June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Visual field and Visual Acuity changes in the Natural History of Choroideremia
Author Affiliations & Notes
  • Emily Liu
    Spark Therapeutics Inc, Philadelphia, Pennsylvania, United States
  • Joshua Boyer
    Spark Therapeutics Inc, Philadelphia, Pennsylvania, United States
  • Rachel M. Huckfeldt
    Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, United States
  • Elise Heon
    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada
    Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada
  • Paul F Kenna
    Research Foundation, Royal Victoria Eye and Ear Hospital, Dublin, Ireland
    Ocular Genetics Unit, The University of Dublin Trinity College, Dublin, Ireland
  • Isabelle Audo
    Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, Île-de-France, France
  • Ruifang Sui
    Department of Ophthalmology, Peking Union Medical College Hospital, Dongcheng-qu, Beijing, China
  • Elias I Traboulsi
    Ophthalmology, Cleveland Clinic, Cleveland, Ohio, United States
  • Paul S Bernstein
    Ophthalmology and Visual Sciences, Clincal and Basic Science Research, Moran Eye Center, The University of Utah School of Medicine, Salt Lake City, Utah, United States
  • Tim Stout
    Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, United States
  • Kathy Reape
    Spark Therapeutics, Inc. (Formerly), Pennsylvania, United States
  • Daniel C Chung
    Spark Therapeutics Inc, Philadelphia, Pennsylvania, United States
  • Footnotes
    Commercial Relationships   Emily Liu, Spark Therapeutics (E); Joshua Boyer, Spark Therapeutics (E); Rachel Huckfeldt, None; Elise Heon, Brendan Eye Research Fund (F), Deep Genomics (S), Fighting Blindness Canada (F), Janssen (C), Novartis (C), Novartis (R); Paul Kenna, Spark Therapeutics (former relationship) (C), Spark Therapeutics (former relationship) (I); Isabelle Audo, None; Ruifang Sui, None; Elias Traboulsi, None; Paul Bernstein, None; Tim Stout, None; Kathy Reape, Spark Therapeutics (former relationship) (E); Daniel Chung, Spark Therapeutics (E), Spark Therapeutics (I)
  • Footnotes
    Support  This study was sponsored by Spark Therapeutics, Inc.
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 3506. doi:
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      Emily Liu, Joshua Boyer, Rachel M. Huckfeldt, Elise Heon, Paul F Kenna, Isabelle Audo, Ruifang Sui, Elias I Traboulsi, Paul S Bernstein, Tim Stout, Kathy Reape, Daniel C Chung; Visual field and Visual Acuity changes in the Natural History of Choroideremia. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3506.

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

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Purpose : To evaluate the natural history of visual acuity (VA) and visual field (VF) sensitivity in choroideremia (CHM). Choroideremia (CHM) is an X-linked degenerative retinal disease caused by deletions or mutations in the CHM gene which impacts the Rab escort protein-1 (REP-1). Study of the natural history of CHM may inform future therapeutic approaches.

Methods : A global retrospective chart review of anonymized patient records from 8 institutions. Eligibility criteria included male and born between 01Jan1930 to 31Dec2005, genetically confirmed CHM, and ≥2 clinic visits spanning ≥5 years. Data including VA and kinetic VF sensitivity (measured by sum total meridian degrees) were collected.

Results : Deidentified medical charts from 125 males (age at clinic visit ranged 2-82 years) were collected. All had recorded VAs that were converted to a LogMAR score. Age and VA demonstrated a non-linear relationship: VA remained fairly stable through the fourth decade of life then worsened by a rate of 0.026 LogMAR per year. Kinetic VF sensitivity was available for 107 eligible subjects (age 7-82 years) and decreased with age. There was a statistically significant age-effect interaction by VF test type for both the I4e and V4e stimuli for each of the left and right eyes (p<0.001). A 1-year increase in age decreased the I4e visual field by approximately 10.4 sum total meridian degrees for the left and right eyes; the V4e visual field decreased by approximately 24.3 sum total meridian degrees for the left and right eyes.

Conclusions : In a cohort of genetically confirmed CHM patients, VF deterioration occurs at a higher rate than visual acuity early in the disease, whereas VA decreases are more profound in the later stages.

This is a 2021 ARVO Annual Meeting abstract.


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