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Retina
Deep phenotyping of PROM1-associated retinal degeneration
  1. Gernot Schließleder1,
  2. Angelos Kalitzeos2,3,
  3. Melissa Kasilian2,3,
  4. Navjit Singh2,3,
  5. Ziyuan Wang4,5,
  6. Zhihong Hu4,5,
  7. Manuel Großpötzl1,
  8. SriniVas Sadda6,
  9. Andreas Wedrich1,
  10. Michel Michaelides2,3,
  11. Rupert W Strauss1,2,3,7,8
  1. 1 Department of Ophthalmology, Medical University Graz, Graz, Styria, Austria
  2. 2 UCL Institute of Ophthalmology, University College London, London, UK
  3. 3 Moorfields Eye Hospital, NHS Foundation Trust, London, UK
  4. 4 School of Engineering, University of California, Los Angeles, California, USA
  5. 5 Doheny Image Analysis Laboratory, Doheny Eye Institute, Los Angeles, California, USA
  6. 6 Doheny Image Reading Center, David Geffen School of Medicine at University of California Los Angeles, Pasadena, California, USA
  7. 7 Department of Ophthalmology, Kepler University Hospital University Clinic for Ophthalmology and Optometry, Linz, Austria
  8. 8 Institute of Molecular and Clinical Ophthalmology Basel (IoB), Basel, Switzerland
  1. Correspondence to Dr Rupert W Strauss, Department of Ophthalmology, Medical University of Graz, Graz, 8036, Austria; r.strauss{at}medunigraz.at

Abstract

Background/aims The purpose of this study was to investigate retinal structure in detail of subjects with autosomal-dominant (AD) and autosomal-recessive (AR) PROM1-associated retinal degeneration (PROM1-RD), study design: institutional, cross-sectional study.

Methods Four eyes from four subjects (three with AD and one with AR) PROM1-RD were investigated by ophthalmic examination including best-corrected visual acuity (BCVA) and multimodal retinal imaging: fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT) and adaptive optics scanning light ophthalmoscopy. Quantitative assessment of atrophic lesions determined by FAF, thickness of individual retinal layers and cone photoreceptor quantification was performed.

Results BCVA ranged from 20/16 to 20/200. Initial pathological changes included the presence of hyperautofluorescent spots on FAF imaging, while later stages demonstrated discrete areas of atrophy. In all patients, thinning of the outer retinal layers on SD-OCT with varying degrees of atrophy could be detected depending on disease-causing variants and age. Cone density was quantified both in central and/or at different eccentricities from the fovea. Longitudinal assessments were possible in two patients.

Conclusions PROM1-RD comprises a wide range of clinical phenotypes. Depending on the stage of disease, the cone mosaic in PROM1-RD is relatively preserved and can potentially be targeted by cone-directed interventions.

  • Dystrophy
  • Genetics
  • Imaging
  • Retina

Data availability statement

Data are available on reasonable request.

https://doi.org/10.1136/bjo-2022-322036

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    Data availability statement

    Data are available on reasonable request.

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    Footnotes

    • Twitter @UCL_Retina, @UCL_Retina, @UCL_Retina

    • MM and RWS contributed equally.

    • Contributors GS: analysis and interpretation of data for the work. AK: acquisition, analysis and interpretation of data for the work. MK: acquisition, analysis and interpretation of data for the work. NS: acquisition, analysis and interpretation of data for the work. ZW: analysis and interpretation of data for the work. ZH: analysis and interpretation of data for the work. MG: analysis and interpretation of data for the work. SS: analysis and interpretation of data for the work. AW: analysis and interpretation of data for the work. MM: design, analysis and interpretation of data for the work. RWS: design, acquisition, analysis and interpretation of data for the work. MM and RWS are as guarantors.

    • Funding This project was supported in part by the National Center for Advancing Translational Sciences, National Institutes of Health, through grant UL1TR000055, and grants from the National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, and The Wellcome Trust (099173/Z/12/Z). RWS is supported by Foundation Fighting Blindness Clinical Research Institute.

    • Competing interests SS serves as a consultant for Amgen, Apellis, Alnylam, Pfizer, Abbvie/Allergan, Roche/Genentech, Novartis, Regeneron, 4DMT, Oxurion, Gyroscope, Nanoscope, Heidelberg, Optos, and Centervue. He has received speaker fees from Heidelberg, Carl Zeiss Meditec, Nidek, Topcon, Optos, and Novartis. He has received research instruments from Heidelberg, Carl Zeiss Meditec, Nidek, Topcon, Optos and Centervue.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.