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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
Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by hair loss followed by progressive macular degeneration and early blindness. Scalp hair is lost during the first months of life, with onset of retinal degeneration and vision loss a few years to 2 decades later (summary by Sprecher et al., 2001 and Indelman et al., 2002).
See: Condition Record
Congenital hypotrichosis with juvenile macular dystrophy

Professional guidelines

PubMed

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.
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
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
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

Mitochondrial Retinopathy.
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
Subretinal Deposits in Pre-eclampsia and Malignant Hypertension: Implications for Age-Related Macular Degeneration.
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
Gender variation in central serous chorioretinopathy.
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
Paraproteinemic maculopathy.
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
Reticular pseudodrusen in age-related macular degeneration.
Hogg RE
Optom Vis Sci 2014 Aug;91(8):854-9. doi: 10.1097/OPX.0000000000000287. PMID: 24950032

Diagnosis

Subretinal autofluorescent deposits: A review and proposal for clinical classification.
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
Mitochondrial Retinopathy.
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
MULTIMODAL IMAGING IN HELLP-RELATED CHORIORETINOPATHY.
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
Subretinal Deposits in Pre-eclampsia and Malignant Hypertension: Implications for Age-Related Macular Degeneration.
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
Reticular pseudodrusen in age-related macular degeneration.
Hogg RE
Optom Vis Sci 2014 Aug;91(8):854-9. doi: 10.1097/OPX.0000000000000287. PMID: 24950032

Therapy

Unusual presentation of cornea verticillata with intravitreal methotrexate in a case of primary intraocular lymphoma.
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
Yellow Subretinal Lesions following Initiation of Antituberculosis Therapy in A Tubercular Choroidal Granuloma: A Sign of Paradoxical Worsening?
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
Bilateral multiple serous retinal detachments after treatment with nivolumab: a case report.
Miyamoto R, Nakashizuka H, Tanaka K, Wakatsuki Y, Onoe H, Mori R, Kawamura A
BMC Ophthalmol 2020 Jun 8;20(1):221. doi: 10.1186/s12886-020-01495-w. PMID: 32513129Free PMC Article
Eplerenone in patients with chronic recurring central serous chorioretinopathy.
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
Foveal function and thickness after verteporfin photodynamic therapy in central serous chorioretinopathy with hyperautofluorescent subretinal deposits.
Pryds A, Larsen M
Retina 2013 Jan;33(1):128-35. doi: 10.1097/IAE.0b013e3182618bc5. PMID: 23269407

Prognosis

Oliver McFarlane syndrome: two new cases and a review of the literature.
Lisbjerg K, Andersen MKG, Bertelsen M, Brost AG, Buchvald FF, Jensen RB, Bisgaard AM, Rosenberg T, Tümer Z, Kessel L
Ophthalmic Genet 2021 Aug;42(4):464-473. Epub 2021 Apr 5 doi: 10.1080/13816810.2021.1904419. PMID: 33818269
Subretinal Deposits in Pre-eclampsia and Malignant Hypertension: Implications for Age-Related Macular Degeneration.
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
SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES OF VITREORETINAL LYMPHOMA IN 55 EYES.
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
Paraproteinemic maculopathy.
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
Reticular pseudodrusen in age-related macular degeneration.
Hogg RE
Optom Vis Sci 2014 Aug;91(8):854-9. doi: 10.1097/OPX.0000000000000287. PMID: 24950032

Clinical prediction guides

Subretinal autofluorescent deposits: A review and proposal for clinical classification.
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
Genetics of reticular pseudodrusen in age-related macular degeneration.
Farashi S, Ansell BRE, Wu Z, Abbott CJ, Pébay A, Fletcher EL, Guymer RH, Bahlo M
Trends Genet 2022 Apr;38(4):312-316. Epub 2022 Jan 31 doi: 10.1016/j.tig.2022.01.003. PMID: 35093239
Subretinal Deposits in Pre-eclampsia and Malignant Hypertension: Implications for Age-Related Macular Degeneration.
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
Paraproteinemic maculopathy.
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
Reticular pseudodrusen in age-related macular degeneration.
Hogg RE
Optom Vis Sci 2014 Aug;91(8):854-9. doi: 10.1097/OPX.0000000000000287. PMID: 24950032

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