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Macular spatial distribution of preserved autofluorescence in patients with choroideremia
  1. Amir H Hariri1,2,
  2. Michael S Ip1,2,
  3. Aniz Girach3,
  4. Byron L Lam4,
  5. M. Dominik Fischer5,
  6. Eeva-Marja Sankila6,
  7. Mark Edward Pennesi7,
  8. Frank G Holz8,
  9. Robert E Maclaren9,10,
  10. David G Birch11,
  11. Carel B Hoyng12,
  12. Ian M MacDonald13,
  13. Graeme C Black14,
  14. Stephen H Tsang15,16,
  15. Neil M Bressler17,
  16. Kimberly E Stepien18,
  17. Michael Larsen19,
  18. Michael B Gorin2,
  19. Isabelle Meunier20,
  20. Andrew R Webster21,22,
  21. SriniVas Sadda1,2
  22. on behalf of For Natural History of the Progression of Choroideremia (NIGHT) Study Group
  1. 1 Doheny Image Reading Center, Doheny Eye Institute, Pasadena, California, USA
  2. 2 Department of Ophthalmology, David Geffen School of Medicine of the University of California-Los Angeles, Los Angeles, California, USA
  3. 3 Nightstar Therapeutics, London, UK
  4. 4 Bascom Palmer Eye Institute, University of Miami Miller, School of Medicine, Miami, Florida, USA
  5. 5 Centre for Ophthalmology, University of Tübingen, Tübingen, Germany
  6. 6 Helsinki University Eye Hospital, Helsinki, Finland
  7. 7 Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA
  8. 8 Department of Ophthalmology, University of Bonn, Bonn, Germany
  9. 9 Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Universityof Oxford and Oxford University Eye Hospital, NHS Foundation Trust, NIHR Biomedical Research Centre, Oxford, UK
  10. 10 Moorfields Eye Hospital, NHS Foundation Trust, NIHR Biomedical Research Centre, London, Texas, USA
  11. 11 Retina Foundation of the Southwest, Dallas, Texas, USA
  12. 12 Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands
  13. 13 Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada
  14. 14 Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK
  15. 15 Department of Ophthalmology, Columbia University, New York, New York, USA
  16. 16 Department of Pathology and Cell Biology, Columbia University, New York, New York, USA
  17. 17 Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
  18. 18 Department of Ophthalmology & Visual Sciences, Madison, Wisconsin, USA
  19. 19 Department of Ophthalmology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark
  20. 20 Eye Clinic, Hôpital Robert Debré, CHRU de Reims, Reims, France
  21. 21 Moorfields Eye Hospital NHS Foundation Trust, London, UK
  22. 22 UCL Institute of Ophthalmology, London, UK
  1. Correspondence to Dr SriniVas Sadda, Doheny Eye Institute, Los Angeles, CA 90033, USA; ssadda{at}


Background/Aims To better understand the pattern of degeneration progression in cases with choroideremia.

Methods A cohort of genotypically confirmed choroideremia cases who underwent optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging was studied. Using HEYEX review software, the foveal centre was marked on FAF images under guidance of corresponding OCT images, followed by application of an ETDRS grid. The boundaries of preserved autofluorescence (AF) were manually segmented in each individual ETDRS subfield. The regional distribution of preserved AF was assessed by comparing its area among the various subfields.

Results A total of 168 eyes from 84 choroideremia cases were enrolled. There was a statistically significant difference in the amount of preserved AF area between inner subfields as determined by one-way analysis of variance (F (3,668)=9.997, p<0.001) and also between outer subfields (F (3,668)=8.348, p<0.001). A Tukey posthoc test revealed that the preserved AF area in the nasal subfields in both the inner and outer subfields was significantly smaller compared with analogue subfields.

Conclusion The asymmetric spatial distribution of preserved AF in choroideremia (corresponding to the stellate shaped nature of these regions) suggests that the progression of degeneration has directional preference.

  • choroideremia
  • optical coherence tomography
  • fundus autofluorescence
  • preserved autofluorescence
  • ellipsoid zone
  • retinal pigment epithelium

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  • Presented at This work was presented at 2018 ARVO annual meeting in Honolulu, HI, USA on 2 May 2018 as an oral presentation.

  • Contributors AHH and SS have full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: AHH. Acquisition, analysis or interpretation of data: all authors. Drafting of the manuscript: AHH, SS. Critical revision of the manuscript for important intellectual content: all authors. Statistical analysis: AHH. Administrative, technical or material support: AG. Study supervision: SS.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Disclaimer AHH: No financial disclosures. MSI: Thrombogenics (Consultant), Boehringer Ingelheim (Consultant), Omeros (Consultant), Genentech (Consultant), Quark (Consultant). AG: Employee of Nightstar Therapeutics. BLL: Research funding from Nightstar Therapeutics. MDF: Nightstar Therapeutics (Consultant, Financial Support), Casebia Therapeutics (Consultant, Financial Support), Spark Therapeutics (Consultant), Regenxbio (Consultant), Eyeserve GmbH (Consultant), Bayer (Financial Support), Novartis (Financial Support). E-MS: No financial disclosures. MEP: No financial disclosures. FGH: Nightstar Therapeutics (Financial Support), Carl Zeiss Meditec (Financial Support), Optos (Financial Support), Allergan (Consultant, Financial Support), Roche/Genentech (Consultant, Financial Support), Alcon (Consultant), Novartis (Consultant/Financial Support), Bayer (Consultant/Financial Support), Boehringer-Ingelheim (Consultant), Centervue (Financial Support), lin Bioscience (Consultant), Pixium (Consultant/Financial Support), Thrombogenics (Consultant). REM: Nightstar Therapeutics (Financial Support, Consultant, Founder and Director), Spark Therapeutics (Consultant) DGB: Nightstar Therapeutics (Consultant, Financial Support), Ionis Pharmaceuticals (consultant, financial support), Genentech (consultant), Nacuity (consultant), AGTC (consultant, financial support), 4D (financial support). CBH: No financial disclosures. IMM: Allergan (Consultant), Canadian Institutes for Health Research (Grant support), Alberta Innovates (Grant support), Foundation Fighting Blindness (Grant support). GCB: No financial disclosures. SHT: No financial disclosures NMB: Alkeus; Bayer; Chiltern; Nighstar Therapeutics; Novartis; Roche Samsung Bioepis. KES: No financial disclosures. ML: No financial disclosures. MBG: No financial disclosures. IM: No financial disclosures. ARW: No financial disclosures. SS: Carl Zeiss Meditec (Consultant, Financial Support), Optos (Consultant, Financial Support), Allergan (Consultant, Financial Support), Genentech (Consultant, Financial Support), Alcon (Consultant), Novartis (Consultant), Iconic (Consultant).

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval University of California, Los Angeles.

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

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