Macular spatial distribution of preserved autofluorescence in patients with choroideremia

Amir H Hariri; Michael S Ip; Aniz Girach; Byron L Lam; M Dominik Fischer; Eeva-Marja Sankila; Mark Edward Pennesi; Frank G Holz; Robert E Maclaren; David G Birch; Carel B Hoyng; Ian M MacDonald; Graeme C Black; Stephen H Tsang; Neil M Bressler; Kimberly E Stepien; Michael Larsen; Michael B Gorin; Isabelle Meunier; Andrew R Webster; SriniVas Sadda; For Natural History of the Progression of Choroideremia (NIGHT) Study Group

doi:10.1136/bjophthalmol-2018-312620

Macular spatial distribution of preserved autofluorescence in patients with choroideremia

Br J Ophthalmol. 2019 Jul;103(7):933-937. doi: 10.1136/bjophthalmol-2018-312620. Epub 2018 Oct 8.

Authors

Amir H Hariri^{1

2}, Michael S Ip^{1

2}, Aniz Girach³, Byron L Lam⁴, M Dominik Fischer⁵, Eeva-Marja Sankila⁶, Mark Edward Pennesi⁷, Frank G Holz⁸, Robert E Maclaren^{9

10}, David G Birch¹¹, Carel B Hoyng¹², Ian M MacDonald¹³, Graeme C Black¹⁴, Stephen H Tsang^{15

16}, Neil M Bressler¹⁷, Kimberly E Stepien¹⁸, Michael Larsen¹⁹, Michael B Gorin², Isabelle Meunier²⁰, Andrew R Webster^{21

22}, SriniVas Sadda^{23

2}; For Natural History of the Progression of Choroideremia (NIGHT) Study Group

Affiliations

¹ Doheny Image Reading Center, Doheny Eye Institute, Pasadena, California, USA.
² Department of Ophthalmology, David Geffen School of Medicine of the University of California-Los Angeles, Los Angeles, California, USA.
³ Nightstar Therapeutics, London, UK.
⁴ Bascom Palmer Eye Institute, University of Miami Miller, School of Medicine, Miami, Florida, USA.
⁵ Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
⁶ Helsinki University Eye Hospital, Helsinki, Finland.
⁷ Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
⁸ Department of Ophthalmology, University of Bonn, Bonn, Germany.
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 Moorfields Eye Hospital, NHS Foundation Trust, NIHR Biomedical Research Centre, London, Texas, USA.
¹¹ Retina Foundation of the Southwest, Dallas, Texas, USA.
¹² Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
¹³ Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
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 Department of Ophthalmology, Columbia University, New York, New York, USA.
¹⁶ Department of Pathology and Cell Biology, Columbia University, New York, New York, USA.
¹⁷ Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
¹⁸ Department of Ophthalmology & Visual Sciences, Madison, Wisconsin, USA.
¹⁹ Department of Ophthalmology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.
²⁰ Eye Clinic, Hôpital Robert Debré, CHRU de Reims, Reims, France.
²¹ Moorfields Eye Hospital NHS Foundation Trust, London, UK.
²² UCL Institute of Ophthalmology, London, UK.
²³ Doheny Image Reading Center, Doheny Eye Institute, Pasadena, California, USA [email protected].

Abstract

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.

Keywords: choroideremia; ellipsoid zone; fundus autofluorescence; optical coherence tomography; preserved autofluorescence; retinal pigment epithelium.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Choroideremia / diagnosis*
Fluorescein Angiography / methods*
Fovea Centralis / pathology*
Fundus Oculi
Humans
Multimodal Imaging*
Retinal Pigment Epithelium / pathology*
Tomography, Optical Coherence / methods*
Visual Acuity*

Grants and funding

R01 EY009076/EY/NEI NIH HHS/United States