- Choroideremia
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Lee CY, Shin TY
- KMID: 1948769
- J Korean Ophthalmol Soc.
- 1981 Jun;22(2):433-438.
Choroideremia is characterized by progressive atrophy of choroid and pigment epithelium of retina leading to night blindness and gross loss of field. and is inherited as X chromosome linked intermediate.... -
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- A Case of Choroideremia with Recurrent Anterior Uveitis
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O SJ, Kim SH, Lee HY
- KMID: 754343
- Korean J Ophthalmol.
- 2003 Jun;17(1):55-62.
- doi: 10.3341/kjo.2003.17.1.55
Choroideremia is a rare hereditary disease with characteristic fundus that causes night blindness and peripheral visual field loss. The authors encounter choroideremia accompanied by recurrent uveitis. This paper is designed... -
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- Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia
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Bae K, Song JS, Lee C, Kim NK, Park WY, Kim BJ, Ki CS, Kim SJ
- KMID: 2383921
- Ann Lab Med.
- 2017 Sep;37(5):438-442.
- doi: 10.3343/alm.2017.37.5.438
Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with... -
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- Regression of Choroidal Neovascularization in a Choroideremia Patient after Intravitreal Bevacizumab Injection: A Case Report
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Kim DB, Jung MO, Cho SW, Choi GJ, Kim DH
- KMID: 2214649
- J Korean Ophthalmol Soc.
- 2011 Jun;52(6):742-745.
- doi: 10.3341/jkos.2011.52.6.742
PURPOSE: To report the first domestic case of choroidal neovascularization in a choroideremia patient treated with intravitreal bevacizumab injection. CASE SUMMARY: A 29-year-old male presented with a sudden decline in vision... -
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- Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
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Kim MS, Joo K, Seong MW, Kim MJ, Park KH, Park SS, Woo SJ
- KMID: 2456270
- J Korean Med Sci.
- 2019 Jun;34(21):e161.
- doi: 10.3346/jkms.2019.34.e161
BACKGROUND: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date,... -
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