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Vitelliform macular dystrophy 3(VMD3)

MedGen UID:
979022
•Concept ID:
CN295869
•
Disease or Syndrome
Synonyms: PRPH2 vitelliform macular dystrophy; PRPH2-Related Adult-Onset Vitelliform Macular Dystrophy; vitelliform macular dystrophy caused by mutation in PRPH2; VMD3
 
Gene (location): PRPH2 (6p21.1)
 
Monarch Initiative: MONDO:0024561
OMIM®: 608161

Definition

Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. [from MONDO]

Professional guidelines

PubMed

Bevacizumab treatment for choroidal neovascularization associated with adult-onset foveomacular vitelliform dystrophy.
Tiosano L, Jaouni T, Averbukh E, Grunin M, Banin E, Chowers I
Eur J Ophthalmol 2014 Nov-Dec;24(6):890-6. Epub 2014 May 20 doi: 10.5301/ejo.5000486. PMID: 24846624
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.
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
Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy.
Wabbels B, Preising MN, Kretschmann U, Demmler A, Lorenz B
Graefes Arch Clin Exp Ophthalmol 2006 Nov;244(11):1453-66. Epub 2006 Apr 13 doi: 10.1007/s00417-006-0286-6. PMID: 16612637

Recent clinical studies

Etiology

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y, Georgiou M, Fujinami K, Daich Varela M, Fujinami-Yokokawa Y, Hashem SA, Cabral de Guimaraes TA, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2024 Jul;131(7):845-854. Epub 2024 Jan 24 doi: 10.1016/j.ophtha.2024.01.027. PMID: 38278445
Retinal sensitivity and fundus autofluorescence in adult-onset foveomacular vitelliform dystrophy.
Fujino R, Inoue T, Yanagi Y, Maruyama-Inoue M, Kadonosono K, Obata R, Asaoka R
Sci Rep 2023 Dec 8;13(1):21777. doi: 10.1038/s41598-023-49256-1. PMID: 38066097Free PMC Article
Expanded Clinical Spectrum of Pentosan Polysulfate Maculopathy: A Macula Society Collaborative Study.
Jain N, Liao A, Garg SJ, Patel SN, Wykoff CC, Yu HJ, London NJS, Khurana RN, Zacks DN; Macula Society Pentosan Polysulfate Maculopathy Study Group
Ophthalmol Retina 2022 Mar;6(3):219-227. Epub 2021 Jul 21 doi: 10.1016/j.oret.2021.07.004. PMID: 34298229
Acute exudative polymorphous vitelliform maculopathy.
Pichi F, Ciardella AP, Nucci P
JAMA Ophthalmol 2015 Mar;133(3):e143510. Epub 2015 Mar 12 doi: 10.1001/jamaophthalmol.2014.3510. PMID: 25763552
Adult-onset foveomacular vitelliform dystrophy and indocyanine green videoangiography.
Battaglia Parodi M, Iustulin D, Russo D, Ravalico G
Graefes Arch Clin Exp Ophthalmol 1996 Mar;234(3):208-11. doi: 10.1007/BF00462035. PMID: 8720722

Diagnosis

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y, Georgiou M, Fujinami K, Daich Varela M, Fujinami-Yokokawa Y, Hashem SA, Cabral de Guimaraes TA, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2024 Jul;131(7):845-854. Epub 2024 Jan 24 doi: 10.1016/j.ophtha.2024.01.027. PMID: 38278445
Atypical presentation of Best Disease.
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
Juvenile Macular Degenerations.
Altschwager P, Ambrosio L, Swanson EA, Moskowitz A, Fulton AB
Semin Pediatr Neurol 2017 May;24(2):104-109. Epub 2017 May 23 doi: 10.1016/j.spen.2017.05.005. PMID: 28941524Free PMC Article
Acute exudative polymorphous vitelliform maculopathy.
Pichi F, Ciardella AP, Nucci P
JAMA Ophthalmol 2015 Mar;133(3):e143510. Epub 2015 Mar 12 doi: 10.1001/jamaophthalmol.2014.3510. PMID: 25763552
Best's vitelliform macular dystrophy in 10- and 31-month-old siblings.
Griffith JF, Hess DJ, Berrocal AM
J Pediatr Ophthalmol Strabismus 2014 Mar 4;51 Online:e8-e12. doi: 10.3928/01913913-20140225-01. PMID: 25314311

