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Stargardt disease
Epidemiology:
- one of the most frequent causes of macular degeneration in childhood
Pathology:
- alterations of the peripheral retina
- subretinal deposition of lipofuscin-like material
Genetics:
- intronic ABCA4 variants
- > 1000 mutations can cause Stargardt disease [3]
Clinical manifestations:
- macular dystrophy with juvenile-onset
- rapidly progressive course
Interactions
disease interactions
Specific
Stargardt disease type 1 (STGD1)
Stargardt disease type 3
Stargardt disease type 4 (STGD4)
General
genetic disease of the eye
macular degeneration
References
- Runhart EH, Khan M, Cornelis SS et al
Association of Sex With Frequent and Mild ABCA4 Alleles in
Stargardt Disease.
JAMA Ophthalmol. 2020 Aug 20;e202990
PMID: 32815999 PMCID: PMC7441467 Free PMC article
https://jamanetwork.com/journals/jamaophthalmology/fullarticle/2769559
- Runhart EH, Valkenburg D, Cornelis SS et al
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.
Invest Ophthalmol Vis Sci. 2019 Oct 1;60(13):4249-4256.
PMID: 31618761
- Leslie M
Edit (don't kill) the messenger
New treatments aim to counteract mutant genes by fixing the faulty RNA they produce.
Science. 2024. Oct 24.
https://www.science.org/content/article/buoyed-milestone-clinical-result-rna-editing-poised-treat-diseases