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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; STGD3
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 600110

Definition

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 sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, 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.
[from GHR]

Clinical features

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.
Reduced visual acuity
MedGen UID:
461148
Concept ID:
C3149798
Finding
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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):1128-38. Epub 2011 Mar 22 doi: 10.1194/jlr.M014415. PMID: 21429867Free PMC Article

Diagnosis

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. 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

Clinical prediction guides

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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