Research & Literature

Functional Defects in Color Vision in Patients With Choroideremia.

Jolly JK, Groppe M, Birks J, et al.

American journal of ophthalmology 2015; (160(4)):822-31.e3.

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.

Guo H, Li J, Gao F, et al.

BMC ophthalmology 2015; (15()):85 doi:10.1186/s12886-015-0081-4.

High Prevalence of Untreated Depression in Patients Accessing Low-Vision Services.

Nollett CL, Bray N, Bunce C, et al.

Ophthalmology 2016; (123(2)):440-441 doi:10.1016/j.ophtha.2015.07.009.

Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia.

Chan SC, Bubela T, Dimopoulos IS, et al.

Ophthalmic genetics 2016; (37(3)):267-75 doi:10.3109/13816810.2015.1088958.

PHENOTYPING CHOROIDEREMIA AND ITS CARRIER STATE WITH MULTIMODAL IMAGING TECHNIQUES.

Ma KK, Lin J, Boudreault K, et al.

Retinal cases & brief reports 2017; (11 Suppl 1()):S178-S181 doi:10.1097/ICB.0000000000000419.

Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.

Aleman TS, Han G, Serrano LW, et al.

Ophthalmology 2017; (124(3)):359-373 doi:10.1016/j.ophtha.2016.10.022.

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

Hariri AH, Velaga SB, Girach A, et al.

American journal of ophthalmology 2017; (179()):110-117 doi:10.1016/j.ajo.2017.05.002.

A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.

Liang S, Jiang N, Li S, et al.

Molecular cytogenetics 2017; (10()):23 doi:10.1186/s13039-017-0324-6.

THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA.

Dimopoulos IS, Freund PR, Knowles JA, MacDonald IM

Retina (Philadelphia, Pa.) 2018; (38(9)):1731-1742 doi:10.1097/IAE.0000000000001764.

Raised Anxiety Levels Among Outpatients Preparing to Undergo a Medical Imaging Procedure: Prevalence and Correlates.

Forshaw KL, Boyes AW, Carey ML, et al.

Journal of the American College of Radiology : JACR 2018; (15(4)):630-638 doi:10.1016/j.jacr.2017.12.030.

Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia.

Imani S, Ijaz I, Shasaltaneh MD, et al.

Mutation research. Reviews in mutation research 2018; (775()):39-50 doi:10.1016/j.mrrev.2018.02.001.

Prevalence and impact of scan-related anxiety during coronary CT angiography: A prospective cohort study of 366 patients.

Ohana M, Sellers SL, Mooney J, et al.

Journal of cardiovascular computed tomography 2018; (12(5)):364-371 doi:10.1016/j.jcct.2018.04.013.

Prevalence and correlates of patient-centred preparatory information provision to computed tomography and magnetic resonance imaging outpatients: A cross-sectional study.

Hyde L, Mackenzie L, Boyes AW, et al.

Patient education and counseling 2018; (101(10)):1814-1822 doi:10.1016/j.pec.2018.05.025.

Choroideremia Gene Therapy Phase 2 Clinical Trial: 24-Month Results.

Lam BL, Davis JL, Gregori NZ, et al.

American journal of ophthalmology 2019; (197()):65-73 doi:10.1016/j.ajo.2018.09.012.

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.

Xue K, Jolly JK, Barnard AR, et al.

Nature medicine 2018; (24(10)):1507-1512 doi:10.1038/s41591-018-0185-5.

X-linked Choroideremia.

Tsang SH, Sharma T

Advances in experimental medicine and biology 2018; (1085()):37-42 doi:10.1007/978-3-319-95046-4_9.

High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia.

Suzuki K, Gocho K, Akeo K, et al.

Ophthalmic surgery, lasers & imaging retina 2019; (50(2)):76-85 doi:10.3928/23258160-20190129-03.

CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.

Di Iorio V, Esposito G, De Falco F, et al.

Investigative ophthalmology & visual science 2019; (60(5)):1547-1555 doi:10.1167/iovs.18-25501.

Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Jauregui R, Park KS, Tanaka AJ, et al.

American journal of ophthalmology 2019; (207()):77-86 doi:10.1016/j.ajo.2019.06.002.

Efficacy and Safety of Retinal Gene Therapy Using Adeno-Associated Virus Vector for Patients With Choroideremia: A Randomized Clinical Trial.

Fischer MD, Ochakovski GA, Beier B, et al.

JAMA ophthalmology 2019; (137(11)):1247-1254 doi:10.1001/jamaophthalmol.2019.3278.

HYPERREFLECTIVE FOCI AS A PATHOGENETIC BIOMARKER IN CHOROIDEREMIA.

Romano F, Arrigo A, MacLaren RE, et al.

Retina (Philadelphia, Pa.) 2020; (40(8)):1634-1640 doi:10.1097/IAE.0000000000002645.

Progress in the development of novel therapies for choroideremia.

