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Stargardt disease 3(STGD3)

MedGen UID:
333146
Concept ID:
C1838644
Disease or Syndrome
Synonyms: MACULAR DYSTROPHY WITH FLECKS, TYPE 3; STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT
 
Gene (location): ELOVL4 (6q14.1)
 
Monarch Initiative: MONDO:0010819
OMIM®: 600110

Definition

Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects (Bernstein et al., 2001; Maugeri et al., 2004). [from OMIM]

Additional description

From MedlinePlus Genetics
Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for the type of vision needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment called lipofuscin builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear vision. People with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.  https://medlineplus.gov/genetics/condition/stargardt-macular-degeneration

Clinical features

From HPO
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
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.
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.
Macular flecks
MedGen UID:
868911
Concept ID:
C4023322
Finding
Pale often indistinct lesions of the macula.

Recent clinical studies

Etiology

Honzíková T, Agbaga MP, Anderson RE, Brush R, Ahmad M, Musílková L, Šejstalová K, Alishevich K, Beneš R, Šimicová P, Berčíková M, Filip V, Kyselka J
J Agric Food Chem 2023 Nov 22;71(46):17909-17923. Epub 2023 Nov 10 doi: 10.1021/acs.jafc.3c05355. PMID: 37947776Free PMC Article
Choi R, Gorusupudi A, Bernstein PS
Ophthalmic Genet 2018 Jun;39(3):307-313. Epub 2018 Jan 29 doi: 10.1080/13816810.2018.1430240. PMID: 29377748Free PMC Article
Ritter M, Zotter S, Schmidt WM, Bittner RE, Deak GG, Pircher M, Sacu S, Hitzenberger CK, Schmidt-Erfurth UM; Macula Study Group Vienna
Invest Ophthalmol Vis Sci 2013 Sep 27;54(9):6416-25. doi: 10.1167/iovs.12-11550. PMID: 23882696
McMahon A, Butovich IA, Kedzierski W
J Lipid Res 2011 Jun;52(6):1128-1138. Epub 2011 Mar 22 doi: 10.1194/jlr.M014415. PMID: 21429867Free PMC Article

Diagnosis

Donato L, Scimone C, Rinaldi C, Aragona P, Briuglia S, D'Ascola A, D'Angelo R, Sidoti A
Invest Ophthalmol Vis Sci 2018 Feb 1;59(2):843-857. doi: 10.1167/iovs.17-22962. PMID: 29417145
Kuny S, Cho WJ, Dimopoulos IS, Sauvé Y
Invest Ophthalmol Vis Sci 2015 Nov;56(12):7109-21. doi: 10.1167/iovs.15-17567. PMID: 26529045
Ritter M, Zotter S, Schmidt WM, Bittner RE, Deak GG, Pircher M, Sacu S, Hitzenberger CK, Schmidt-Erfurth UM; Macula Study Group Vienna
Invest Ophthalmol Vis Sci 2013 Sep 27;54(9):6416-25. doi: 10.1167/iovs.12-11550. PMID: 23882696
Frainer RH, Abreu LB, Pinto GM, Carvalho AV, Meneghello LP
An Bras Dermatol 2013 Jan-Feb;88(1):135-7. doi: 10.1590/s0365-05962013000100023. PMID: 23539021Free PMC Article
Berdeaux O, Juaneda P, Martine L, Cabaret S, Bretillon L, Acar N
J Chromatogr A 2010 Dec 3;1217(49):7738-48. Epub 2010 Oct 14 doi: 10.1016/j.chroma.2010.10.039. PMID: 21035124

Therapy

Choi R, Gorusupudi A, Bernstein PS
Ophthalmic Genet 2018 Jun;39(3):307-313. Epub 2018 Jan 29 doi: 10.1080/13816810.2018.1430240. PMID: 29377748Free PMC Article

Prognosis

Choi R, Gorusupudi A, Bernstein PS
Ophthalmic Genet 2018 Jun;39(3):307-313. Epub 2018 Jan 29 doi: 10.1080/13816810.2018.1430240. PMID: 29377748Free PMC Article

Clinical prediction guides

Dejos C, Kuny S, Han WH, Capel H, Lemieux H, Sauvé Y
Sci Rep 2018 Apr 13;8(1):5944. doi: 10.1038/s41598-018-24357-4. PMID: 29654292Free PMC Article
Barabas P, Liu A, Xing W, Chen CK, Tong Z, Watt CB, Jones BW, Bernstein PS, Križaj D
Proc Natl Acad Sci U S A 2013 Mar 26;110(13):5181-6. Epub 2013 Mar 11 doi: 10.1073/pnas.1214707110. PMID: 23479632Free PMC Article
Okuda A, Naganuma T, Ohno Y, Abe K, Yamagata M, Igarashi Y, Kihara A
Mol Vis 2010 Nov 18;16:2438-45. PMID: 21139992Free PMC Article

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