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Subretinal deposits

MedGen UID:
1613321
Concept ID:
C4531024
Finding
HPO: HP:0031528

Definition

Deposits accumulating between the outer retina and the retinal pigment epithelium. [from HPO]

Conditions with this feature

Congenital hypotrichosis with juvenile macular dystrophy
MedGen UID:
316921
Concept ID:
C1832162
Disease or Syndrome
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

Professional guidelines

PubMed

Li RTH, Roman AJ, Sumaroka A, Stanton CM, Swider M, Garafalo AV, Heon E, Vincent A, Wright AF, Megaw R, Aleman TS, Browning AC, Dhillon B, Cideciyan AV
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):33. doi: 10.1167/iovs.64.15.33. PMID: 38133503Free PMC Article
Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ
Ophthalmology 2013 Apr;120(4):809-20. Epub 2013 Jan 3 doi: 10.1016/j.ophtha.2012.09.057. PMID: 23290749

Recent clinical studies

Etiology

Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Otero-Marquez O, Chung H, Lee CS, Choi EY, Ledesma-Gil G, Alauddin S, Lee M, Bhuiyan A, Smith RT
Ophthalmol Retina 2021 Aug;5(8):750-760. Epub 2020 Oct 28 doi: 10.1016/j.oret.2020.10.018. PMID: 33130003
Hanumunthadu D, Van Dijk EHC, Gangakhedkar S, Goud A, Cheung CMG, Cherfan D, Sarvaiya C, Banker A, Meyerle C, Boon CJ, Singh R, Wu L, Chhablani J
Eye (Lond) 2018 Nov;32(11):1703-1709. Epub 2018 Jul 9 doi: 10.1038/s41433-018-0163-7. PMID: 29988073Free PMC Article
Mansour AM, Arevalo JF, Badal J, Moorthy RS, Shah GK, Zegarra H, Pulido JS, Charbaji A, Amselem L, Lavaque AJ, Casella A, Ahmad B, Paschall JG, Caimi A, Staurenghi G
Ophthalmology 2014 Oct;121(10):1925-32. Epub 2014 Jun 18 doi: 10.1016/j.ophtha.2014.04.007. PMID: 24950591
Hogg RE
Optom Vis Sci 2014 Aug;91(8):854-9. doi: 10.1097/OPX.0000000000000287. PMID: 24950032

Diagnosis

Cohen SY, Chowers I, Nghiem-Buffet S, Mrejen S, Souied E, Gaudric A
Surv Ophthalmol 2023 Nov-Dec;68(6):1050-1070. Epub 2023 Jun 29 doi: 10.1016/j.survophthal.2023.06.009. PMID: 37392968
Chen H, Zhang Y, Dai R
JAMA Ophthalmol 2023 May 1;141(5):e230082. Epub 2023 May 18 doi: 10.1001/jamaophthalmol.2023.0082. PMID: 37199811
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Van Rysselberge C, Balikova I, Judice L, Makhoul D, Postelmans L
Retin Cases Brief Rep 2022 May 1;16(3):333-337. Epub 2020 Feb 4 doi: 10.1097/ICB.0000000000000970. PMID: 32028449
Otero-Marquez O, Chung H, Lee CS, Choi EY, Ledesma-Gil G, Alauddin S, Lee M, Bhuiyan A, Smith RT
Ophthalmol Retina 2021 Aug;5(8):750-760. Epub 2020 Oct 28 doi: 10.1016/j.oret.2020.10.018. PMID: 33130003

Therapy

Hasan N, Narde HK, Das AK, Chawla R
BMJ Case Rep 2022 Jan 13;15(1) doi: 10.1136/bcr-2021-246911. PMID: 35027386Free PMC Article
Arora A, Katoch D, Jain S, Singh SR, Gupta V
Ocul Immunol Inflamm 2022 Jan 2;30(1):29-33. Epub 2020 Aug 12 doi: 10.1080/09273948.2020.1780272. PMID: 32783681
Leisser C, Hirnschall N, Hackl C, Plasenzotti P, Findl O
Eur J Ophthalmol 2016 Aug 4;26(5):479-84. Epub 2015 Dec 17 doi: 10.5301/ejo.5000727. PMID: 26692062
Nakayama M, Iejima D, Akahori M, Kamei J, Goto A, Iwata T
Invest Ophthalmol Vis Sci 2014 Sep 9;55(10):6514-23. doi: 10.1167/iovs.14-14453. PMID: 25205867
Pryds A, Larsen M
Retina 2013 Jan;33(1):128-35. doi: 10.1097/IAE.0b013e3182618bc5. PMID: 23269407

Prognosis

Otero-Marquez O, Chung H, Lee CS, Choi EY, Ledesma-Gil G, Alauddin S, Lee M, Bhuiyan A, Smith RT
Ophthalmol Retina 2021 Aug;5(8):750-760. Epub 2020 Oct 28 doi: 10.1016/j.oret.2020.10.018. PMID: 33130003
Yang X, Dalvin LA, Mazloumi M, Ferenczy S, Lim LS, Ancona-Lezama D, Shields JA, Mashayekhi A, Shields CL
Retina 2021 Feb 1;41(2):249-258. doi: 10.1097/IAE.0000000000002819. PMID: 32349103
Ciccone L, Lee W, Zernant J, Tanaka K, Schuerch K, Tsang SH, Allikmets R
Retina 2018 Nov;38(11):2214-2219. doi: 10.1097/IAE.0000000000001841. PMID: 29028687Free PMC Article
Mansour AM, Arevalo JF, Badal J, Moorthy RS, Shah GK, Zegarra H, Pulido JS, Charbaji A, Amselem L, Lavaque AJ, Casella A, Ahmad B, Paschall JG, Caimi A, Staurenghi G
Ophthalmology 2014 Oct;121(10):1925-32. Epub 2014 Jun 18 doi: 10.1016/j.ophtha.2014.04.007. PMID: 24950591
Hogg RE
Optom Vis Sci 2014 Aug;91(8):854-9. doi: 10.1097/OPX.0000000000000287. PMID: 24950032

Clinical prediction guides

Cohen SY, Chowers I, Nghiem-Buffet S, Mrejen S, Souied E, Gaudric A
Surv Ophthalmol 2023 Nov-Dec;68(6):1050-1070. Epub 2023 Jun 29 doi: 10.1016/j.survophthal.2023.06.009. PMID: 37392968
Otero-Marquez O, Chung H, Lee CS, Choi EY, Ledesma-Gil G, Alauddin S, Lee M, Bhuiyan A, Smith RT
Ophthalmol Retina 2021 Aug;5(8):750-760. Epub 2020 Oct 28 doi: 10.1016/j.oret.2020.10.018. PMID: 33130003
Yang X, Dalvin LA, Mazloumi M, Ferenczy S, Lim LS, Ancona-Lezama D, Shields JA, Mashayekhi A, Shields CL
Retina 2021 Feb 1;41(2):249-258. doi: 10.1097/IAE.0000000000002819. PMID: 32349103
Mansour AM, Arevalo JF, Badal J, Moorthy RS, Shah GK, Zegarra H, Pulido JS, Charbaji A, Amselem L, Lavaque AJ, Casella A, Ahmad B, Paschall JG, Caimi A, Staurenghi G
Ophthalmology 2014 Oct;121(10):1925-32. Epub 2014 Jun 18 doi: 10.1016/j.ophtha.2014.04.007. PMID: 24950591
Hogg RE
Optom Vis Sci 2014 Aug;91(8):854-9. doi: 10.1097/OPX.0000000000000287. PMID: 24950032

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