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Ta-Ching Chen^{1

2}, Pei-Lung Chen^{3

4

5}, Yi-Chieh Chen¹, Chang-Hao Yang^{1

6}, Chung-May Yang^{1

6}

Affiliations

¹ Department of Ophthalmology, National Taiwan University, Taipei, Taiwan.
² Center of Frontier Medicine, National Taiwan University, Taipei, Taiwan.
³ Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.
⁴ Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
⁵ Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
⁶ Department of Ophthalmology, College of Medicine, National Taiwan University, Taipei, Taiwan.

Ta-Ching Chen et al. Retina. 2023.

. 2023 Feb 1;43(2):e11-e12.

doi: 10.1097/IAE.0000000000003663.

Ta-Ching Chen^{1

2}, Pei-Lung Chen^{3

4

5}, Yi-Chieh Chen¹, Chang-Hao Yang^{1

6}, Chung-May Yang^{1

6}

¹ Department of Ophthalmology, National Taiwan University, Taipei, Taiwan.
² Center of Frontier Medicine, National Taiwan University, Taipei, Taiwan.
³ Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.
⁴ Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
⁵ Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
⁶ Department of Ophthalmology, College of Medicine, National Taiwan University, Taipei, Taiwan.

No abstract available

References

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1. Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141, 456 humans. Nature 2020;581:434–443.
1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med; 2015;17:405–424.
1. Li A, Jiao X, Munier FL, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 2004;74:817–826.
1. Jinda W, Taylor TD, Suzuki Y, et al. Whole exome sequencing in eight Thai patients with leber congenital amaurosis reveals mutations in the CTNNA1 and CYP4V2 genes. Invest Ophthalmol Vis Sci 2017;58:2413–2420.