Optical coherence tomography is used for diagnosis of Stargardt's disease.
Specialty
Ophthalmology
Symptoms
Loss of central vision, low visual acuity
Usual onset
Childhood
Duration
Lifelong
Causes
Genetic
Diagnostic method
Slit-lamp
Treatment
None
Stargardt disease is the most common inherited single-gene retinal disease.[1] In terms of the first description of the disease,[2] it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1).
However, there are Stargardt-like diseases with mimicking phenotypes that are referred to as STGD3 and STGD4, and have a autosomal dominant inheritance due to defects with ELOVL4 or PROM1 genes, respectively. It is characterized by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision.[3]
^Sahel, J.-A.; Marazova, K.; Audo, I. (2015). "Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations". Cold Spring Harbor Perspectives in Medicine. 5 (2): a017111. doi:10.1101/cshperspect.a017111. PMC 4315917. PMID 25324231.
^K. B. Stargardt (1909). "Über familiäre, progressive Degeneration in der Makulagegend des Auges". Albrecht von Graefes Archiv für Ophthalmologie (in German). 71 (3): 534–550. doi:10.1007/BF01961301. S2CID 12557316.
^"Stargardt disease : Definition(s) from the Unified Medical Language System ® Diseases Database". diseasesdatabase.com. Retrieved 5 February 2018.[permanent dead link]
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