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Stargardt disease 4(STGD4)

MedGen UID:
355004
Concept ID:
C1863534
Disease or Syndrome
Synonym: STGD4
 
Gene (location): PROM1 (4p15.32)
 
Monarch Initiative: MONDO:0011370
OMIM®: 603786

Definition

Stargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait (see 248200), but STGD4 is inherited as an autosomal dominant trait (summary by Kniazeva et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of Stargardt disease, see STGD1 (248200). [from OMIM]

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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Retinal flecks
MedGen UID:
602327
Concept ID:
C0423414
Finding
Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.

Recent clinical studies

Etiology

Strauss RW, Muñoz B, Ahmed MI, Bittencourt M, Schönbach EM, Michaelides M, Birch D, Zrenner E, Ervin AM, Charbel Issa P, Kong J, Wolfson Y, Shah M, Bagheri S, West S, Scholl HPN; for the ProgStar-4 Study Group
Ophthalmic Res 2018;60(3):185-194. Epub 2018 Aug 15 doi: 10.1159/000491791. PMID: 30110705

Diagnosis

Paavo M, Lee W, Parmann R, Lima de Carvalho JR Jr, Zernant J, Tsang SH, Allikmets R, Sparrow JR
Invest Ophthalmol Vis Sci 2023 Apr 3;64(4):27. doi: 10.1167/iovs.64.4.27. PMID: 37093133Free PMC Article
Ragi SD, Lima de Carvalho JR Jr, Tanaka AJ, Park KS, Mahajan VB, Maumenee IH, Tsang SH
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004481. PMID: 31836589Free PMC Article
Strauss RW, Muñoz B, Ahmed MI, Bittencourt M, Schönbach EM, Michaelides M, Birch D, Zrenner E, Ervin AM, Charbel Issa P, Kong J, Wolfson Y, Shah M, Bagheri S, West S, Scholl HPN; for the ProgStar-4 Study Group
Ophthalmic Res 2018;60(3):185-194. Epub 2018 Aug 15 doi: 10.1159/000491791. PMID: 30110705
Kim JM, Lee C, Lee GI, Kim NKD, Ki CS, Park WY, Kim BJ, Kim SJ
Ann Lab Med 2017 Nov;37(6):536-539. doi: 10.3343/alm.2017.37.6.536. PMID: 28840994Free PMC Article

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