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Abnormal full-field electroretinogram

MedGen UID:
892525
Concept ID:
C4072956
Finding
HPO: HP:0030466

Conditions with this feature

Occult macular dystrophy
MedGen UID:
462183
Concept ID:
C3150833
Disease or Syndrome
Occult macular dystrophy (OCMD) is characterized by progressive decline of visual acuity in both eyes, associated with a normal fundus and normal fluorescein angiography. Patients have normal full-field electroretinograms (ERGs) but severely reduced focal macular ERGs, as recorded by conventional techniques using small stimuli under background illumination. OCMD patients are believed to have localized retinal dysfunction distal to the ganglion cells in the central retina (summary by Piao et al., 2000).

Professional guidelines

PubMed

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
Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S
Ophthalmic Genet 2011 Jun;32(2):65-74. Epub 2010 Dec 21 doi: 10.3109/13816810.2010.536064. PMID: 21174530
Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE
Retina 2010 Jan;30(1):51-62. doi: 10.1097/IAE.0b013e3181bfe24e. PMID: 19952985

Recent clinical studies

Etiology

McAnany JJ, Park JC, Fishman GA, Collison FT
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):53. doi: 10.1167/iovs.61.6.53. PMID: 32579680Free PMC Article
Park JC, Chau FY, Lim JI, McAnany JJ
Doc Ophthalmol 2019 Oct;139(2):99-111. Epub 2019 Apr 23 doi: 10.1007/s10633-019-09699-2. PMID: 31016437Free PMC Article
Mercado CL, Pham BH, Beres S, Marmor MF, Lambert SR
J AAPOS 2018 Dec;22(6):457-461.e4. Epub 2018 Sep 20 doi: 10.1016/j.jaapos.2018.08.003. PMID: 30243749
Wilsey LJ, Fortune B
Curr Opin Ophthalmol 2016 Mar;27(2):118-24. doi: 10.1097/ICU.0000000000000241. PMID: 26720775Free PMC Article
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ
Ophthalmology 2015 Jan;122(1):180-91. Epub 2014 Sep 26 doi: 10.1016/j.ophtha.2014.07.053. PMID: 25267528

Diagnosis

McAnany JJ, Persidina OS, Park JC
Surv Ophthalmol 2022 May-Jun;67(3):712-722. Epub 2021 Sep 4 doi: 10.1016/j.survophthal.2021.08.011. PMID: 34487740Free PMC Article
Jurkute N, Robson AG
Handb Clin Neurol 2021;178:79-96. doi: 10.1016/B978-0-12-821377-3.00019-2. PMID: 33832688
McAnany JJ, Park JC, Fishman GA, Collison FT
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):53. doi: 10.1167/iovs.61.6.53. PMID: 32579680Free PMC Article
Wilsey LJ, Fortune B
Curr Opin Ophthalmol 2016 Mar;27(2):118-24. doi: 10.1097/ICU.0000000000000241. PMID: 26720775Free PMC Article
Vistamehr S, Walsh TJ, Adelman RA
Semin Ophthalmol 2007 Jul-Sep;22(3):141-6. doi: 10.1080/08820530701457134. PMID: 17763233

Therapy

Lee IO, Skuse DH, Constable PA, Marmolejo-Ramos F, Olsen LR, Thompson DA
J Neurodev Disord 2022 May 6;14(1):30. doi: 10.1186/s11689-022-09440-2. PMID: 35524181Free PMC Article
Faure C, Paques M, Audo I
Doc Ophthalmol 2017 Dec;135(3):241-248. Epub 2017 Sep 12 doi: 10.1007/s10633-017-9612-z. PMID: 28900746
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE
Am J Ophthalmol 2017 May;177:44-57. Epub 2017 Feb 16 doi: 10.1016/j.ajo.2017.02.003. PMID: 28212877
Vistamehr S, Walsh TJ, Adelman RA
Semin Ophthalmol 2007 Jul-Sep;22(3):141-6. doi: 10.1080/08820530701457134. PMID: 17763233
To KW, Thirkill CE, Jakobiec FA, Lessell S, Berson EL
Ophthalmology 2002 Nov;109(11):2149-53. doi: 10.1016/s0161-6420(02)01261-7. PMID: 12414431

Prognosis

McAnany JJ, Persidina OS, Park JC
Surv Ophthalmol 2022 May-Jun;67(3):712-722. Epub 2021 Sep 4 doi: 10.1016/j.survophthal.2021.08.011. PMID: 34487740Free PMC Article
Ji Y, Hu K, Li C, Li P, Kijlstra A, Eghrari AO, Lei B, Du L, Wan W, Yang P
Am J Ophthalmol 2018 Dec;196:121-128. Epub 2018 Sep 6 doi: 10.1016/j.ajo.2018.08.041. PMID: 30194930
Liu G, Liu X, Li H, Du Q, Wang F
Ophthalmic Res 2016;56(3):111-22. Epub 2016 Jun 29 doi: 10.1159/000445063. PMID: 27352292
Wilsey LJ, Fortune B
Curr Opin Ophthalmol 2016 Mar;27(2):118-24. doi: 10.1097/ICU.0000000000000241. PMID: 26720775Free PMC Article
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ
Ophthalmology 2015 Jan;122(1):180-91. Epub 2014 Sep 26 doi: 10.1016/j.ophtha.2014.07.053. PMID: 25267528

Clinical prediction guides

Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini I, Palazzo V, Peluso F, de Baere E, Zeitz C, Leroy BP, Secci J, Bacci GM
Ophthalmic Genet 2023 Apr;44(2):152-162. Epub 2022 Dec 5 doi: 10.1080/13816810.2022.2132514. PMID: 36469668
Aleman TS, O'Neil EC, Uyhazi KE, Parchinski KM, Santos AJ, Weber ML, Colclough SP, Billek AS, Zhu X, Leroy BP, Bedoukian EC
Ophthalmic Genet 2022 Dec;43(6):824-833. Epub 2022 Dec 5 doi: 10.1080/13816810.2022.2147960. PMID: 36469661
Mello LGM, Paraguay IBB, Andrade TS, Rocha AADN, Barbosa ER, Oyamada MK, Monteiro MLR
Parkinsonism Relat Disord 2022 Aug;101:90-95. Epub 2022 Jun 28 doi: 10.1016/j.parkreldis.2022.06.018. PMID: 35810523
McAnany JJ, Persidina OS, Park JC
Surv Ophthalmol 2022 May-Jun;67(3):712-722. Epub 2021 Sep 4 doi: 10.1016/j.survophthal.2021.08.011. PMID: 34487740Free PMC Article
Wilsey LJ, Fortune B
Curr Opin Ophthalmol 2016 Mar;27(2):118-24. doi: 10.1097/ICU.0000000000000241. PMID: 26720775Free PMC Article

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