls mutations. We were primarily focusing on studying the STGD progression measuring retinal thicknesses on OCT. Every included patient had at least two longitudinal observations with OCT scan and visual acuity measurements. OCT scans were manually annotated to measure retinal thickness at the fovea, at 1mm and 3 mm away using Label Studio software. In total, 202 OCT images were used in the analysis. Further processing and statistical analysis were performed in Python using Pandas, Numpy, Scipy, and Sklearn packages.

Results : We observed two different modes of the disease progression in the observed patients: a drastic reduction in retinal thickness in the young age (before 8 yr) and changes with low magnitude in older kids. Reduction in ONL thickness for patients < 8 years old was: -38±5 um/yr at the fovea, -23±3 um/yr at 1mm nasal, and -20±3 um/yr at 1mm temporal retina. In older patients, the progression rate was strikingly lower: -1.3±0.6 um/yr at the fovea, 0.8±0.5 um/yr at 1mm nasal, and 0.3±0.5 um/yr at 1mm temporal retinas. Calculations were performed based on N=20 scans from six young patients and N=180 scans from 29 older kids.

Conclusions : Our findings are indicative of the rapid progression of the disease in patients before 8 years old. Studies on STGD progression and early intervention will require the observation of very young children.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

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