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Literature DB >> 30297337

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.

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. © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Entities: Chemical Disease Gene Species

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

Mesh：

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

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

15 in total

1. Normative data of outer photoreceptor layer thickness obtained by software image enhancing based on Stratus optical coherence tomography images.

Authors: U C Christensen; K Kroyer; J Thomadsen; T M Jorgensen; M la Cour; B Sander
Journal: Br J Ophthalmol Date: 2008-06 Impact factor: 4.638

2. Spatial distribution of posterior pole choroidal thickness by spectral domain optical coherence tomography.

Authors: Yanling Ouyang; Florian M Heussen; Nils Mokwa; Alexander C Walsh; Mary K Durbin; Pearse A Keane; P James Sanchez; Humberto Ruiz-Garcia; Srinivas R Sadda
Journal: Invest Ophthalmol Vis Sci Date: 2011-09-01 Impact factor: 4.799

3. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.

Authors: Samuel G Jacobson; Artur V Cideciyan; Alexander Sumaroka; Tomas S Aleman; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Edwin M Stone; Ian M MacDonald
Journal: Invest Ophthalmol Vis Sci Date: 2006-09 Impact factor: 4.799

4. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

Authors: Sara J Bowne; Marian M Humphries; Lori S Sullivan; Paul F Kenna; Lawrence C S Tam; Anna S Kiang; Matthew Campbell; George M Weinstock; Daniel C Koboldt; Li Ding; Robert S Fulton; Erica J Sodergren; Denis Allman; Sophia Millington-Ward; Arpad Palfi; Alex McKee; Susan H Blanton; Susan Slifer; Ioanna Konidari; G Jane Farrar; Stephen P Daiger; Peter Humphries
Journal: Eur J Hum Genet Date: 2011-06-08 Impact factor: 4.246

5. Cloning of a gene that is rearranged in patients with choroideraemia.

Authors: F P Cremers; D J van de Pol; L P van Kerkhoff; B Wieringa; H H Ropers
Journal: Nature Date: 1990-10-18 Impact factor: 49.962

6. Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa.

Authors: David G Birch; Kirsten G Locke; Yuquan Wen; Kelly I Locke; Dennis R Hoffman; Donald C Hood
Journal: JAMA Ophthalmol Date: 2013-09 Impact factor: 7.389

7. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase.

Authors: M C Seabra; M S Brown; J L Goldstein
Journal: Science Date: 1993-01-15 Impact factor: 47.728

8. Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.

Authors: Amir H Hariri; Swetha B Velaga; Aniz Girach; Michael S Ip; Phuc V Le; Byron L Lam; M Dominik Fischer; Eeva-Marja Sankila; Mark E 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; Michael Larsen; Michael B Gorin; Andrew R Webster; SriniVas R Sadda
Journal: Am J Ophthalmol Date: 2017-05-10 Impact factor: 5.258

9. Characterizing the Natural History of Visual Function in Choroideremia Using Microperimetry and Multimodal Retinal Imaging.

Authors: Jasleen K Jolly; Kanmin Xue; Thomas L Edwards; Markus Groppe; Robert E MacLaren
Journal: Invest Ophthalmol Vis Sci Date: 2017-10-01 Impact factor: 4.799

10. Visual Acuity after Retinal Gene Therapy for Choroideremia.

Authors: Thomas L Edwards; Jasleen K Jolly; Markus Groppe; Alun R Barnard; Charles L Cottriall; Tanya Tolmachova; Graeme C Black; Andrew R Webster; Andrew J Lotery; Graham E Holder; Kanmin Xue; Susan M Downes; Matthew P Simunovic; Miguel C Seabra; Robert E MacLaren
Journal: N Engl J Med Date: 2016-04-27 Impact factor: 91.245

8 in total

Macular spatial distribution of preserved autofluorescence in patients with choroideremia.

1. Normative data of outer photoreceptor layer thickness obtained by software image enhancing based on Stratus optical coherence tomography images.

2. Spatial distribution of posterior pole choroidal thickness by spectral domain optical coherence tomography.

3. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.

4. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

5. Cloning of a gene that is rearranged in patients with choroideraemia.

6. Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa.

7. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase.

8. Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.

9. Characterizing the Natural History of Visual Function in Choroideremia Using Microperimetry and Multimodal Retinal Imaging.

10. Visual Acuity after Retinal Gene Therapy for Choroideremia.

Review 1. Gene therapy for inherited retinal diseases.

2. Progress in the development of novel therapies for choroideremia.

3. Multimodal imaging in a case of choroideremia.

4. Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis.

5. Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.

6. Quantification of RPE Changes in Choroideremia Using a Photoshop-Based Method.

Review 7. Molecular Therapies for Choroideremia.

Review 8. Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.