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The Role of Vitamin A in Retinal Diseases.
Sajovic J, Meglič A, Glavač D, Markelj Š, Hawlina M, Fakin A. Sajovic J, et al. Int J Mol Sci. 2022 Jan 18;23(3):1014. doi: 10.3390/ijms23031014. Int J Mol Sci. 2022. PMID: 35162940 Free PMC article. Review.
Vitamin A is an essential fat-soluble vitamin that occurs in various chemical forms. It is essential for several physiological processes. ...In this process, large quantities of vitamin A in the form of 11-cis-retinal are being isomerized to all-trans- …
Vitamin A is an essential fat-soluble vitamin that occurs in various chemical forms. It is essential for several physiological …
RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes.
Bianco L, Antropoli A, Benadji A, Condroyer C, Antonio A, Navarro J, Sahel JA, Zeitz C, Audo I. Bianco L, et al. Am J Ophthalmol. 2024 Nov;267:160-171. doi: 10.1016/j.ajo.2024.06.016. Epub 2024 Jun 28. Am J Ophthalmol. 2024. PMID: 38945349 Free article.
METHODS: Twenty-two patients with molecularly confirmed RLBP1-associated retinopathy and 5 with RDH5-associated retinopathy. Medical records were reviewed to obtain data on family history and ophthalmologic examinations, including retinal imaging and full-field elec …
METHODS: Twenty-two patients with molecularly confirmed RLBP1-associated retinopathy and 5 with RDH5-associated retinopathy. Medical …
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.
Khan R, Shabbir RMK, Raza I, Abdullah U, Naeem MA, Ahmed A, Malik S, Hu Z, Xia K. Khan R, et al. Ophthalmic Genet. 2020 Feb;41(1):7-12. doi: 10.1080/13816810.2019.1709124. Epub 2020 Jan 14. Ophthalmic Genet. 2020. PMID: 31933420
Whole-exome sequencing was applied to the index subjects in both families. Sanger sequencing of the candidate RDH5 variant was carried out. Pathogenicity of the detected variant was assessed through bioinformatics tools.Results: The ophthalmic examination through fu …
Whole-exome sequencing was applied to the index subjects in both families. Sanger sequencing of the candidate RDH5 variant was …
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM, Daruwalla A, De Silva SR, Winkler PA, Sun K, Pasmanter N, Minella A, Querubin J, Lyons LA; 99 Lives Consortium; Robson AG, Heon E, Michaelides M, Webster AR, Palczewski K, Vincent A, Mahroo OA, Kiser PD, Petersen-Jones SM. Occelli LM, et al. Hum Mol Genet. 2022 Apr 22;31(8):1263-1277. doi: 10.1093/hmg/ddab316. Hum Mol Genet. 2022. PMID: 34726233 Free PMC article.
Pathogenic variants in retinol dehydrogenase 5 (RDH5) attenuate supply of 11-cis-retinal to photoreceptors leading to a range of clinical phenotypes including night blindness because of markedly slowed rod dark adaptation and in some patients, macular …
Pathogenic variants in retinol dehydrogenase 5 (RDH5) attenuate supply of 11-cis-retinal to photoreceptors leadi …
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Qian T, Gong Q, Shen H, Li C, Wang G, Xu X, Schrauwen I, Wang W. Qian T, et al. BMC Ophthalmol. 2022 Feb 11;22(1):69. doi: 10.1186/s12886-022-02301-5. BMC Ophthalmol. 2022. PMID: 35148716 Free PMC article.
(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter. CONCLUSION: We identified novel compound heterozygous varia …
(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate w …
Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.
Azhar Baig HM, Ansar M, Iqbal A, Naeem MA, Quinodoz M, Calzetti G, Iqbal M, Rivolta C. Azhar Baig HM, et al. Ophthalmic Res. 2022;65(1):104-110. doi: 10.1159/000520895. Epub 2021 Nov 15. Ophthalmic Res. 2022. PMID: 34781300 Free article.
METHODS: We analyzed four large consanguineous families from the Southern Punjab region of Pakistan including multiple individuals affected with CSNB. ...RESULTS: We identified two novel and likely pathogenic variants in two pedigrees, namely, NM_002905.4:c.668A>C (p.Gl …
METHODS: We analyzed four large consanguineous families from the Southern Punjab region of Pakistan including multiple individuals af …
Retinal dehydrogenase 5 (RHD5) attenuates metastasis via regulating HIPPO/YAP signaling pathway in Hepatocellular Carcinoma.
Hu H, Xu L, Luo SJ, Xiang T, Chen Y, Cao ZR, Zhang YJ, Mo Z, Wang Y, Meng DF, Yu L, Lin LZ, Zhang SJ. Hu H, et al. Int J Med Sci. 2020 Jul 19;17(13):1897-1908. doi: 10.7150/ijms.46091. eCollection 2020. Int J Med Sci. 2020. PMID: 32788868 Free PMC article.
Retinal dehydrogenase 5 (RDH5) is an important enzyme in the visual cycle. Several studies have reported that the RDH family may play crucial roles in tumor prognosis. ...Functional assays revealed that the RDH5 promoter is methylated in HCC cell lines …
Retinal dehydrogenase 5 (RDH5) is an important enzyme in the visual cycle. Several studies have reported that the RDH famil …
Canine and Feline Models of Inherited Retinal Diseases.
Petersen-Jones SM, Komáromy AM. Petersen-Jones SM, et al. Cold Spring Harb Perspect Med. 2024 Feb 1;14(2):a041286. doi: 10.1101/cshperspect.a041286. Cold Spring Harb Perspect Med. 2024. PMID: 37217283 Review.
The established cat and dog models include those for Leber congenital amaurosis, retinitis pigmentosa (including recessive, dominant, and X-linked forms), achromatopsia, Best disease, congenital stationary night blindness and other synaptic dysfunctions, RDH5-associated re …
The established cat and dog models include those for Leber congenital amaurosis, retinitis pigmentosa (including recessive, dominant, and X- …
Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.
Lim HY, Joo K. Lim HY, et al. Korean J Ophthalmol. 2024 Dec;38(6):461-470. doi: 10.3341/kjo.2024.0089. Epub 2024 Oct 22. Korean J Ophthalmol. 2024. PMID: 39434579 Free PMC article.
Within the 10 patients, six were genetically confirmed with monogenic retinal disorders. Biallelic pathogenic variants in RDH5 were found in five patients, and one patient was diagnosed with retinopathy related to Alport syndrome due to a pathogenic variant in COL4A5. ...N …
Within the 10 patients, six were genetically confirmed with monogenic retinal disorders. Biallelic pathogenic variants in RDH5 were f …
Identification of prognostic biomarkers related to retinoic acid metabolism in gliomas and analysis of their impact on the immune microenvironment.
Xu S, Yang G, Xu F, Yang Y, Wang J. Xu S, et al. Medicine (Baltimore). 2024 Oct 11;103(41):e39836. doi: 10.1097/MD.0000000000039836. Medicine (Baltimore). 2024. PMID: 39465792 Free PMC article.
Then, a RA metabolism-related prognostic signature was built based on the 7 prognostic genes (ADH4, DHRS3, DHRS9, LRAT, RDH10, RDH12, and RDH5). Glioma patients were separated into 2 risk subgroups (low-risk vs high-risk) based on the median value of the risk score. ...Fin …
Then, a RA metabolism-related prognostic signature was built based on the 7 prognostic genes (ADH4, DHRS3, DHRS9, LRAT, RDH10, RDH12, and …
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