Cehajic Kapetanovic J, Patrício MI, MacLaren RE

Expert review of ophthalmology 2019; (14(6)):277-285 doi:10.1080/17469899.2019.1699406.

Long-term Natural History of Atrophy in Eyes with Choroideremia-A Systematic Review and Meta-analysis of Individual-Level Data.

Shen LL, Ahluwalia A, Sun M, et al.

Ophthalmology. Retina 2020; (4(8)):840-852 doi:10.1016/j.oret.2020.03.003.

Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.

Dan H, Li T, Lei X, et al.

Bioscience reports 2020; (40(5)) doi:10.1042/BSR20200067.

Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches.

Hagag AM, Mitsios A, Narayan A, et al.

Eye (London, England) 2021; (35(3)):838-852 doi:10.1038/s41433-020-0974-1.

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.

Gao FJ, Tian GH, Hu FY, et al.

BMC ophthalmology 2020; (20(1)):212 doi:10.1186/s12886-020-01478-x.

Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation.

Mansfield BC, Yerxa BR, Branham KH

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(3)):838-845 doi:10.1002/ajmg.c.31825.

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.

Ortiz-Ramirez GY, Villanueva-Mendoza C, Zenteno Ruiz JC, et al.

Ophthalmic genetics 2020; (41(6)):625-628 doi:10.1080/13816810.2020.1810283.

The Michigan Vision-Related Anxiety Questionnaire: A Psychosocial Outcomes Measure for Inherited Retinal Degenerations.

Lacy GD, Abalem MF, Andrews CA, et al.

American journal of ophthalmology 2021; (225()):137-146 doi:10.1016/j.ajo.2020.12.001.

PERIPHERAL OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN A CHOROIDEREMIA CARRIER.

Corvi F, Corradetti G, Wong A, et al.

Retinal cases & brief reports 2022; (16(6)):766-769 doi:10.1097/ICB.0000000000001109.

REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.

Cunha DL, Richardson R, Tracey-White D, et al.

JCI insight 2021; (6(9)).

Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?

Han RC, Fry LE, Kantor A, et al.

Expert opinion on orphan drugs 2021; (9(1)):13-24 doi:10.1080/21678707.2021.1882300.

Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.

Fry LE, Patrício MI, Jolly JK, et al.

Translational vision science & technology 2021; (10(8)):12 doi:10.1167/tvst.10.8.12.

Low vision rehabilitation in improving the quality of life for patients with impaired vision: A systematic review and meta-analysis of 52 randomized clinical trials: Retraction.

Medicine 2021; (100(28)):e26669 doi:10.1097/MD.0000000000026669.

Choroideremia Gene Therapy.

Lam BL, Davis JL, Gregori NZ

International ophthalmology clinics 2021; (61(4)):185-193 doi:10.1097/IIO.0000000000000385.

Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.

Kalatzis V, Roux AF, Meunier I

Molecular diagnosis & therapy 2021; (25(6)):661-675 doi:10.1007/s40291-021-00558-y.

An In Silica Model for RPE Loss Patterns in Choroideremia.

Young BK, Shen LL, Del Priore LV

Investigative ophthalmology & visual science 2021; (62(14)):10 doi:10.1167/iovs.62.14.10.

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

Bozkaya D, Zou H, Lu C, et al.

BMC ophthalmology 2022; (22(1)):29 doi:10.1186/s12886-022-02250-z.

Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa.

Kim JH, Han JW, Choi EW, et al.

Journal of Korean medical science 2022; (37(3)):e5 doi:10.3346/jkms.2022.37.e5.

Choroideremia: molecular mechanisms and therapies.

Sarkar H, Moosajee M

Trends in molecular medicine 2022; (28(5)):378-387 doi:10.1016/j.molmed.2022.02.011.

Impact of inherited retinal diseases on Canadian patients and families: a mixed-methods study.

Kherani IZ, Andrews C, Pereira JA, et al.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2023; (58(6)):532-538 doi:10.1016/j.jcjo.2022.06.021.

Telerehabilitation Training to Facilitate Improved Reading Ability with New Magnification Devices for Low Vision.

Bittner AK, Kaminski JE, Ross NC, et al.

Optometry and vision science : official publication of the American Academy of Optometry 2022; (99(10)):743-749 doi:10.1097/OPX.0000000000001944.

Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy.

Yusuf IH, MacLaren RE

Cold Spring Harbor perspectives in medicine 2023; doi:10.1101/cshperspect.a041279.

Clinical and Genetic Findings in Korean Patients with Choroideremia.

Jo WG, Lee CS, Han J

Korean journal of ophthalmology : KJO 2023; (37(4)):285-291 doi:10.3341/kjo.2023.0020.

Rehabilitation Methods for Patients with Geographic Atrophy due to Age-Related Macular Degeneration and Effects of Rehabilitation on Quality of Life.

