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Vitelliform macular dystrophy 1(VMD1)

MedGen UID:
1636950
Concept ID:
C4551953
Disease or Syndrome
Synonyms: Macular dystrophy, atypical vitelliform; VMD1
 
Monarch Initiative: MONDO:0007933
OMIM®: 153840

Definition

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). In contrast to typical VMD (see 153700), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals (Hittner et al., 1984). Genetic Heterogeneity of Vitelliform Macular Dystrophy See also vitelliform macular dystrophy-2 (VMD2; 153700), caused by mutation in the BEST1 gene (607854) on chromosome 11q12; VMD3 (608161), caused by mutation in the PRPH2 gene (179605) on chromosome 6p21; VMD4 (616151), caused by mutation in the IMPG1 gene (602870) on chromosome 6q14; and VMD5 (616152), caused by mutation in the IMPG2 gene (607056) on chromosome 3q12. [from OMIM]

Clinical features

From HPO
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Macular dystrophy
MedGen UID:
196451
Concept ID:
C0730292
Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Visual field defect
MedGen UID:
854603
Concept ID:
C3887875
Finding
An absolute or relative reduction in the extent of the normal field of vision.
Vitelliform-like macular lesions
MedGen UID:
892486
Concept ID:
C4024817
Finding
Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.

Professional guidelines

PubMed

Beryozkin A, Sher I, Ehrenberg M, Zur D, Newman H, Gradstein L, Simaan F, Rotenstreich Y, Goldenberg-Cohen N, Bahar I, Blumenfeld A, Rivera A, Rosin B, Deitch-Harel I, Perlman I, Mechoulam H, Chowers I, Leibu R, Ben-Yosef T, Pras E, Banin E, Sharon D, Khateb S
Invest Ophthalmol Vis Sci 2024 Feb 1;65(2):39. doi: 10.1167/iovs.65.2.39. PMID: 38411968Free PMC Article
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
Bitner H, Schatz P, Mizrahi-Meissonnier L, Sharon D, Rosenberg T
Am J Ophthalmol 2012 Aug;154(2):403-412.e4. Epub 2012 May 24 doi: 10.1016/j.ajo.2012.02.036. PMID: 22633354

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
Coussa RG, Binkley EM, Wilkinson ME, Andorf JL, Tucker BA, Mullins RF, Sohn EH, Yannuzzi LA, Stone EM, Han IC
Br J Ophthalmol 2022 Apr;106(4):522-527. Epub 2020 Nov 26 doi: 10.1136/bjophthalmol-2020-317763. PMID: 33243830
Amoroso F, Mrejen S, Pedinielli A, Tabary S, Souied EH, Gaudric A, Cohen SY
Retina 2021 Jan 1;41(1):82-92. doi: 10.1097/IAE.0000000000002806. PMID: 32251237
Wightman AJ, Guymer RH
Clin Exp Optom 2019 Sep;102(5):455-462. Epub 2018 Oct 8 doi: 10.1111/cxo.12842. PMID: 30298528
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
Bianco L, Arrigo A, Antropoli A, Berni A, Saladino A, Vilela MA, Mansour AM, Bandello F, Battaglia Parodi M
Eur J Ophthalmol 2024 Jan;34(1):39-51. Epub 2023 Mar 27 doi: 10.1177/11206721231166434. PMID: 36972471Free PMC Article
Coussa RG, Binkley EM, Wilkinson ME, Andorf JL, Tucker BA, Mullins RF, Sohn EH, Yannuzzi LA, Stone EM, Han IC
Br J Ophthalmol 2022 Apr;106(4):522-527. Epub 2020 Nov 26 doi: 10.1136/bjophthalmol-2020-317763. PMID: 33243830
Amoroso F, Mrejen S, Pedinielli A, Tabary S, Souied EH, Gaudric A, Cohen SY
Retina 2021 Jan 1;41(1):82-92. doi: 10.1097/IAE.0000000000002806. PMID: 32251237
Blodi CF, Stone EM
Ophthalmic Paediatr Genet 1990 Mar;11(1):49-59. PMID: 2190134

Therapy

Coleman DJ, Lee W, Chang S, Silverman RH, Lloyd HO, Daly S, Tsang SH
Ophthalmologica 2018;240(1):45-54. Epub 2018 Apr 25 doi: 10.1159/000486105. PMID: 29694963Free PMC Article
Ozkaya A, Garip R, Nur Tarakcioglu H, Alkin Z, Taskapili M
J Fr Ophtalmol 2018 Jan;41(1):21-29. Epub 2017 Nov 28 doi: 10.1016/j.jfo.2017.06.009. PMID: 29195727
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
Liu J, Xuan Y, Zhang Y, Liu W, Xu G
Ophthalmic Genet 2017 Jan-Feb;38(1):79-82. Epub 2016 Mar 31 doi: 10.3109/13816810.2015.1126614. PMID: 27031371
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

Prognosis

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
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
Amoroso F, Mrejen S, Pedinielli A, Tabary S, Souied EH, Gaudric A, Cohen SY
Retina 2021 Jan 1;41(1):82-92. doi: 10.1097/IAE.0000000000002806. PMID: 32251237
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
Blodi CF, Stone EM
Ophthalmic Paediatr Genet 1990 Mar;11(1):49-59. PMID: 2190134

Clinical prediction guides

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
Battaglia Parodi M, Bianco L, Arrigo A, Saladino A, Antropoli A, Pina A, Marchese A, Aragona E, Rashid HF, Bandello F
Transl Vis Sci Technol 2022 Sep 1;11(9):24. doi: 10.1167/tvst.11.9.24. PMID: 36156730Free PMC Article
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
Guziewicz KE, McTish E, Dufour VL, Zorych K, Dhingra A, Boesze-Battaglia K, Aguirre GD
Adv Exp Med Biol 2018;1074:309-315. doi: 10.1007/978-3-319-75402-4_38. PMID: 29721958Free PMC Article
Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI
Prog Retin Eye Res 2009 May;28(3):187-205. Epub 2009 Apr 16 doi: 10.1016/j.preteyeres.2009.04.002. PMID: 19375515

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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