A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)-Reference-Cited by-同舟云学术

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A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)

Published:2021-01-29 Issue:1 Volume:143 Page:61-73
ISSN:0012-4486
Container-title:Documenta Ophthalmologica
language:en
Short-container-title:Doc Ophthalmol

Author:

Pappalardo Juanita^ORCID,Heath Jeffery Rachael C.^ORCID,Thompson Jennifer A.^ORCID,Chelva Enid^ORCID,Pham Quang^ORCID,Constable Ian J.^ORCID,McLaren Terri L.^ORCID,Lamey Tina M.^ORCID,De Roach John N.^ORCID,Chen Fred K.^ORCID

Funder

Australian National Health and Medical Research Council

McCusker Foundation

Miocevich Retina Fellowship

Retina Australia

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Sensory Systems,Ophthalmology

Link

https://link.springer.com/content/pdf/10.1007/s10633-021-09819-x.pdf

Reference43 articles.

1. Zahid S, Branham K, Schlegel D, Pennesi ME, Michaelides M, Heckenlively J, Jayasundera T (2018) RPE65. In: Zahid S (ed) Retinal dystrophy gene atlas. Springer International Publishing, New York, p 251

2. Moiseyev G, Chen Y, Takahashi Y, Wu BX, Ma JX (2005) RPE65 is the isomerohydrolase in the retinoid visual cycle. Proc Natl Acad Sci U S A 102(35):12413–12418

3. Jin M, Li S, Moghrabi WN, Sun H, Travis GH (2005) RPE65 is the retinoid isomerase in bovine retinal pigment epithelium. Cell 122(3):449–459

4. Redmond TM, Poliakov E, Yu S, Tsai JY, Lu Z, Gentleman S (2005) Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. Proc Natl Acad Sci U S A 102(38):13658–13663

5. Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP (1998) Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc Natl Acad Sci U S A 95(6):3088–3093

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Macular neovascularization in inherited retinal diseases: A review;Survey of Ophthalmology;2024-01

2. First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers;Journal of Clinical Medicine Research;2022-04

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