Stargardt disease
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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
Clinical manifestations
- macular dystrophy with juvenile-onset
- rapidly progressive course
More general terms
More specific terms
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: https://www.ncbi.nlm.nih.gov/pubmed/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: https://www.ncbi.nlm.nih.gov/pubmed/31618761