. 2019 Jul;103(7):933-937.

doi: 10.1136/bjophthalmol-2018-312620. Epub 2018 Oct 8.

Macular spatial distribution of preserved autofluorescence in patients with choroideremia

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 ssadda@doheny.org.

PMID: 30297337
PMCID: PMC6533159
DOI: 10.1136/bjophthalmol-2018-312620

Macular spatial distribution of preserved autofluorescence in patients with choroideremia

Amir H Hariri et al. Br J Ophthalmol. 2019 Jul.

. 2019 Jul;103(7):933-937.

doi: 10.1136/bjophthalmol-2018-312620. Epub 2018 Oct 8.

Authors

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 ssadda@doheny.org.

PMID: 30297337
PMCID: PMC6533159
DOI: 10.1136/bjophthalmol-2018-312620

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.

PubMed Disclaimer

Conflict of interest statement

Competing interests: None declared.

Figures

**Figure 1**
Taking advantage of Heidelberg Eye Explorer (HEYEX) review software, the foveal centre was marked on infrared reflectance images under the guidance of corresponding optical coherence tomography scans in every case, followed by application of an ETDRS grid.

**Figure 2**
All infrared reflectance images with ETDRS grid (left panel) were registered to the fundus autofluorescence images (right panel).

**Figure 3**
The boundaries of preserved autofluorescence were manually segmented in each individual ETDRS subfield separately.

**Figure 4**
The average of preserved autofluorescence areas in different ETDRS subfields in mm².

See this image and copyright information in PMC

References

1. van den Hurk JA, Schwartz M, van Bokhoven H, et al. Molecular basis of choroideremia (CHM): mutations involving the rab escort protein-1 (REP-1) gene. Hum Mutat 1997;9:110–7. - PubMed
1. Jacobson SG, Cideciyan AV, Sumaroka A, et al. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci 2006;47:4113–20. - PubMed
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Macular spatial distribution of preserved autofluorescence in patients with choroideremia

Affiliations

Macular spatial distribution of preserved autofluorescence in patients with choroideremia

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources