回旋状脉络膜视网膜萎缩合并黄斑劈裂1例_Chinese Journal of Ocular Fundus Diseases

Authors：

 张树军 , 吕爱国

河北省邯郸市眼科医院（邯郸市第三医院）眼科, 邯郸 056001;

Corresponding author：

张树军, Email: handanzsj@163.com

Keywords：

脉络膜视网膜萎缩; 黄斑劈裂; 病例报告

DOI：

10.3760/cma.j.cn511434-20220424-00242

Video：

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Citation： 张树军, 吕爱国. 回旋状脉络膜视网膜萎缩合并黄斑劈裂1例. Chinese Journal of Ocular Fundus Diseases, 2023, 39(7): 585-587. doi: 10.3760/cma.j.cn511434-20220424-00242 Copy

1.	Montioli R, Bellezza I, Desbats MA, et al. Deficit of human ornithine aminotransferase in gyrate atrophy: molecular, cellular, and clinical aspects[J/OL]. Biochim Biophys Acta Proteins Proteom, 2021, 1869(1): 140555[2020-10-14]. https://linkinghub.elsevier.com/retrieve/pii/S1570-9639(20)30202-8.
2.	Goel N, Jain P, Arora S, et alGyrate atrophy of the choroid and retina with cystoid macular edema and unilateral opticdisc drusen[J]. J Pediatr Ophthalmol Strabismus201552164. DOI: 10.3928/01913913-20141230-11.
3.	张文华, 但汉东, 李晓丽, 等回旋状脉络膜视网膜萎缩一家系的新型突变与临床观察[J]. 国际眼科杂志2002228693697. DOI: 10.3980/j.issn.1672-5123.2022.4.35..Zhang WH, Dan HD, Li XL, et alNovel gene mutation and clinical features in a family with gyrate atrophy of choroid and retina[J]. Int Eye Sci2002228693697. DOI: 10.3980/j.issn.1672-5123.2022.4.35.
4.	Sakamoto K, Mori A, Nakahara T, et alEffect of long-term treatment of L-ornithine on visual function and retinal histology in the rats[J]. Biol Pharm Bull2015381139143. DOI: 10.1248/bpb.b14-00491.
5.	Labiano AT, Arroyo MH. Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine[J/OL]. GMS Ophthalmol Cases, 2020, 10: Doc04[2020-02-27]. https://europepmc.org/article/MED/32269902. DOI: 10.3205/oc000131.
6.	Kaiser-Kupfer MI, Kuwabara T, Askanas V, et alSystemic manifestations of gyrate atrophy of the choroid and retina[J]. Ophthalmology1981884302306. DOI: 10.1016/s0161-6420(81)35030-1.
7.	李娟娟, 黎铧回旋状脉络膜视网膜萎缩进展变化的临床观察[J]. 中国实用眼科杂志2016348845848. DOI:10.3760/cma.j.issn.1006-4443.2016.08.018..Li JJ, Li HProgression of gyrate atrophy of the choroids and retina[J]. Chin J Pract Ophthalmol2016348845848. DOI:10.3760/cma.j.issn.1006-4443.2016.08.018.
8.	MacDonald IM, Russell L, Chan CCChoroideremia: new findings from ocular pathology and review of recent literature[J]. Surv Ophthalmol2009543401407. DOI: 10.1016/j.survophthal.2009.02.008.
9.	Coussa RG, Traboulsi EIChoroideremia: a review of general findings and pathogenesis[J]. Ophthalmic Genet20123325765. DOI: 10.3109/13816810.2011.620056.
10.	Kim JH, Han JW, Choi EW, etal. Clinical manifestations and genetic analysis of 5 korean choroideremia patients initially diagnosed with retinitis pigmentosa[J/OL]. J Korean Med Sci, 2022, 37(3): e5[2022-01-17]. https://europepmc.org/article/MED/35040292. DOI: 10.3346/jkms.2022.37.e5.
11.	Shrestha SP, Arora R, Pradhan R, et al. First reported cases of gyrate atrophy of the choroid from Nepal[J/OL]. BMJ Case Rep, 2010, 2010: bcr0420102951[2010-11-29]. https://europepmc.org/article/MED/22798087. DOI: 10.1136/bcr.04.2010.2951.
12.	Zhioua Braham I, Ammous I, Maalej R, et alMultimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report[J]. BMC Ophthalmol201818189. DOI: 10.1186/s12886-018-0755-9.
13.	Casalino G, Pierro L, Manitto MP, etalResolution of cystoid macular edema following arginine-restricted diet and vitamin B6 supplementation in a case of gyrate atrophy[J]. J AAPOS2018224321323. DOI: 10.1016/j.jaapos.2017.12.016.
14.	Cui X, Jauregui R, Park KS, etalMultimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy[J]. Ophthalmic Genet2018394512516. DOI: 10.1080/13816810.2018.1474370.
15.	Guan W, Wang G, Hu F, etalPartial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl[J]. BMC Ophthalmol202121193. DOI: 10.1186/s12886-021-01862-1.

1. Montioli R, Bellezza I, Desbats MA, et al. Deficit of human ornithine aminotransferase in gyrate atrophy: molecular, cellular, and clinical aspects[J/OL]. Biochim Biophys Acta Proteins Proteom, 2021, 1869(1): 140555[2020-10-14]. https://linkinghub.elsevier.com/retrieve/pii/S1570-9639(20)30202-8.
2. Goel N, Jain P, Arora S, et alGyrate atrophy of the choroid and retina with cystoid macular edema and unilateral opticdisc drusen[J]. J Pediatr Ophthalmol Strabismus201552164. DOI: 10.3928/01913913-20141230-11.
3. 张文华, 但汉东, 李晓丽, 等回旋状脉络膜视网膜萎缩一家系的新型突变与临床观察[J]. 国际眼科杂志2002228693697. DOI: 10.3980/j.issn.1672-5123.2022.4.35..Zhang WH, Dan HD, Li XL, et alNovel gene mutation and clinical features in a family with gyrate atrophy of choroid and retina[J]. Int Eye Sci2002228693697. DOI: 10.3980/j.issn.1672-5123.2022.4.35.
4. Sakamoto K, Mori A, Nakahara T, et alEffect of long-term treatment of L-ornithine on visual function and retinal histology in the rats[J]. Biol Pharm Bull2015381139143. DOI: 10.1248/bpb.b14-00491.
5. Labiano AT, Arroyo MH. Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine[J/OL]. GMS Ophthalmol Cases, 2020, 10: Doc04[2020-02-27]. https://europepmc.org/article/MED/32269902. DOI: 10.3205/oc000131.
6. Kaiser-Kupfer MI, Kuwabara T, Askanas V, et alSystemic manifestations of gyrate atrophy of the choroid and retina[J]. Ophthalmology1981884302306. DOI: 10.1016/s0161-6420(81)35030-1.
7. 李娟娟, 黎铧回旋状脉络膜视网膜萎缩进展变化的临床观察[J]. 中国实用眼科杂志2016348845848. DOI:10.3760/cma.j.issn.1006-4443.2016.08.018..Li JJ, Li HProgression of gyrate atrophy of the choroids and retina[J]. Chin J Pract Ophthalmol2016348845848. DOI:10.3760/cma.j.issn.1006-4443.2016.08.018.
8. MacDonald IM, Russell L, Chan CCChoroideremia: new findings from ocular pathology and review of recent literature[J]. Surv Ophthalmol2009543401407. DOI: 10.1016/j.survophthal.2009.02.008.
9. Coussa RG, Traboulsi EIChoroideremia: a review of general findings and pathogenesis[J]. Ophthalmic Genet20123325765. DOI: 10.3109/13816810.2011.620056.
10. Kim JH, Han JW, Choi EW, etal. Clinical manifestations and genetic analysis of 5 korean choroideremia patients initially diagnosed with retinitis pigmentosa[J/OL]. J Korean Med Sci, 2022, 37(3): e5[2022-01-17]. https://europepmc.org/article/MED/35040292. DOI: 10.3346/jkms.2022.37.e5.
11. Shrestha SP, Arora R, Pradhan R, et al. First reported cases of gyrate atrophy of the choroid from Nepal[J/OL]. BMJ Case Rep, 2010, 2010: bcr0420102951[2010-11-29]. https://europepmc.org/article/MED/22798087. DOI: 10.1136/bcr.04.2010.2951.
12. Zhioua Braham I, Ammous I, Maalej R, et alMultimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report[J]. BMC Ophthalmol201818189. DOI: 10.1186/s12886-018-0755-9.
13. Casalino G, Pierro L, Manitto MP, etalResolution of cystoid macular edema following arginine-restricted diet and vitamin B6 supplementation in a case of gyrate atrophy[J]. J AAPOS2018224321323. DOI: 10.1016/j.jaapos.2017.12.016.
14. Cui X, Jauregui R, Park KS, etalMultimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy[J]. Ophthalmic Genet2018394512516. DOI: 10.1080/13816810.2018.1474370.
15. Guan W, Wang G, Hu F, etalPartial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl[J]. BMC Ophthalmol202121193. DOI: 10.1186/s12886-021-01862-1.

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回旋状脉络膜视网膜萎缩合并黄斑劈裂1例

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