Stargardt Disease 1

Alternative Names

  • STGD1
  • STGD
  • Macular Degeneration, Juvenile
  • Macular Dystrophy with Flecks, Type 1
  • Fundus Flavimaculatus
  • FFM
  • Retinal Dystrophy, Early-Onset Severe
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

248200

Mode of Inheritance

Mostly autosomal recessive; 10% autosomal dominant

Gene Map Locus

1p22.1

Description

Stargardt disease is a severe form of inherited juvenile macular degeneration and characterized by discrete yellowish round flecks around the macula at the level of the retinal pigment epithelium (RPE). The disease usually begins in late childhood with a progressive loss of central vision, although in some cases the earliest manifestations begin to appear only in to early adulthood. In its earliest stages, visual acuity may appear to be normal, with patients experiencing only dark adaptation problems. Progressively, patients begin to experience central vision loss, and in advanced cases, macular atrophy, color vision impairment, and severe loss of visual acuity classified as legal blindness. During this progression, fatty deposits, called lipofuscin, accumulate around the RPE in the macula. In the early stages, this accumulation consists of only a few yellowish flecks, and resembles a snail's slime. However, in the later stages, the macula has a bull's eye pattern, accompanied with atrophy of the RPE.

Most cases of Stargardt disease are inherited in an autosomal recessive manner. About 10% of them are transmitted by autosomal dominant inheritance. Most commonly, mutations in the ABCA4 (ATP-Binding Cassette, Subfamily A, Member 4) gene have been shown to be implicated in the pathogenesis of the disease. Other mutations in the same gene have been implicated in other ocular disorders, such as autosomal recessive cone-rod dystrophy.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
248200.1Saudi ArabiaUnknownNoYes Macular dystrophy... NM_000350.3:c.2791G>AHeterozygousAutosomal, RecessiveAllikmets et al. 1997
248200.2LebanonUnknownYes Blindness... NM_000350.3:c.1648G>AHomozygousAutosomal, RecessiveJalkh et al. 2019
248200.3LebanonUnknownNo Cone/cone-rod dystrophy; Macular degener... NM_000350.3:c.1648G>A, NM_000350.3:c.1807T>CHeterozygousAutosomal, RecessiveJalkh et al. 2019
248200.4United Arab EmiratesMale Macular atrophy; Reduced visual acuity; ... NM_000350.3:c.4567C>THomozygousAutosomal, RecessiveKhan. 2020 Patient '9' in the p...
248200.5United Arab EmiratesFemale Macular atrophy; Reduced visual acuity... NM_000350.3:c.5882G>A, NM_000350.3:c.4793C>AHeterozygousAutosomal, RecessiveKhan. 2020 Patient '17' in the ...
248200.6United Arab EmiratesFemale Macular atrophy; Reduced visual acuity... NM_000350.3:c.5882G>A, NM_000350.3:c.607_611delHeterozygousAutosomal, RecessiveKhan. 2020 Patient '18' in the ...
248200.7United Arab EmiratesMale Macular atrophy; Reduced visual acuity... NM_000350.3:c.5882G>A, NM_000350.3:c.3259G>AHeterozygousAutosomal, RecessiveKhan. 2020 Patient '19' in the ...
248200.8United Arab EmiratesFemale Macular atrophy; Reduced visual acuity... NM_000350.3:c.5882G>A, NM_000350.3:c.3898C>THeterozygousAutosomal, RecessiveKhan. 2020 Patient '20' in the ...
248200.9United Arab EmiratesMale Macular atrophy; Reduced visual acuity... NM_000350.3:c.4328G>A, NM_000350.3:c.2657delHeterozygousAutosomal, RecessiveKhan. 2020 Patient '21' in the ...
248200.10United Arab EmiratesFemale Macular atrophy; Reduced visual acuity... NM_000350.3:c.5882G>A, NM_000350.3:c.2570T>CHeterozygousAutosomal, RecessiveKhan. 2020 Patient '22' in the ...
248200.11United Arab EmiratesFemaleNoYes Alternating esotropia; Myopia; Macular s... NM_000350.3:c.749delHomozygousAutosomal, RecessiveAlabdullatif et al. 2017
248200.G.1JordanUnknownYesNo Visual impairment; Atypical Stargardt... NM_000350.3:c.2294G>A, NM_000350.3:c.1804C>THeterozygousAutosomal, RecessivePatel et al, 2018 3 members of a famil...
248200.G.2United Arab Emirates Macular atrophy; Reduced visual acuity; ... NM_000350.3:c.5882G>A, NM_000350.3:c.2570T>CHomozygousAutosomal, RecessiveKhan. 2020 11 patients with chi...
248200.G.3United Arab EmiratesMaleYes Macular atrophy; Reduced visual acuity; ... NM_000350.3:c.3623T>GHomozygousAutosomal, RecessiveKhan. 2020 2 related patients (...
248200.G.4United Arab EmiratesYes Macular atrophy; Reduced visual acuity... NM_000350.3:c.5882G>A, NM_000350.3:c.2570T>CHeterozygousAutosomal, RecessiveKhan. 2020 2 related patients (...

Other Reports

Kuwait

Al-Merjan et al. (2005) presented the causes and incidence rates of disorders leading to blindness and low vision in Kuwait, based on the data collected by the Visual Disability Committee in a 5-year period from 2000 to 2004. Of the 826,083 people (407,871 males) registered with blindness and low vision, 39% were below the age of 20-years, 32% were between the ages of 21 and 40-years, while only about 10% were over 60-years of age. Stargardt disease was found to occur with an overall incidence rate of 0.70 per 100,000 individuals. The incidence varied between males (0.88) and females (0.52).

United Arab Emirates

Al-Sharif & Khan (2020) studied cycloplegic refractions in an Emirati  patient cohort with genetically confirmed ABCA4- related retinopathy. 

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