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Hereditary retinal dystrophy

MedGen UID:
57825
Concept ID:
C0154860
Disease or Syndrome
Synonym: Hereditary Retinal Dystrophy
SNOMED CT: Hereditary retinal dystrophy (41799005)

Definition

An inherited form of retinal dystrophy. [from NCI]

Professional guidelines

PubMed

Kang L, Jin S, Wang J, Lv Z, Xin C, Tan C, Zhao M, Wang L, Liu J
J Control Release 2023 Mar;355:458-473. Epub 2023 Feb 13 doi: 10.1016/j.jconrel.2023.01.067. PMID: 36736907

Recent clinical studies

Etiology

Kahraman NS, Öner A, Özkul Y, Dündar M
Turk J Ophthalmol 2022 Aug 25;52(4):270-275. doi: 10.4274/tjo.galenos.2021.74944. PMID: 36017377Free PMC Article
Woon PY, Chien JY, Wang JH, Chou YY, Lin MC, Huang SP
BMJ Open 2022 Apr 8;12(4):e054111. doi: 10.1136/bmjopen-2021-054111. PMID: 35396285Free PMC Article
Barnes AC, Hanif AM, Jain N
Ophthalmol Retina 2020 Dec;4(12):1196-1201. Epub 2020 May 21 doi: 10.1016/j.oret.2020.05.008. PMID: 32446908
Oray M, Kir N, Tuncer S, Onal S, Tugal-Tutkun I
Ocul Immunol Inflamm 2013 Dec;21(6):424-33. Epub 2013 Jun 3 doi: 10.3109/09273948.2013.799215. PMID: 23730997
Siqueira RC, Messias A, Voltarelli JC, Scott IU, Jorge R
Retina 2011 Jun;31(6):1207-14. doi: 10.1097/IAE.0b013e3181f9c242. PMID: 21293313

Diagnosis

Kong L, Chu G, Ma W, Liang J, Liu D, Liu Q, Wei X, Jia S, Gu H, He Y, Luo W, Cao S, Zhou X, He R, Yuan Z
J Med Genet 2023 Oct;60(10):939-950. Epub 2023 Apr 3 doi: 10.1136/jmg-2022-108888. PMID: 37012052
Kahraman NS, Öner A, Özkul Y, Dündar M
Turk J Ophthalmol 2022 Aug 25;52(4):270-275. doi: 10.4274/tjo.galenos.2021.74944. PMID: 36017377Free PMC Article
Woon PY, Chien JY, Wang JH, Chou YY, Lin MC, Huang SP
BMJ Open 2022 Apr 8;12(4):e054111. doi: 10.1136/bmjopen-2021-054111. PMID: 35396285Free PMC Article
Barnes AC, Hanif AM, Jain N
Ophthalmol Retina 2020 Dec;4(12):1196-1201. Epub 2020 May 21 doi: 10.1016/j.oret.2020.05.008. PMID: 32446908
Han J, Rim JH, Hwang IS, Kim J, Shin S, Lee ST, Choi JR
Mol Vis 2017;23:649-659. Epub 2017 Sep 20 PMID: 28966547Free PMC Article

Therapy

Barnes AC, Hanif AM, Jain N
Ophthalmol Retina 2020 Dec;4(12):1196-1201. Epub 2020 May 21 doi: 10.1016/j.oret.2020.05.008. PMID: 32446908
Sears AE, Palczewski K
Biochemistry 2016 Jun 7;55(22):3082-91. Epub 2016 May 23 doi: 10.1021/acs.biochem.6b00319. PMID: 27183166Free PMC Article
Tibbetts MD, Samuel MA, Chang TS, Ho AC
Curr Opin Ophthalmol 2012 May;23(3):226-34. doi: 10.1097/ICU.0b013e328352407d. PMID: 22450217
Siqueira RC, Messias A, Voltarelli JC, Scott IU, Jorge R
Retina 2011 Jun;31(6):1207-14. doi: 10.1097/IAE.0b013e3181f9c242. PMID: 21293313
Adrian W, Everson RW, Schmidt I
Adv Exp Med Biol 1977;77:233-47. doi: 10.1089/ten.2005.11.1004. PMID: 848394

Prognosis

Bodenbender JP, Marino V, Philipp J, Tropitzsch A, Kernstock C, Stingl K, Kempf M, Haack TB, Zuleger T, Mazzola P, Kohl S, Weisschuh N, Dell'Orco D, Kühlewein L
Sci Rep 2024 May 8;14(1):10551. doi: 10.1038/s41598-024-61019-0. PMID: 38719929Free PMC Article
Xiao YS, He WJ, Jiang HC, Tan L, Ma J, Zhang Z
J Med Case Rep 2023 Jun 2;17(1):226. doi: 10.1186/s13256-023-03830-3. PMID: 37264419Free PMC Article
Woon PY, Chien JY, Wang JH, Chou YY, Lin MC, Huang SP
BMJ Open 2022 Apr 8;12(4):e054111. doi: 10.1136/bmjopen-2021-054111. PMID: 35396285Free PMC Article
Plössl K, Straub K, Schmid V, Strunz F, Wild J, Merkl R, Weber BHF, Friedrich U
PLoS One 2019;14(5):e0216320. Epub 2019 May 2 doi: 10.1371/journal.pone.0216320. PMID: 31048931Free PMC Article
Oray M, Kir N, Tuncer S, Onal S, Tugal-Tutkun I
Ocul Immunol Inflamm 2013 Dec;21(6):424-33. Epub 2013 Jun 3 doi: 10.3109/09273948.2013.799215. PMID: 23730997

Clinical prediction guides

Bodenbender JP, Marino V, Philipp J, Tropitzsch A, Kernstock C, Stingl K, Kempf M, Haack TB, Zuleger T, Mazzola P, Kohl S, Weisschuh N, Dell'Orco D, Kühlewein L
Sci Rep 2024 May 8;14(1):10551. doi: 10.1038/s41598-024-61019-0. PMID: 38719929Free PMC Article
Kang L, Jin S, Wang J, Lv Z, Xin C, Tan C, Zhao M, Wang L, Liu J
J Control Release 2023 Mar;355:458-473. Epub 2023 Feb 13 doi: 10.1016/j.jconrel.2023.01.067. PMID: 36736907
Plössl K, Straub K, Schmid V, Strunz F, Wild J, Merkl R, Weber BHF, Friedrich U
PLoS One 2019;14(5):e0216320. Epub 2019 May 2 doi: 10.1371/journal.pone.0216320. PMID: 31048931Free PMC Article
Siqueira RC, Messias A, Voltarelli JC, Scott IU, Jorge R
Retina 2011 Jun;31(6):1207-14. doi: 10.1097/IAE.0b013e3181f9c242. PMID: 21293313
Adrian W, Everson RW, Schmidt I
Adv Exp Med Biol 1977;77:233-47. doi: 10.1089/ten.2005.11.1004. PMID: 848394

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