Interpretation of <i>Expert consensus on diagnosis and treatment of choroideremia (2024)</i>_Chinese Journal of Ocular Fundus Diseases

Authors：

Han Xiaoxu ,  Sui Ruifang

Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China;

Corresponding author：

Sui Ruifang, Email: hrfsui@163.com

Keywords：

Choroideremia; CHM gene variants; Inherited ocular diseases; Interpretation of expert consensus

DOI：

10.3760/cma.j.cn511434-20240611-00228

Video：

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Choroideremia (CHM) is a rare inherited eye disease that leads to blindness. It is caused by pathogenic variants in the CHM gene and exhibits X-linked recessive inheritance. Affected males present with progressively worsening night blindness, visual field loss, and decreased central vision, which can cause blindness in middle age. Although female carriers typically exhibit mild symptoms, it is essential to understand their clinical features for early diagnosis of patients as well as genetic counseling of family members. Currently, the recognition and diagnosis rates of CHM among ophthalmologists in various regions and levels of hospitals in China still need to be improved. A standardized clinical pathway is needed to meet the diagnostic and treatment needs of patients. Led by the the Chinese Hereditary Ocular Disease Diagnosis and the Treatment Group and the Chinese Hereditary Ocular Disease Alliance, based on existing evidence both domestically and internationally, the Expert consensus on diagnosis and treatment of choroideremia (2024) has been compiled, systematically and comprehensively elaborating on the standardized clinical pathways for CHM. Interpreting the key points of this consensus will help highlight its core points and ideas, enhancing the standardization and effectiveness of the diagnosis and treatment of CHM by ophthalmologists from all levels of hospitals.

Citation： Han Xiaoxu, Sui Ruifang. Interpretation of Expert consensus on diagnosis and treatment of choroideremia (2024). Chinese Journal of Ocular Fundus Diseases, 2024, 40(7): 495-499. doi: 10.3760/cma.j.cn511434-20240611-00228 Copy

1.	MacDonald IM, Smaoui N, Seabra MC. Choroideremia[M]//PagonRA, Bird TD, Dolan CR, et al. Gene Reviews. Seattle WA: University of Washington, Seattle, 1993.
2.	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[J]. Hum Mutat, 1997, 9(2): 110-117. DOI: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D.
3.	Edwards TL, Groppe M, Jolly JK, et al. Correlation of retinal structure and function in choroideremia carriers[J]. Ophthalmology, 2015, 122(6): 1274-1276. DOI: 10.1016/j.ophtha.2014.12.036.
4.	Gocuk SA, Jolly JK, Edwards TL, et al. Female carriers of X-linked inherited retinal diseases-genetics, diagnosis, and potential therapies[J/OL]. Prog Retin Eye Res, 2023, 96: 101190[2023-07-03]. https://pubmed.ncbi.nlm.nih.gov/37406879/. DOI: 10.1016/j.preteyeres.2023.101190.
5.	Flaxel CJ, Jay M, Thiselton D, et al. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa[J]. Br J Ophthalmol, 1999, 83(10): 1144-1148. DOI: 10.1136/bjo.83.10.1144.
6.	Wu AL, Wang JP, Tseng YJ, et al. Multimodal imaging of mosaic retinopathy in carriers of hereditary X-linked recessive diseases[J]. Retina (Philadelphia, Pa), 2018, 38(5): 1047-1057. DOI: 10.1097/IAE.0000000000001629.
7.	McTaggart KE, Tran M, Mah DY, et al. Mutational analysis of patients with the diagnosis of choroideremia[J]. Hum Mutat, 2002, 20(3): 189-196. DOI: 10.1002/humu.10114.
8.	van den Hurk JA, van de Pol DJ, Wissinger B, et al. Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon[J]. Hum Genet, 2003, 113(3): 268-275. DOI: 10.1007/s00439-003-0970-0.
9.	Shen LL, Ahluwalia A, Sun M, et al. Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes[J]. Br J Ophthalmol, 2021, 105(2): 271-278. DOI: 10.1136/bjophthalmol-2020-316028.
10.	Bozkaya D, Zou H, Lu C, et al. Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis[J]. BMC Ophthalmol, 2022, 22(1): 29. DOI: 10.1186/s12886-022-02250-z.
11.	Han X, Wu S, Li H, et al. Clinical characteristics and molecular genetic analysis of a cohort of Chinese patients with choroideremia[J]. Retina (Philadelphia, Pa), 2020, 40(11): 2240-2253. DOI: 10.1097/IAE.0000000000002743.
12.	Song Y, Chen C, Xie Y, et al. Clinical and genetic findings in a Chinese cohort with choroideremia[J]. Eye (Lond), 2023, 37(3): 459-466. DOI: 10.1038/s41433-022-01950-6.
13.	Taylor LJ, Josan AS, Pfau M, et al. Scotopic microperimetry: evolution, applications and future directions[J]. Clin Exp Optom, 2022, 105(8): 793-800. DOI: 10.1080/08164622.2021.2023477.
14.	Pfau M, Jolly JK, Wu Z, et al. Fundus-controlled perimetry (microperimetry): application as outcome measure in clinical trials[J/OL]. Prog Retin Eye Res, 2021, 82: 100907[2020-10-03]. https://pubmed.ncbi.nlm.nih.gov/33022378/. DOI: 10.1016/j.preteyeres.2020.100907.
15.	Hu ML, Edwards TL, O'Hare F, et al. Gene therapy for inherited retinal diseases: progress and possibilities[J]. Clin Exp Optom, 2021, 104(4): 444-454. DOI: 10.1080/08164622.2021.1880863.
16.	Gange WS, Sisk RA, Besirli CG, et al. Perifoveal chorioretinal atrophy after subretinal voretigene neparvovec-rzyl for RPE65-mediated Leber congenital amaurosis[J]. Ophthalmol Retina, 2022, 6(1): 58-64. DOI: 10.1016/j.oret.2021.03.016.

