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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

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
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
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

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
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
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
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
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

Diagnosis

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
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
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
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
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

Therapy

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
Kausar A, Akhtar N
J Ayub Med Coll Abbottabad 2016 Apr-Jun;28(2):404-406. PMID: 28718575
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
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
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

Lindenberg S, Mahmoudi A, Oncel D, Corradetti G, Oncel D, Emamverdi M, Almidani L, Farahani A, Wakatsuki Y, He Y, Saju M S, Lee WK, Wykoff CC, Sarraf D, Freund KB, Sadda SR
Ophthalmol Retina 2024 Sep;8(9):854-862. Epub 2024 Apr 16 doi: 10.1016/j.oret.2024.04.009. PMID: 38631656
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
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
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
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

Lindenberg S, Mahmoudi A, Oncel D, Corradetti G, Oncel D, Emamverdi M, Almidani L, Farahani A, Wakatsuki Y, He Y, Saju M S, Lee WK, Wykoff CC, Sarraf D, Freund KB, Sadda SR
Ophthalmol Retina 2024 Sep;8(9):854-862. Epub 2024 Apr 16 doi: 10.1016/j.oret.2024.04.009. PMID: 38631656
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
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
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
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

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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