1. Qian, Tianwei, Gong, Qiaoyun, Shen, Hangqi, Schrauwen, Isabelle, Wang, Weijun. 2022. Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus. In BMC ophthalmology, 22, 69. doi:10.1186/s12886-022-02301-5. https://pubmed.ncbi.nlm.nih.gov/35148716/
2. Skorczyk-Werner, Anna, Pawłowski, Przemysław, Michalczuk, Marta, Bakunowicz-Łazarczyk, Alina, Krawczyński, Maciej R. 2015. Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). In Journal of applied genetics, 56, 317-27. doi:10.1007/s13353-015-0281-x. https://pubmed.ncbi.nlm.nih.gov/25820994/
3. Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Bolz, Hanno J, Charbel Issa, Peter. 2018. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. In Scientific reports, 8, 4824. doi:10.1038/s41598-018-22096-0. https://pubmed.ncbi.nlm.nih.gov/29555955/
4. Nakamura, Makoto, Skalet, Jason, Miyake, Yozo. . RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. In Documenta ophthalmologica. Advances in ophthalmology, 107, 3-11. doi:. https://pubmed.ncbi.nlm.nih.gov/12906118/
5. Zolnikova, I V, Kadyshev, V V, Marakhonov, A V, Egorova, I V, Rogova, S Yu. . [Fundus albipunctatus with mutations in the RDH5 gene (clinical case)]. In Vestnik oftalmologii, 137, 68-73. doi:10.17116/oftalma202113701168. https://pubmed.ncbi.nlm.nih.gov/33610152/
6. Katagiri, Satoshi, Hayashi, Takaaki, Nakamura, Masaki, Iwata, Takeshi, Nakano, Tadashi. . RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort. In Investigative ophthalmology & visual science, 61, 53. doi:10.1167/iovs.61.3.53. https://pubmed.ncbi.nlm.nih.gov/32232344/
7. You, Hyelin, Sierpina, David. 2022. A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy. In Case reports in genetics, 2022, 1183772. doi:10.1155/2022/1183772. https://pubmed.ncbi.nlm.nih.gov/35433063/
8. Bianco, Lorenzo, Antropoli, Alessio, Benadji, Amine, Zeitz, Christina, Audo, Isabelle. 2024. RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes. In American journal of ophthalmology, 267, 160-171. doi:10.1016/j.ajo.2024.06.016. https://pubmed.ncbi.nlm.nih.gov/38945349/
9. Sato, Masaki, Oshika, Tetsuro, Kaji, Yuuichi, Nose, Harumi. . A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. In Ophthalmic research, 36, 43-50. doi:. https://pubmed.ncbi.nlm.nih.gov/15007239/
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