1. MacDonald IM, Smaoui N, Seabra MC. Choroideremia[M]//PagonRA, Bird TD, Dolan CR, et al. Gene Reviews. Seattle WA: University of Washington, Seattle, 1993.
2. 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[J]. Hum Mutat, 1997, 9(2): 110-117. DOI: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D.
3. Edwards TL, Groppe M, Jolly JK, et al. Correlation of retinal structure and function in choroideremia carriers[J]. Ophthalmology, 2015, 122(6): 1274-1276. DOI: 10.1016/j.ophtha.2014.12.036.
4. Gocuk SA, Jolly JK, Edwards TL, et al. Female carriers of X-linked inherited retinal diseases-genetics, diagnosis, and potential therapies[J/OL]. Prog Retin Eye Res, 2023, 96: 101190[2023-07-03]. https://pubmed.ncbi.nlm.nih.gov/37406879/. DOI: 10.1016/j.preteyeres.2023.101190.
5. Flaxel CJ, Jay M, Thiselton D, et al. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa[J]. Br J Ophthalmol, 1999, 83(10): 1144-1148. DOI: 10.1136/bjo.83.10.1144.
6. Wu AL, Wang JP, Tseng YJ, et al. Multimodal imaging of mosaic retinopathy in carriers of hereditary X-linked recessive diseases[J]. Retina (Philadelphia, Pa), 2018, 38(5): 1047-1057. DOI: 10.1097/IAE.0000000000001629.
7. McTaggart KE, Tran M, Mah DY, et al. Mutational analysis of patients with the diagnosis of choroideremia[J]. Hum Mutat, 2002, 20(3): 189-196. DOI: 10.1002/humu.10114.
8. van den Hurk JA, van de Pol DJ, Wissinger B, et al. Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon[J]. Hum Genet, 2003, 113(3): 268-275. DOI: 10.1007/s00439-003-0970-0.
9. Shen LL, Ahluwalia A, Sun M, et al. Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes[J]. Br J Ophthalmol, 2021, 105(2): 271-278. DOI: 10.1136/bjophthalmol-2020-316028.
10. Bozkaya D, Zou H, Lu C, et al. Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis[J]. BMC Ophthalmol, 2022, 22(1): 29. DOI: 10.1186/s12886-022-02250-z.
11. Han X, Wu S, Li H, et al. Clinical characteristics and molecular genetic analysis of a cohort of Chinese patients with choroideremia[J]. Retina (Philadelphia, Pa), 2020, 40(11): 2240-2253. DOI: 10.1097/IAE.0000000000002743.
12. Song Y, Chen C, Xie Y, et al. Clinical and genetic findings in a Chinese cohort with choroideremia[J]. Eye (Lond), 2023, 37(3): 459-466. DOI: 10.1038/s41433-022-01950-6.
13. Taylor LJ, Josan AS, Pfau M, et al. Scotopic microperimetry: evolution, applications and future directions[J]. Clin Exp Optom, 2022, 105(8): 793-800. DOI: 10.1080/08164622.2021.2023477.
14. Pfau M, Jolly JK, Wu Z, et al. Fundus-controlled perimetry (microperimetry): application as outcome measure in clinical trials[J/OL]. Prog Retin Eye Res, 2021, 82: 100907[2020-10-03]. https://pubmed.ncbi.nlm.nih.gov/33022378/. DOI: 10.1016/j.preteyeres.2020.100907.
15. Hu ML, Edwards TL, O'Hare F, et al. Gene therapy for inherited retinal diseases: progress and possibilities[J]. Clin Exp Optom, 2021, 104(4): 444-454. DOI: 10.1080/08164622.2021.1880863.
16. Gange WS, Sisk RA, Besirli CG, et al. Perifoveal chorioretinal atrophy after subretinal voretigene neparvovec-rzyl for RPE65-mediated Leber congenital amaurosis[J]. Ophthalmol Retina, 2022, 6(1): 58-64. DOI: 10.1016/j.oret.2021.03.016.

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