Stargardt disease is the most common inherited single-gene retinal disease. In its first description it followed an autosomal recessive pattern, which was later linked to variants in both copies of the ABCA4 gene, a form called STGD1. Stargardt-like diseases with similar appearances, called STGD3 and STGD4, are instead inherited in an autosomal dominant way and arise from defects in the ELOVL4 and PROM1 genes respectively. The condition is characterized by macular degeneration that begins in childhood, adolescence or adulthood and causes progressive loss of vision.
Facts
Condition ClassInherited single-gene retinal disease 1 Causative Agent First Described First Described (Era)Early 20th century: German ophthalmologist Karl Stargardt described seven patients with a recessively inherited macular dystrophy in 1909, the condition that now bears his name. 1 PrevalenceAbout 1 in 6,500 individuals 3 Classification
ICD-10 ChapterVII: Diseases of the Eye and Adnexa 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Stargardt disease
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Associated With
Gene Therapy, Treatments Gene therapy for Stargardt disease is investigational; the article states there is none at present.
Source Stargardt disease (Wikipedia)
Source Stargardt disease (Wikipedia)
Source Stargardt disease (Wikipedia)
Source Stargardt disease (Wikipedia)
Discovered By
Source Stargardt disease (Wikipedia)
Long-Form Articles
Treated By
Why this is disputed. Investigational only; reported benefit comes from early-phase trials and is not an established treatment.
Source Stargardt disease (Wikipedia)
Sources
1. Stargardt disease (Wikipedia)
History
In 1909 he described 7 patients with a recessively inherited macular dystrophy, now known as Stargardt disease
Lead paragraph 1
Stargardt disease is the most common inherited single-gene retinal disease.
Associated With: Ophthalmology, Treatment
ophthalmologists recommend measures that could slow the rate of progression
Associated With: Macular Degeneration, Lead section
It is characterized by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision.
Associated With: Retinitis Pigmentosa, Genetics
ABCA4 related disease has a role to play in other diseases such as retinitis pigmentosa, cone-rod dystrophies and age-related macular degeneration (AMD).
Associated With: Gene Therapy, Research
Gene therapy is designed to insert a copy of a corrected gene into retinal cells.
Treated By: Stem-Cell Therapy, Research
Stem-cell therapy involves injecting cells with the potential to mature into differentiated and functioning retinal cells.
View the Source2. World Health Organization: ICD-10 Version:2019 - H35.5
World Health OrganizationICD-10 2019 category H35.5, Chapter VIIQuote, ICD-10 2019 category H35.5, Chapter VII
H35.5 Hereditary retinal dystrophy Incl.: Dystrophy: retinal (albipunctate)(pigmentary)(vitelliform) tapetoretinal vitreoretinal Retinitis pigmentosa Stargardt disease
3. MedlinePlus Genetics (National Library of Medicine): Stargardt macular degeneration
MedlinePlus Genetics (National Library of Medicine)Inheritance
When variants in the ABCA4 gene cause this condition, it is inherited in an autosomal recessive pattern
Frequency
The estimated prevalence of Stargardt macular degeneration is about 1 in 6,500 individuals.
View the Source 4. National Eye Institute: Stargardt Disease
National Eye InstituteWhat causes Stargardt disease?Quote, What causes Stargardt disease?
Stargardt disease is usually caused by changes in a gene called ABCA4.
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