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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

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
Nowomiejska K, Nasser F, Stingl K, Schimpf-Linzenbold S, Biskup S, Brzozowska A, Rejdak R, Kohl S, Zrenner E
Acta Ophthalmol 2022 May;100(3):e847-e858. Epub 2021 Jul 29 doi: 10.1111/aos.14958. PMID: 34327816Free PMC Article
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
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

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
Clinical and visual electrophysiological characteristics of vitelliform macular dystrophies in the first decade of life.
Padhy SK, Parameswarappa DC, Agarwal K, Takkar B, Behera S, Panchal B, Ramappa M, Padhi TR, Jalali S
Indian J Ophthalmol 2022 Jul;70(7):2516-2525. doi: 10.4103/ijo.IJO_2186_21. PMID: 35791148Free PMC Article
Optical coherence tomography in Best vitelliform macular dystrophy.
Battaglia Parodi M, Iacono P, Romano F, Bolognesi G, Fasce F, Bandello F
Eur J Ophthalmol 2017 Mar 10;27(2):201-204. Epub 2017 Feb 22 doi: 10.5301/ejo.5000878. PMID: 28233888
PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY.
Scoles D, Sulai YN, Cooper RF, Higgins BP, Johnson RD, Carroll J, Dubra A, Stepien KE
Retina 2017 Apr;37(4):741-748. doi: 10.1097/IAE.0000000000001203. PMID: 27467379Free PMC Article
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY.
Battaglia Parodi M, Sacconi R, Iacono P, Del Turco C, Bandello F
Retina 2016 Apr;36(4):764-9. doi: 10.1097/IAE.0000000000000759. PMID: 26447398

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
Clinical and visual electrophysiological characteristics of vitelliform macular dystrophies in the first decade of life.
Padhy SK, Parameswarappa DC, Agarwal K, Takkar B, Behera S, Panchal B, Ramappa M, Padhi TR, Jalali S
Indian J Ophthalmol 2022 Jul;70(7):2516-2525. doi: 10.4103/ijo.IJO_2186_21. PMID: 35791148Free 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
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
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY.
Battaglia Parodi M, Sacconi R, Iacono P, Del Turco C, Bandello F
Retina 2016 Apr;36(4):764-9. doi: 10.1097/IAE.0000000000000759. PMID: 26447398

Therapy

THE EXPANDING CLINICAL SPECTRUM OF CHOROIDAL EXCAVATION IN MACULAR DYSTROPHIES.
Battaglia Parodi M, Casalino G, Iacono P, Introini U, Adamyan T, Bandello F
Retina 2018 Oct;38(10):2030-2034. doi: 10.1097/IAE.0000000000001805. PMID: 28800018
Best Vitelliform Macular Dystrophy In Afghan Twins.
Kausar A, Akhtar N
J Ayub Med Coll Abbottabad 2016 Apr-Jun;28(2):404-406. PMID: 28718575
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
Photodynamic therapy and vitelliform lesions.
Ergun E, Costa D, Slakter J, Yannuzzi LA, Stur M
Retina 2004 Jun;24(3):399-406. doi: 10.1097/00006982-200406000-00010. PMID: 15187662

Prognosis

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
Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.
Miyagi M, Takeuchi J, Koyanagi Y, Mizobuchi K, Hayashi T, Ito Y, Terasaki H, Nishiguchi KM, Ueno S
Graefes Arch Clin Exp Ophthalmol 2022 Apr;260(4):1125-1137. Epub 2021 Oct 18 doi: 10.1007/s00417-021-05447-y. PMID: 34661736
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
Optical Coherence Tomography Angiography Quantitative Assessment of Macular Neovascularization in Best Vitelliform Macular Dystrophy.
Parodi MB, Arrigo A, Bandello F
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):61. doi: 10.1167/iovs.61.6.61. PMID: 32602906Free 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

Clinical prediction guides

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
Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.
Miyagi M, Takeuchi J, Koyanagi Y, Mizobuchi K, Hayashi T, Ito Y, Terasaki H, Nishiguchi KM, Ueno S
Graefes Arch Clin Exp Ophthalmol 2022 Apr;260(4):1125-1137. Epub 2021 Oct 18 doi: 10.1007/s00417-021-05447-y. PMID: 34661736
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
Clinical manifestations of cuticular drusen in Korean patients.
Shin DH, Kong M, Han G, Han JC, Ham DI
Sci Rep 2020 Jul 10;10(1):11469. doi: 10.1038/s41598-020-68493-2. PMID: 32651454Free PMC Article
PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY.
Scoles D, Sulai YN, Cooper RF, Higgins BP, Johnson RD, Carroll J, Dubra A, Stepien KE
Retina 2017 Apr;37(4):741-748. doi: 10.1097/IAE.0000000000001203. PMID: 27467379Free PMC Article

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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      Clinical tests in GTR
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen

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