Erginturk Acar D, Batioglu F, Idil A, et al.

Journal of ophthalmology 2023; (2023()):3389750 doi:10.1155/2023/3389750.

Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia.

Sarkar H, Lahne M, Nair N, Moosajee M

Antioxidants (Basel, Switzerland) 2023; (12(9)) doi:10.3390/antiox12091694.

Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial.

MacLaren RE, Fischer MD, Gow JA, et al.

Nature medicine 2023; (29(10)):2464-2472 doi:10.1038/s41591-023-02520-3.

A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.

Waldock WJ, Taylor LJ, Sperring S, et al.

Ophthalmic genetics 2024; (45(2)):210-217 doi:10.1080/13816810.2023.2270554.

A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study.

Maclaren RE, Lam BL, Fischer MD, et al.

American journal of ophthalmology 2024; (263()):35-49 doi:10.1016/j.ajo.2024.01.022.

Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey.

Bonneau S, Kulbay M, Kahn-Ali S, Qian CX

Ophthalmic genetics 2024; (45(5)):452-461 doi:10.1080/13816810.2024.2357705.

Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.

Raeker MÖ, Perera ND, Karoukis AJ, et al.

Cells 2024; (13(12)) doi:10.3390/cells13121068.

Retinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and Genetics.

Gocuk SA, Edwards TL, Jolly JK, et al.

Ophthalmology. Retina 2024; (8(12)):1200-1210 doi:10.1016/j.oret.2024.06.011.

Investigating the impact of asymmetric macular sensitivity on visual acuity chart reading in choroideremia.

Baffour-Awuah KA, Taylor LJ, Josan AS, et al.

Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) 2024; (44(6)):1188-1201 doi:10.1111/opo.13356.

Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging.

Gocuk SA, Ayton LN, Edwards TL, et al.

The British journal of ophthalmology 2025; (109(2)):293-299 doi:10.1136/bjo-2024-325578.

A novel large multi-gene deletion in syndromic choroideremia.

Jung EH, Duemler A, Iannaccone A, Alekseev O

Ophthalmic genetics 2024; (45(5)):546-550 doi:10.1080/13816810.2024.2401850.

Exploring Scotopic Microperimetry as an Outcome Measure in Choroideremia.

Taylor LJ, Josan AS, Adeyoju D, et al.

Translational vision science & technology 2024; (13(9)):29 doi:10.1167/tvst.13.9.29.

Ranked Importance of Visual Function Outcome Measures in Choroideremia Clinical Trials.

Josan AS, Taylor LJ, Xue K, et al.

Investigative ophthalmology & visual science 2024; (65(13)):58 doi:10.1167/iovs.65.13.58.

Lytic photoreceptor cell death caused by Rab escort protein deficiency in Drosophila.

Sasaki S, Satoh R, Satoh T, Satoh AK

FEBS letters 2025; (599(18)):2598-2611 doi:10.1002/1873-3468.70056.

Loss of REP-1 in retinal pigment epithelial cells leads to impaired phagosome processing and altered lysosomal pathway function.

Coelho R, Antas P, Fonseca AF, et al.

Molecular biology of the cell 2025; (36(9)):ar116 doi:10.1091/mbc.E24-11-0497.

Patient experience in retinitis pigmentosa and Choroideremia- a concept elicitation study in 17 patients based on qualitative interviews.

Rometsch E, Thuresson PO, Hurst N, et al.

Orphanet journal of rare diseases 2025; (20(1)):418 doi:10.1186/s13023-025-03713-4.

Digital Physiotherapeutic Vision-Specific Training System for Patients with Diabetic Retinopathy: A Propensity Score-Matched Retrospective Cohort Study.

Ni L, Zhou Q, Fan M, et al.

Ophthalmology and therapy 2026; (15(1)):373-391 doi:10.1007/s40123-025-01283-z.

Optical coherence tomography-derived biomarkers for disease severity in choroideremia and choroideremia carriers.

Choi HS, Yoon CK, Park UC, et al.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2026; (61(3)):722-730 doi:10.1016/j.jcjo.2025.11.014.

Mapping the Outcomes of Low-Vision Rehabilitation: A Scoping Review of Interventions, Challenges, and Research Gaps.

Ekemiri K, Adebo O, Ekemiri C, et al.

Vision (Basel, Switzerland) 2026; (10(1)) doi:10.3390/vision10010003.

"Hypomorphic splice-site variants in the CHM gene: implications for patient selection and endpoint design in choroideremia gene therapy trials".

Amjad A, Ali MR, Ali U, Mahato RK

Annals of medicine and surgery (2012) 2026; (88(2)):2126-2127 doi:10.1097/MS9.0000000000004588.

Longitudinal and cross-sectional study of retinal phenotypes and visual function in choroideremia carriers: a new grading system.

Han X, Yu Y, Ding J, et al.

Eye and vision (London, England) 2026; (13(1)).