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Decreased Arden ratio of electrooculogram

MedGen UID:
870279
Concept ID:
C4024720
Finding
Synonym: Decreased Arden ratio of EOG
 
HPO: HP:0008179

Definition

An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased Arden ratio of electrooculogram

Conditions with this feature

Vitelliform macular dystrophy 4
MedGen UID:
863779
Concept ID:
C4015342
Disease or Syndrome
Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). Vitelliform macular dystrophy-4 is characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG) (Meunier et al., 2014). In most families with VMD4 caused by compound heterozygous or homozygous mutations in IMPG1, asymptomatic heterozygous carriers have been found to have fundus changes (Manes et al., 2013; Brandl et al., 2017). Brandl et al. (2017) examined patients VMD4, caused by mutation in the IMPG1 gene, and VMD5 (616152), caused by mutation in the IMPG2 gene, and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above a preserved Bruch membrane/RPE on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations. For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840).

Professional guidelines

PubMed

Heydarian S, Jafari R, Dailami KN, Hashemi H, Jafarzadehpour E, Heirani M, Yekta A, Mahjoob M, Khabazkhoob M
Int Ophthalmol 2020 Feb;40(2):511-527. Epub 2019 Oct 10 doi: 10.1007/s10792-019-01189-3. PMID: 31602527
Booij JC, Boon CJ, van Schooneveld MJ, ten Brink JB, Bakker A, de Jong PT, Hoyng CB, Bergen AA, Klaver CC
Ophthalmology 2010 Jul;117(7):1415-22. Epub 2010 Apr 9 doi: 10.1016/j.ophtha.2009.11.044. PMID: 20381869
Kaschka WP, Mokrusch T, Korth M
Pharmacopsychiatry 1987 Sep;20(5):203-7. doi: 10.1055/s-2007-1017104. PMID: 3671489

Recent clinical studies

Etiology

Khan AO, Ghazi NG
Ophthalmic Genet 2022 Aug;43(4):476-480. Epub 2022 Mar 21 doi: 10.1080/13816810.2022.2053994. PMID: 35311463
Boulanger-Scemama E, Sahel JA, Mohand-Said S, Antonio A, Condroyer C, Zeitz C, Audo I
Retina 2019 May;39(5):867-878. doi: 10.1097/IAE.0000000000002041. PMID: 29370033
Meunier I, Sénéchal A, Dhaenens CM, Arndt C, Puech B, Defoort-Dhellemmes S, Manes G, Chazalette D, Mazoir E, Bocquet B, Hamel CP
Ophthalmology 2011 Jun;118(6):1130-6. Epub 2011 Jan 26 doi: 10.1016/j.ophtha.2010.10.010. PMID: 21269699
Booij JC, Boon CJ, van Schooneveld MJ, ten Brink JB, Bakker A, de Jong PT, Hoyng CB, Bergen AA, Klaver CC
Ophthalmology 2010 Jul;117(7):1415-22. Epub 2010 Apr 9 doi: 10.1016/j.ophtha.2009.11.044. PMID: 20381869
Oner A, Karakucuk S, Mirza E, Erkilic K
Doc Ophthalmol 2005 Sep;111(2):83-6. Epub 2006 Mar 2 doi: 10.1007/s10633-005-4410-4. PMID: 16514489

Diagnosis

Huryn LA, Kozycki CT, Serpen JY, Zein WM, Ullah E, Iannaccone A, Williams LB, Sobrin L, Brooks BP, Sen HN, Hufnagel RB, Kastner DL, Kodati S
Ophthalmology 2023 Apr;130(4):423-432. Epub 2022 Nov 2 doi: 10.1016/j.ophtha.2022.10.026. PMID: 36332842Free PMC Article
Khan AO, Ghazi NG
Ophthalmic Genet 2022 Aug;43(4):476-480. Epub 2022 Mar 21 doi: 10.1080/13816810.2022.2053994. PMID: 35311463
Heydarian S, Jafari R, Dailami KN, Hashemi H, Jafarzadehpour E, Heirani M, Yekta A, Mahjoob M, Khabazkhoob M
Int Ophthalmol 2020 Feb;40(2):511-527. Epub 2019 Oct 10 doi: 10.1007/s10792-019-01189-3. PMID: 31602527
Gutiérrez-Montero Ó, Reche-Sainz JA, Peral Ortiz de la Torre MJ, Toledano-Fernández N
Arch Soc Esp Oftalmol (Engl Ed) 2018 Sep;93(9):454-457. Epub 2018 May 28 doi: 10.1016/j.oftal.2018.03.006. PMID: 29853419
Vistamehr S, Walsh TJ, Adelman RA
Semin Ophthalmol 2007 Jul-Sep;22(3):141-6. doi: 10.1080/08820530701457134. PMID: 17763233