Therapy

Expanded Clinical Spectrum of Pentosan Polysulfate Maculopathy: A Macula Society Collaborative Study.
Jain N, Liao A, Garg SJ, Patel SN, Wykoff CC, Yu HJ, London NJS, Khurana RN, Zacks DN; Macula Society Pentosan Polysulfate Maculopathy Study Group
Ophthalmol Retina 2022 Mar;6(3):219-227. Epub 2021 Jul 21 doi: 10.1016/j.oret.2021.07.004. PMID: 34298229
Recurrence of SRF Post Intravitreal Ranibizumab for Pediatric Choroidal Neovascularisation Secondary to Best Disease.
Subbiah D, Hashim H, Chew FLM
Ocul Immunol Inflamm 2020 Oct 2;28(7):1149-1151. Epub 2019 Sep 11 doi: 10.1080/09273948.2019.1648834. PMID: 31509457
Multimodal imaging in deferoxamine retinopathy.
Viola F, Barteselli G, DellʼArti L, Vezzola D, Mapelli C, Villani E, Ratiglia R
Retina 2014 Jul;34(7):1428-38. doi: 10.1097/IAE.0000000000000073. PMID: 24378427
Diagnostic and therapeutic challenges.
Ascaso FJ, Rojo M, Minguez E, Cohen SM, Yang SS
Retina 2011 Mar;31(3):616-22. doi: 10.1097/IAE.0b013e3181eac783. PMID: 21336073
Treatment of cystoid macular edema with oral acetazolamide in a patient with best vitelliform macular dystrophy.
Hori K, Ishida S, Inoue M, Shinoda K, Kawashima S, Kitamura S, Oguchi Y
Retina 2004 Jun;24(3):481-2. doi: 10.1097/00006982-200406000-00030. PMID: 15187682

Prognosis

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y, Georgiou M, Fujinami K, Daich Varela M, Fujinami-Yokokawa Y, Hashem SA, Cabral de Guimaraes TA, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2024 Jul;131(7):845-854. Epub 2024 Jan 24 doi: 10.1016/j.ophtha.2024.01.027. PMID: 38278445
Vitelliform maculopathy: Diverse etiologies originating from one common pathway.
Iovino C, Ramtohul P, Au A, Romero-Morales V, Sadda S, Freund KB, Sarraf D
Surv Ophthalmol 2023 May-Jun;68(3):361-379. Epub 2023 Jan 30 doi: 10.1016/j.survophthal.2023.01.009. PMID: 36720370
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY.
Parodi MB, Romano F, Sacconi R, Casati S, Marchini G, Bandello F, Iacono P
Retina 2018 Dec;38(12):2379-2386. doi: 10.1097/IAE.0000000000001893. PMID: 29065010
Acute exudative polymorphous vitelliform maculopathy.
Pichi F, Ciardella AP, Nucci P
JAMA Ophthalmol 2015 Mar;133(3):e143510. Epub 2015 Mar 12 doi: 10.1001/jamaophthalmol.2014.3510. PMID: 25763552

Clinical prediction guides

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y, Georgiou M, Fujinami K, Daich Varela M, Fujinami-Yokokawa Y, Hashem SA, Cabral de Guimaraes TA, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2024 Jul;131(7):845-854. Epub 2024 Jan 24 doi: 10.1016/j.ophtha.2024.01.027. PMID: 38278445
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.
Wang Y, Jiang Y, Li X, Xiao X, Li S, Sun W, Wang P, Zhang Q
Exp Eye Res 2022 Oct;223:109217. Epub 2022 Aug 13 doi: 10.1016/j.exer.2022.109217. PMID: 35973442
Expanded Clinical Spectrum of Pentosan Polysulfate Maculopathy: A Macula Society Collaborative Study.
Jain N, Liao A, Garg SJ, Patel SN, Wykoff CC, Yu HJ, London NJS, Khurana RN, Zacks DN; Macula Society Pentosan Polysulfate Maculopathy Study Group
Ophthalmol Retina 2022 Mar;6(3):219-227. Epub 2021 Jul 21 doi: 10.1016/j.oret.2021.07.004. PMID: 34298229
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Atypical presentation of Best Disease.
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

Recent systematic reviews

Test performance of optical coherence tomography angiography in detecting retinal diseases: a systematic review and meta-analysis.
Faes L, Bodmer NS, Locher S, Keane PA, Balaskas K, Bachmann LM, Schlingemann RO, Schmid MK
Eye (Lond) 2019 Aug;33(8):1327-1338. Epub 2019 Apr 10 doi: 10.1038/s41433-019-0421-3. PMID: 30971815Free PMC Article

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