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Severe early-childhood-onset retinal dystrophy(STGD1)

MedGen UID:
383691
Concept ID:
C1855465
Disease or Syndrome
Synonyms: ABCA4-Related Stargardt Disease 1; CNGB3-Related Stargardt Disease 1; Juvenile onset macular degeneration; MACULAR DYSTROPHY WITH FLECKS, TYPE 1; Stargardt disease 1; Stargardt macular dystrophy; STGD; STGD1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ABCA4 (1p22.1)
 
Monarch Initiative: MONDO:0009549
OMIM®: 248200
Orphanet: ORPHA364055

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 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. [from MedlinePlus Genetics]

Clinical features

From HPO
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Bull eye maculopathy
MedGen UID:
321812
Concept ID:
C1828210
Finding
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
Retinitis pigmentosa inversa
MedGen UID:
867201
Concept ID:
C4021559
Disease or Syndrome
Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Georgiou M, Ali N, Yang E, Grewal PS, Rotsos T, Pontikos N, Robson AG, Michaelides M
Orphanet J Rare Dis 2021 Mar 12;16(1):128. doi: 10.1186/s13023-021-01759-8. PMID: 33712029Free PMC Article

Diagnosis

Georgiou M, Ali N, Yang E, Grewal PS, Rotsos T, Pontikos N, Robson AG, Michaelides M
Orphanet J Rare Dis 2021 Mar 12;16(1):128. doi: 10.1186/s13023-021-01759-8. PMID: 33712029Free PMC Article
Kumaran N, Moore AT, Weleber RG, Michaelides M
Br J Ophthalmol 2017 Sep;101(9):1147-1154. Epub 2017 Jul 8 doi: 10.1136/bjophthalmol-2016-309975. PMID: 28689169Free PMC Article
Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM
Invest Ophthalmol Vis Sci 2011 Jan 5;52(1):292-302. doi: 10.1167/iovs.10-6106. PMID: 20811047

Therapy

Miraldi Utz V, Coussa RG, Antaki F, Traboulsi EI
Ophthalmic Genet 2018 Dec;39(6):671-677. Epub 2018 Oct 18 doi: 10.1080/13816810.2018.1533027. PMID: 30335549
Weleber RG, Pennesi ME, Wilson DJ, Kaushal S, Erker LR, Jensen L, McBride MT, Flotte TR, Humphries M, Calcedo R, Hauswirth WW, Chulay JD, Stout JT
Ophthalmology 2016 Jul;123(7):1606-20. Epub 2016 Apr 19 doi: 10.1016/j.ophtha.2016.03.003. PMID: 27102010

Clinical prediction guides

Weleber RG, Pennesi ME, Wilson DJ, Kaushal S, Erker LR, Jensen L, McBride MT, Flotte TR, Humphries M, Calcedo R, Hauswirth WW, Chulay JD, Stout JT
Ophthalmology 2016 Jul;123(7):1606-20. Epub 2016 Apr 19 doi: 10.1016/j.ophtha.2016.03.003. PMID: 27102010
Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM
Invest Ophthalmol Vis Sci 2011 Jan 5;52(1):292-302. doi: 10.1167/iovs.10-6106. PMID: 20811047

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