June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Four-year prospective follow-up in patients with CRB1-associated retinal dystrophies
Author Affiliations & Notes
  • Jessica Serena Karuntu
    Leids Universitair Medisch Centrum, Leiden, Zuid-Holland, Netherlands
  • Xuan-Thanh-An Nguyen
    Leids Universitair Medisch Centrum, Leiden, Zuid-Holland, Netherlands
  • Mays Talib
    Leids Universitair Medisch Centrum, Leiden, Zuid-Holland, Netherlands
  • Mary J. van Schooneveld
    Amsterdam Universitair Medische Centra, Amsterdam, Noord-Holland, Netherlands
  • Jan Wijnholds
    Leids Universitair Medisch Centrum, Leiden, Zuid-Holland, Netherlands
  • Mies M. van Genderen
    Bartimeus, Zeist, Utrecht, Netherlands
  • Nicoline E. Schalij-Delfos
    Leids Universitair Medisch Centrum, Leiden, Zuid-Holland, Netherlands
  • Caroline C W Klaver
    Radboudumc, Nijmegen, Gelderland, Netherlands
    Erasmus MC, Rotterdam, Zuid-Holland, Netherlands
  • Ralph J. Florijn
    Amsterdam Universitair Medische Centra, Amsterdam, Noord-Holland, Netherlands
  • Jacoline B ten Brink
    Amsterdam Universitair Medische Centra, Amsterdam, Noord-Holland, Netherlands
  • Magda M. Meester-Smoor
    Erasmus MC, Rotterdam, Zuid-Holland, Netherlands
  • L. Ingeborgh van den Born
    Oogziekenhuis Rotterdam, Rotterdam, South Holland, Netherlands
  • Carel C B Hoyng
    Radboudumc, Nijmegen, Gelderland, Netherlands
  • Alberta A H J Thiadens
    Erasmus MC, Rotterdam, Zuid-Holland, Netherlands
  • Arthur A. Bergen
    Amsterdam Universitair Medische Centra, Amsterdam, Noord-Holland, Netherlands
  • Camiel J F Boon
    Leids Universitair Medisch Centrum, Leiden, Zuid-Holland, Netherlands
    Amsterdam Universitair Medische Centra, Amsterdam, Noord-Holland, Netherlands
  • Footnotes
    Commercial Relationships   Jessica Karuntu None; Xuan-Thanh-An Nguyen None; Mays Talib None; Mary van Schooneveld None; Jan Wijnholds Leiden University Medical Center, Code P (Patent); Mies van Genderen None; Nicoline Schalij-Delfos None; Caroline Klaver None; Ralph Florijn None; Jacoline ten Brink None; Magda Meester-Smoor None; L. van den Born None; Carel Hoyng None; Alberta Thiadens None; Arthur Bergen None; Camiel Boon None
  • Footnotes
    Support  UitZicht grant, Curing Retinal Blindness Foundation, Stichting Blindenhulp, Bontius Stichting, Retina Fonds
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 4479 – F0266. doi:
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      Jessica Serena Karuntu, Xuan-Thanh-An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Mies M. van Genderen, Nicoline E. Schalij-Delfos, Caroline C W Klaver, Ralph J. Florijn, Jacoline B ten Brink, Magda M. Meester-Smoor, L. Ingeborgh van den Born, Carel C B Hoyng, Alberta A H J Thiadens, Arthur A. Bergen, Camiel J F Boon; Four-year prospective follow-up in patients with CRB1-associated retinal dystrophies. Invest. Ophthalmol. Vis. Sci. 2022;63(7):4479 – F0266.

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

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Abstract

Purpose : Investigate the natural history of CRB1-associated retinal dystrophies (RDs) over the course of 4 years to define optimal clinical endpoints for upcoming gene therapy trials.

Methods : Fifteen patients with genetically confirmed CRB1-associated RDs were included in this prospective study with a mean age of 26.5 years (SD ± 10.2, range 10.5 – 45.5 years) and mean follow-up time of 4.1 years (SD ± 0.2, range 4.0 – 4.7 years). Patients underwent extensive characterization including slit-lamp examination, color fundus photography, spectral-domain OCT, fundus autofluorescence, best-corrected visual acuity (BCVA) using the ETDRS letter chart, Goldmann kinetic perimetry, microperimetry, and full-field stimulus threshold (FST) testing.

Results : Patients were diagnosed with retinitis pigmentosa (13 patients, 86.7%), cone-rod dystrophy (1 patient, 6.7%), or isolated macular dystrophy (1 patient, 6.7%). Analysis revealed a non-significant decrease in BCVA from 0.82 logMAR (Snellen visual acuity 20/132) at baseline to 0.94 logMAR (Snellen visual acuity 20/174) after four years (p = 0.105). Furthermore, overall retinal sensitivity using FST was not significantly altered over four years (-0.9 dB; p = 0.685). Macular sensitivity, measured using microperimetry, demonstrated a significant reduction in average threshold from 9.7 dB to 7.1 dB (-2.6 dB, p = 0.001).

Conclusions : The current analysis of the four-year natural history study in patients with CRB1-associated RD revealed that BCVA and general retinal sensitivity on FST did not change significantly. However, macular sensitivity did show progressive significant decline, and may therefore be a useful and more time-sensitive clinical endpoint for upcoming gene therapy trials for CRB1-associated RDs.

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

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