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Vitelliform macular dystrophy(VMD)

MedGen UID:
137920
Concept ID:
C0339510
Disease or Syndrome
Synonyms: Vitelliform dystrophy; VMD
 
Related genes: IMPG2, PRPH2, IMPG1
 
Monarch Initiative: MONDO:0000390
OMIM® Phenotypic series: PS153840

Definition

Vitelliform macular dystrophy is a genetic eye disorder that can cause worsening (progressive) vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.

Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the age at which symptoms begin and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.

Vitelliform macular dystrophy causes a fatty yellow pigment (called lipofuscin) to build up in cells underlying the macula. Over time, large amounts of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night. [from MedlinePlus Genetics]

Professional guidelines

PubMed

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
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
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

Parodi MB, Arrigo A, Calamuneri A, Aragona E, Bandello F
Br J Ophthalmol 2022 Apr;106(4):564-567. Epub 2020 Dec 8 doi: 10.1136/bjophthalmol-2020-317635. PMID: 33293267
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
Battaglia Parodi M, Castellino N, Iacono P, Chowers I, Empeslidis T, Goldstein M, Bandello F
Retina 2018 Apr;38(4):841-848. doi: 10.1097/IAE.0000000000001600. PMID: 28301340
Spaide RF, Noble K, Morgan A, Freund KB
Ophthalmology 2006 Aug;113(8):1392-400. doi: 10.1016/j.ophtha.2006.03.023. PMID: 16877078

Diagnosis

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
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
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
Katz MS, Walsh EK, Medow NB
JAMA Ophthalmol 2014 Sep;132(9):1098. doi: 10.1001/jamaophthalmol.2013.4265. PMID: 24993383
Spaide RF, Noble K, Morgan A, Freund KB
Ophthalmology 2006 Aug;113(8):1392-400. doi: 10.1016/j.ophtha.2006.03.023. PMID: 16877078

Therapy

Parodi MB, Iacono P, Da Pozzo S
Curr Drug Targets 2020;21(12):1201-1207. doi: 10.2174/1389450121666200428103334. PMID: 32342816
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
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
Kausar A, Akhtar N
J Ayub Med Coll Abbottabad 2016 Apr-Jun;28(2):404-406. PMID: 28718575

Prognosis

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
Vázquez-Domínguez I, Li CHZ, Fadaie Z, Haer-Wigman L, Cremers FPM, Garanto A, Hoyng CB, Roosing S
Invest Ophthalmol Vis Sci 2022 May 2;63(5):27. doi: 10.1167/iovs.63.5.27. PMID: 35608844Free 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
Romano F, Arrigo A, Leone PP, Bandello F, Battaglia Parodi M
Retina 2021 May 1;41(5):1010-1017. doi: 10.1097/IAE.0000000000002977. PMID: 32925562
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

Clinical prediction guides

Parodi MB, Arrigo A, Calamuneri A, Aragona E, Bandello F
Br J Ophthalmol 2022 Apr;106(4):564-567. Epub 2020 Dec 8 doi: 10.1136/bjophthalmol-2020-317635. PMID: 33293267
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
Arora R, Khan K, Kasilian ML, Strauss RW, Holder GE, Robson AG, Thompson DA, Moore AT, Michaelides M
Am J Ophthalmol 2016 Sep;169:24-32. Epub 2016 Jun 7 doi: 10.1016/j.ajo.2016.05.024. PMID: 27287821Free PMC Article
Spaide RF, Noble K, Morgan A, Freund KB
Ophthalmology 2006 Aug;113(8):1392-400. doi: 10.1016/j.ophtha.2006.03.023. PMID: 16877078

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