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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
Sahli E, Arslan U, Özmert E, İdil A
Regen Med 2021 Feb;16(2):131-143. Epub 2021 Mar 23 doi: 10.2217/rme-2020-0075. PMID: 33754798
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
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
Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R
Invest Ophthalmol Vis Sci 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359. PMID: 25082885Free 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
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
Xu Y, Xiao X, Li S, Jia X, Xin W, Wang P, Sun W, Huang L, Guo X, Zhang Q
Exp Eye Res 2016 Aug;149:93-99. Epub 2016 Jun 30 doi: 10.1016/j.exer.2016.06.019. PMID: 27375279
Adrian W, Everson RW, Schmidt I
Adv Exp Med Biol 1977;77:233-47. doi: 10.1089/ten.2005.11.1004. PMID: 848394

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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