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Adult-onset foveomacular vitelliform dystrophy(AOFMD; VMD3; AVMD)

MedGen UID:
334280
Concept ID:
C1842914
Disease or Syndrome
Synonyms: Adult onset vitelliform dystrophy; FOVEOMACULAR DYSTROPHY, ADULT-ONSET; FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION; Macular dystrophy, vitelliform, adult-onset
SNOMED CT: Adult vitelliform macular dystrophy (232049001); Adult-onset foveomacular dystrophy (232049001); AOFMD - adult-onset foveomacular dystrophy (232049001); AVMD - adult vitelliform macular dystrophy (232049001); Gass disease (232049001); Pseudo-Best disease (232049001); Pseudo-vitelliform macular dystrophy (232049001); Adult-onset vitelliform macular dystrophy (232049001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related genes: IMPG2, PRPH2, IMPG1
 
Monarch Initiative: MONDO:0011979
OMIM®: 179605; 608161
Orphanet: ORPHA99000

Definition

Adult-onset foveomacular vitelliform dystrophy, also known as adult vitelliform macular dystrophy, adult-type foveomacular dystrophy, adult vitelliform macular degeneration, pseudovitelliform macular degeneration, and adult-onset foveomacular pigment epithelial dystrophy, is characterized by a solitary, oval, slightly elevated yellowish subretinal lesion of the fovea that is similar in appearance to the vitelliform or egg-yolk stage of Best disease (153700). Initially the yellow lesion may be present in only one eye. The size is generally one-third to one disc diameter, and small yellow flecks are seen in the paracentral lesion. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted decrease of visual acuity and mild metamorphopsia. Electrooculographic testing reveals a normal or only slightly reduced Arden ratio, which is intensely abnormal in Best disease. The prognosis is optimistic, as most patients retain reading vision throughout life (Felbor et al., 1997; Yamaguchi et al., 2001). For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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 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.  https://medlineplus.gov/genetics/condition/vitelliform-macular-dystrophy

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Color vision defect
MedGen UID:
115964
Concept ID:
C0234629
Finding
An anomaly in the ability to discriminate between or recognize colors.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Metamorphopsia
MedGen UID:
75739
Concept ID:
C0271185
Sign or Symptom
A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Choroidal neovascularization
MedGen UID:
154726
Concept ID:
C0600518
Pathologic Function
Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
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.
Drusen
MedGen UID:
488956
Concept ID:
C1260959
Finding
Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Adult-onset foveomacular vitelliform dystrophy in Orphanet.

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

Curated

Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD
Eur J Hum Genet 2012 May;20(5) Epub 2012 Jan 11 doi: 10.1038/ejhg.2011.251. PMID: 22234150Free PMC Article

Recent clinical studies

Etiology

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
Shmueli O, Lender R, Shwartz Y, Chowers I, Tiosano L
Int Ophthalmol 2023 Sep;43(9):3107-3113. Epub 2023 Apr 17 doi: 10.1007/s10792-023-02710-5. PMID: 37067692
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:91-96. doi: 10.1007/978-3-319-95046-4_17. PMID: 30578490
Mimoun G, Caillaux V, Querques G, Rothschild PR, Puche N, Souied EH
Retina 2013 Mar;33(3):513-21. doi: 10.1097/IAE.0b013e3182753adb. PMID: 23400081
Do P, Ferrucci S
Optometry 2006 Apr;77(4):156-66. doi: 10.1016/j.optm.2006.01.020. PMID: 16567277

Diagnosis

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
Shmueli O, Lender R, Shwartz Y, Chowers I, Tiosano L
Int Ophthalmol 2023 Sep;43(9):3107-3113. Epub 2023 Apr 17 doi: 10.1007/s10792-023-02710-5. PMID: 37067692
Chowers I, Tiosano L, Audo I, Grunin M, Boon CJ
Prog Retin Eye Res 2015 Jul;47:64-85. Epub 2015 Feb 11 doi: 10.1016/j.preteyeres.2015.02.001. PMID: 25681578
Mimoun G, Caillaux V, Querques G, Rothschild PR, Puche N, Souied EH
Retina 2013 Mar;33(3):513-21. doi: 10.1097/IAE.0b013e3182753adb. PMID: 23400081
Do P, Ferrucci S
Optometry 2006 Apr;77(4):156-66. doi: 10.1016/j.optm.2006.01.020. PMID: 16567277

Therapy

Sodi A, Mucciolo DP, Giorgio D, Passerini I, Pacini B, Bruschi M, Verdina T, Virgili G, Giansanti F, Murro V
Ophthalmic Genet 2021 Oct;42(5):577-587. Epub 2021 Jul 9 doi: 10.1080/13816810.2021.1938140. PMID: 34240658
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
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
Mimoun G, Caillaux V, Querques G, Rothschild PR, Puche N, Souied EH
Retina 2013 Mar;33(3):513-21. doi: 10.1097/IAE.0b013e3182753adb. PMID: 23400081
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

Nipp GE, Sarici K, Lee T, Hadziahmetovic M
Ophthalmol Retina 2024 Aug;8(8):804-812. Epub 2024 Mar 8 doi: 10.1016/j.oret.2024.03.004. PMID: 38461930
Joshi KM, Nesper PL, Fawzi AA, Mirza RG
Retina 2018 Mar;38(3):600-605. doi: 10.1097/IAE.0000000000001565. PMID: 28198786
Tiosano L, Grunin M, Hagbi-Levi S, Banin E, Averbukh E, Chowers I
Br J Ophthalmol 2016 Nov;100(11):1476-1481. Epub 2016 Jan 22 doi: 10.1136/bjophthalmol-2015-307658. PMID: 26802173
Mimoun G, Caillaux V, Querques G, Rothschild PR, Puche N, Souied EH
Retina 2013 Mar;33(3):513-21. doi: 10.1097/IAE.0b013e3182753adb. PMID: 23400081
Do P, Ferrucci S
Optometry 2006 Apr;77(4):156-66. doi: 10.1016/j.optm.2006.01.020. PMID: 16567277

Clinical prediction guides

Jaskoll S, Kramer A, Elbaz-Hayoun S, Rinsky B, Eandi CM, Grunin M, Shwartz Y, Tiosano L, Heid IM, Winkler T, Chowers I
Invest Ophthalmol Vis Sci 2024 Nov 4;65(13):53. doi: 10.1167/iovs.65.13.53. PMID: 39585675Free PMC Article
Nipp GE, Sarici K, Lee T, Hadziahmetovic M
Ophthalmol Retina 2024 Aug;8(8):804-812. Epub 2024 Mar 8 doi: 10.1016/j.oret.2024.03.004. PMID: 38461930
Akarsu Acar OP, Onur IU, Kaya FS, Demirayak B, Yigit FU
Photodiagnosis Photodyn Ther 2020 Dec;32:102053. Epub 2020 Oct 13 doi: 10.1016/j.pdpdt.2020.102053. PMID: 33065305
Querques G, Zambrowski O, Corvi F, Miere A, Semoun O, Srour M, Souied EH
Br J Ophthalmol 2016 Dec;100(12):1724-1730. Epub 2016 Mar 7 doi: 10.1136/bjophthalmol-2016-308370. PMID: 26951771
Da Pozzo S, Parodi MB, Toto L, Ravalico G
Ophthalmologica 2001 Nov-Dec;215(6):412-4. doi: 10.1159/000050899. PMID: 11741106

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • EuroGentest, 2012
      Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

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