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Retinal Defect

MedGen UID:
102318
Concept ID:
C0154823
Anatomical Abnormality

Definition

An imperfection of the retina of the eye. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Jorge R, Costa RA, Cardillo JA, Uno F, Bonomo PP, Farah ME
Am J Ophthalmol 2006 Nov;142(5):869-71. doi: 10.1016/j.ajo.2006.05.062. PMID: 17056375

Recent clinical studies

Etiology

Romero-Morales VA, Bousquet E, Abraham N, Santina A, Somisetty S, Peiris T, Lu A, Fogel Levin M, Sarraf D
Retina 2023 Oct 1;43(10):1644-1652. doi: 10.1097/IAE.0000000000003889. PMID: 37433217
Hong EH, Cho H, Kim DR, Kang MH, Shin YU, Seong M
Invest Ophthalmol Vis Sci 2020 Feb 7;61(2):35. doi: 10.1167/iovs.61.2.35. PMID: 32084264Free PMC Article
Baek J, Lee JH, Lee WK
Graefes Arch Clin Exp Ophthalmol 2019 Sep;257(9):1863-1871. Epub 2019 Jun 20 doi: 10.1007/s00417-019-04388-x. PMID: 31222406
Osaka R, Manabe S, Miyoshi Y, Nakano Y, Yamashita A, Shiragami C, Hirooka K, Muraoka Y, Tsujikawa A
Graefes Arch Clin Exp Ophthalmol 2017 Sep;255(9):1743-1748. Epub 2017 Jul 2 doi: 10.1007/s00417-017-3717-7. PMID: 28669042
Willmore LJ, Abelson MB, Ben-Menachem E, Pellock JM, Shields WD
Epilepsia 2009 Feb;50(2):163-73. doi: 10.1111/j.1528-1167.2008.01988.x. PMID: 19230067

Diagnosis

McFarlane MT, Wright T, McCoy B, Snead OC 3rd, Westall CA
Neurology 2020 Feb 11;94(6):e575-e582. Epub 2019 Dec 2 doi: 10.1212/WNL.0000000000008686. PMID: 31792095Free PMC Article
Baek J, Lee JH, Lee WK
Graefes Arch Clin Exp Ophthalmol 2019 Sep;257(9):1863-1871. Epub 2019 Jun 20 doi: 10.1007/s00417-019-04388-x. PMID: 31222406
Osaka R, Manabe S, Miyoshi Y, Nakano Y, Yamashita A, Shiragami C, Hirooka K, Muraoka Y, Tsujikawa A
Graefes Arch Clin Exp Ophthalmol 2017 Sep;255(9):1743-1748. Epub 2017 Jul 2 doi: 10.1007/s00417-017-3717-7. PMID: 28669042
Strauss RW, Dubis AM, Cooper RF, Ba-Abbad R, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides M
Am J Ophthalmol 2015 Dec;160(6):1269-1275.e1. Epub 2015 Sep 3 doi: 10.1016/j.ajo.2015.08.032. PMID: 26343007Free PMC Article
Muraoka Y, Tsujikawa A, Hata M, Yamashiro K, Ellabban AA, Takahashi A, Nakanishi H, Ooto S, Tanabe T, Yoshimura N
JAMA Ophthalmol 2015 Apr;133(4):413-20. doi: 10.1001/jamaophthalmol.2014.5632. PMID: 25611517

Therapy

Chen X, Dajani OAW, Alibhai AY, Duker JS, Baumal CR
Retin Cases Brief Rep 2021 Sep 1;15(5):536-539. doi: 10.1097/ICB.0000000000000845. PMID: 30640318
McFarlane MT, Wright T, McCoy B, Snead OC 3rd, Westall CA
Neurology 2020 Feb 11;94(6):e575-e582. Epub 2019 Dec 2 doi: 10.1212/WNL.0000000000008686. PMID: 31792095Free PMC Article
Wright T, Kumarappah A, Stavropoulos A, Reginald A, Buncic JR, Westall CA
Retina 2017 May;37(5):858-866. doi: 10.1097/IAE.0000000000001246. PMID: 27552291
Jonas JB, Mangler B, Decker A, Schlichtenbrede FC
Eye Sci 2014 Mar;29(1):53-4. PMID: 26016067
Willmore LJ, Abelson MB, Ben-Menachem E, Pellock JM, Shields WD
Epilepsia 2009 Feb;50(2):163-73. doi: 10.1111/j.1528-1167.2008.01988.x. PMID: 19230067

Prognosis

Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N
Am J Med Genet A 2022 Oct;188(10):3032-3040. Epub 2022 Jul 25 doi: 10.1002/ajmg.a.62911. PMID: 35876338Free PMC Article
Defenderfer M, Demirayak P, Visscher KM
Neuroimage 2021 Dec 15;245:118737. Epub 2021 Nov 16 doi: 10.1016/j.neuroimage.2021.118737. PMID: 34798232Free PMC Article
McFarlane MT, Wright T, McCoy B, Snead OC 3rd, Westall CA
Neurology 2020 Feb 11;94(6):e575-e582. Epub 2019 Dec 2 doi: 10.1212/WNL.0000000000008686. PMID: 31792095Free PMC Article
Baek J, Lee JH, Lee WK
Graefes Arch Clin Exp Ophthalmol 2019 Sep;257(9):1863-1871. Epub 2019 Jun 20 doi: 10.1007/s00417-019-04388-x. PMID: 31222406
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article

Clinical prediction guides

Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N
Am J Med Genet A 2022 Oct;188(10):3032-3040. Epub 2022 Jul 25 doi: 10.1002/ajmg.a.62911. PMID: 35876338Free PMC Article
McFarlane MT, Wright T, McCoy B, Snead OC 3rd, Westall CA
Neurology 2020 Feb 11;94(6):e575-e582. Epub 2019 Dec 2 doi: 10.1212/WNL.0000000000008686. PMID: 31792095Free PMC Article
Baek J, Lee JH, Lee WK
Graefes Arch Clin Exp Ophthalmol 2019 Sep;257(9):1863-1871. Epub 2019 Jun 20 doi: 10.1007/s00417-019-04388-x. PMID: 31222406
Osaka R, Manabe S, Miyoshi Y, Nakano Y, Yamashita A, Shiragami C, Hirooka K, Muraoka Y, Tsujikawa A
Graefes Arch Clin Exp Ophthalmol 2017 Sep;255(9):1743-1748. Epub 2017 Jul 2 doi: 10.1007/s00417-017-3717-7. PMID: 28669042
Willmore LJ, Abelson MB, Ben-Menachem E, Pellock JM, Shields WD
Epilepsia 2009 Feb;50(2):163-73. doi: 10.1111/j.1528-1167.2008.01988.x. PMID: 19230067

Supplemental Content

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