Therapy

Shih CH, Lee YC
Medicine (Baltimore) 2018 Jun;97(26):e11229. doi: 10.1097/MD.0000000000011229. PMID: 29952984Free PMC Article
Vistamehr S, Walsh TJ, Adelman RA
Semin Ophthalmol 2007 Jul-Sep;22(3):141-6. doi: 10.1080/08820530701457134. PMID: 17763233
Oner A, Karakucuk S, Mirza E, Erkilic K
Doc Ophthalmol 2005 Sep;111(2):83-6. Epub 2006 Mar 2 doi: 10.1007/s10633-005-4410-4. PMID: 16514489
Lüke C, Alteheld N, Aisenbrey S, Lüke M, Bartz-Schmidt KU, Walter P, Kirchhof B
Graefes Arch Clin Exp Ophthalmol 2003 Sep;241(9):710-5. Epub 2003 Aug 23 doi: 10.1007/s00417-003-0709-6. PMID: 12937992

Prognosis

Boulanger-Scemama E, Sahel JA, Mohand-Said S, Antonio A, Condroyer C, Zeitz C, Audo I
Retina 2019 May;39(5):867-878. doi: 10.1097/IAE.0000000000002041. PMID: 29370033
Shih CH, Lee YC
Medicine (Baltimore) 2018 Jun;97(26):e11229. doi: 10.1097/MD.0000000000011229. PMID: 29952984Free PMC Article
Booij JC, Boon CJ, van Schooneveld MJ, ten Brink JB, Bakker A, de Jong PT, Hoyng CB, Bergen AA, Klaver CC
Ophthalmology 2010 Jul;117(7):1415-22. Epub 2010 Apr 9 doi: 10.1016/j.ophtha.2009.11.044. PMID: 20381869
Oner A, Karakucuk S, Mirza E, Erkilic K
Doc Ophthalmol 2005 Sep;111(2):83-6. Epub 2006 Mar 2 doi: 10.1007/s10633-005-4410-4. PMID: 16514489
Dabov S, Goutoranov G, Ivanova R, Petkova N
Acupunct Electrother Res 1985;10(1-2):79-93. doi: 10.3727/036012985816714577. PMID: 2861724

Clinical prediction guides

Huryn LA, Kozycki CT, Serpen JY, Zein WM, Ullah E, Iannaccone A, Williams LB, Sobrin L, Brooks BP, Sen HN, Hufnagel RB, Kastner DL, Kodati S
Ophthalmology 2023 Apr;130(4):423-432. Epub 2022 Nov 2 doi: 10.1016/j.ophtha.2022.10.026. PMID: 36332842Free PMC Article
Gutiérrez-Montero Ó, Reche-Sainz JA, Peral Ortiz de la Torre MJ, Toledano-Fernández N
Arch Soc Esp Oftalmol (Engl Ed) 2018 Sep;93(9):454-457. Epub 2018 May 28 doi: 10.1016/j.oftal.2018.03.006. PMID: 29853419
Thavikulwat AT, Lopez P, Caruso RC, Jeffrey BG
Doc Ophthalmol 2015 Dec;131(3):177-88. Epub 2015 Oct 16 doi: 10.1007/s10633-015-9514-x. PMID: 26474906Free PMC Article
Huang S, Wu L, Wen F, Luo G, Jiang F
Eye Sci 2014 Sep;29(3):165-9. PMID: 26011973
Dabov S, Goutoranov G, Ivanova R, Petkova N
Acupunct Electrother Res 1985;10(1-2):79-93. doi: 10.3727/036012985816714577. PMID: 2861724

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