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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
Primary and secondary focal choroidal excavation morphologic phenotypes, associated ocular disorders and prognostic implications.
Capellan P, Gonzalez LA, Abdallah Mahrous M, Weiss SJ, Botsford B, Lenis TL, Ryan M, Orlin A, Papakostas T, Kiss S, D'Amico D, Kovacs K
Br J Ophthalmol 2023 Mar;107(3):373-379. Epub 2021 Oct 16 doi: 10.1136/bjophthalmol-2021-319569. PMID: 34656984
Natural course of adult-onset vitelliform lesions in eyes with and without comorbid subretinal drusenoid deposits.
Wilde C, Awad M, Giannouladis K, Lakshmanan A, Yeung AM, Dua H, Amoaku WMK
Int Ophthalmol 2020 Jun;40(6):1501-1508. Epub 2020 Mar 4 doi: 10.1007/s10792-020-01319-2. PMID: 32130624Free PMC Article
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

Diagnosis

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
Natural course of adult-onset vitelliform lesions in eyes with and without comorbid subretinal drusenoid deposits.
Wilde C, Awad M, Giannouladis K, Lakshmanan A, Yeung AM, Dua H, Amoaku WMK
Int Ophthalmol 2020 Jun;40(6):1501-1508. Epub 2020 Mar 4 doi: 10.1007/s10792-020-01319-2. PMID: 32130624Free PMC Article
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
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
Diagnosis and classification of macular degenerations: an approach based on retinal function testing.
Scullica L, Falsini B
Doc Ophthalmol 2001 May;102(3):237-50. doi: 10.1023/a:1017562532731. PMID: 11556487

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
The role of indocyanine green angiography imaging in further differential diagnosis of patients with nAMD who are morphologically poor responders to ranibizumab in a real-life setting.
Ozkaya A, Alagoz C, Garip R, Alkin Z, Perente I, Yazici AT, Taskapili M
Eye (Lond) 2016 Jul;30(7):958-65. Epub 2016 Apr 15 doi: 10.1038/eye.2016.71. PMID: 27080484Free PMC Article
Clinical findings of acquired vitelliform lesions associated with retinal pigment epithelial detachments.
Saito M, Iida T, Freund KB, Kano M, Yannuzzi LA
Am J Ophthalmol 2014 Feb;157(2):355-365.e2. Epub 2013 Oct 19 doi: 10.1016/j.ajo.2013.10.009. PMID: 24439441
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
Age-related macular degeneration: a perspective on genetic studies.
Patel N, Adewoyin T, Chong NV
Eye (Lond) 2008 Jun;22(6):768-76. Epub 2007 May 11 doi: 10.1038/sj.eye.6702844. PMID: 17491602

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
Primary and secondary focal choroidal excavation morphologic phenotypes, associated ocular disorders and prognostic implications.
Capellan P, Gonzalez LA, Abdallah Mahrous M, Weiss SJ, Botsford B, Lenis TL, Ryan M, Orlin A, Papakostas T, Kiss S, D'Amico D, Kovacs K
Br J Ophthalmol 2023 Mar;107(3):373-379. Epub 2021 Oct 16 doi: 10.1136/bjophthalmol-2021-319569. PMID: 34656984
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
Natural course of adult-onset vitelliform lesions in eyes with and without comorbid subretinal drusenoid deposits.
Wilde C, Awad M, Giannouladis K, Lakshmanan A, Yeung AM, Dua H, Amoaku WMK
Int Ophthalmol 2020 Jun;40(6):1501-1508. Epub 2020 Mar 4 doi: 10.1007/s10792-020-01319-2. PMID: 32130624Free PMC Article
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

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
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
THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION.
Khan KN, Islam F, Moore AT, Michaelides M
Retina 2018 Mar;38(3):606-613. doi: 10.1097/IAE.0000000000001569. PMID: 28225368
Fundus autofluorescence, optical coherence tomography and visual acuity in adult-onset foveomacular dystrophy.
Furino C, Boscia F, Cardascia N, Sborgia L, Sborgia C
Ophthalmologica 2008;222(4):240-4. Epub 2008 May 10 doi: 10.1159/000130427. PMID: 18477856

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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