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Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Sarkar H, Moosajee M. Sarkar H, et al. Exp Eye Res. 2019 Nov;188:107793. doi: 10.1016/j.exer.2019.107793. Epub 2019 Sep 7. Exp Eye Res. 2019. PMID: 31505163 Review.
Retinol dehydrogenase 12 (RDH12) is an NADPH-dependent retinal reductase, which is expressed in the inner segments of the photoreceptors. ...A number of in-vitro studies have shown that mutations in RDH12 result in little or no enzyme activity. Knockout mouse models …
Retinol dehydrogenase 12 (RDH12) is an NADPH-dependent retinal reductase, which is expressed in the inner segments of the photorecept …
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
Kuo CY, Chung MY, Chen SJ. Kuo CY, et al. J Med Genet. 2023 Sep;60(9):859-865. doi: 10.1136/jmg-2022-108918. Epub 2023 Jan 23. J Med Genet. 2023. PMID: 36690427 Free PMC article.
Genomic DNA sequencing was performed using whole exome sequencing or direct sequencing of retinol dehydrogenase 12 (RDH12) coding exons. RESULTS: Seven patients, including one male and six female patients, with pseudocoloboma-like maculopathy had biallelic missense RDH1 …
Genomic DNA sequencing was performed using whole exome sequencing or direct sequencing of retinol dehydrogenase 12 (RDH12) coding exo …
RDH12 retinopathy: clinical features, biology, genetics and future directions.
Daich Varela M, Michaelides M. Daich Varela M, et al. Ophthalmic Genet. 2022 Jun;43(3):301-306. doi: 10.1080/13816810.2022.2062392. Epub 2022 May 2. Ophthalmic Genet. 2022. PMID: 35491887 Free PMC article.
Retinol dehydrogenase 12 (RDH12) is a small gene located on chromosome 14, encoding an enzyme capable of metabolizing retinoids. ...Future directions: There is currently no treatment available for RDH12-retinopathy. However, extensive preclinical investigations and …
Retinol dehydrogenase 12 (RDH12) is a small gene located on chromosome 14, encoding an enzyme capable of metabolizing retinoids. ...F …
RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods.
Kaylor JJ, Frederiksen R, Bedrosian CK, Huang M, Stennis-Weatherspoon D, Huynh T, Ngan T, Mulamreddy V, Sampath AP, Fain GL, Travis GH. Kaylor JJ, et al. Curr Biol. 2024 Aug 5;34(15):3342-3353.e6. doi: 10.1016/j.cub.2024.06.031. Epub 2024 Jul 8. Curr Biol. 2024. PMID: 38981477 Free PMC article.
The human protein most similar to ZCRDH is RDH12. By immunocytochemistry, ZCRDH was abundantly present in cone inner segments, similar to the reported distribution of RDH12. Finally, RDH12 was the only mammalian candidate protein to exhibit 11cROL-oxidase cat …
The human protein most similar to ZCRDH is RDH12. By immunocytochemistry, ZCRDH was abundantly present in cone inner segments, simila …
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
Fahim AT, Thompson DA. Fahim AT, et al. Adv Exp Med Biol. 2019;1185:209-213. doi: 10.1007/978-3-030-27378-1_34. Adv Exp Med Biol. 2019. PMID: 31884613 Free PMC article. Review.
Mutations in retinol dehydrogenase 12 (RDH12) cause a severe early-onset retinal degeneration, for which there is no treatment. ...RDH12-associated retinal degeneration is particularly devastating due to early macular atrophy, which will likely impact therapeutic ou …
Mutations in retinol dehydrogenase 12 (RDH12) cause a severe early-onset retinal degeneration, for which there is no treatment. ... …
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301590 Free Books & Documents. Review.
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy.
Feathers KL, Jia L, Perera ND, Chen A, Presswalla FK, Khan NW, Fahim AT, Smith AJ, Ali RR, Thompson DA. Feathers KL, et al. Hum Gene Ther. 2019 Nov;30(11):1325-1335. doi: 10.1089/hum.2019.017. Epub 2019 Aug 5. Hum Gene Ther. 2019. PMID: 31237438 Free PMC article.
Individuals with RDH12 deficiency exhibit widespread retinal degeneration impacting both rods and cones. Although Rdh12-deficient (Rdh12(-)(/-)) mice do not exhibit retinal degeneration, functional deficits relevant to visual cycle function can be demonstrate …
Individuals with RDH12 deficiency exhibit widespread retinal degeneration impacting both rods and cones. Although Rdh12-defici …
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R. Zou X, et al. Retina. 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242. Retina. 2019. PMID: 30134391
PURPOSE: To characterize the phenotypic variability and report the genetic defects in a cohort of Chinese patients with biallelic variants of the retinol dehydrogenase 12 (RDH12) gene. METHODS: The study included 38 patients from 38 unrelated families with biallelic pathog …
PURPOSE: To characterize the phenotypic variability and report the genetic defects in a cohort of Chinese patients with biallelic variants o …
Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids.
Méjécase C, Zhou Y, Owen N, Soro-Barrio P, Cheloni R, Nair N, Sarkar H, Toualbi L, Moosajee M. Méjécase C, et al. Front Cell Dev Biol. 2025 Apr 29;13:1511066. doi: 10.3389/fcell.2025.1511066. eCollection 2025. Front Cell Dev Biol. 2025. PMID: 40365019 Free PMC article.
Heterozygous variants in RDH12 cause a rare autosomal dominant (AD) retinitis pigmentosa. METHODS: As no disease models exist, we generated human induced pluripotent stem cell-derived retinal organoids (RO) from an RDH12-AD patient (with pathogenic variant c.759del, …
Heterozygous variants in RDH12 cause a rare autosomal dominant (AD) retinitis pigmentosa. METHODS: As no disease models exist, we gen …
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Scott HA, Place EM, Ferenchak K, Zampaglione E, Wagner NE, Chao KR, DiTroia SP, Navarro-Gomez D, Mukai S, Huckfeldt RM, Pierce EA, Bujakowska KM. Scott HA, et al. Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1):a004754. doi: 10.1101/mcs.a004754. Print 2020 Feb. Cold Spring Harb Mol Case Stud. 2020. PMID: 32014858 Free PMC article.
Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. ...The broad phenotypic spectrum observed with biallelic RDH12 mutations has been observed in other genetic forms of IRDs, but the diversity is part …
Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. ...The broad ph …
184 results