Abstract
Stargardt disease is the most prevalent inherited disease that causes visual impairment in childhood and young adults. Stargardt disease is caused by mutations in the ABCA4 gene. Although Stargardt disease was originally considered a juvenile macular degeneration, initial abnormalities may develop at early childhood until late adulthood and include a wide range of clinical, psychophysical, and imaging findings. In recent years, considerable advances have been made in our understanding of the clinical phenotypes, natural history, and molecular genetics of Stargardt disease and have led to the first steps in developing therapies.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Stargardt K. Über familliäre, progressive Degeneration in der Maculagegend des Auges. Graefes Arch Clin Exp Ophthalmol. 1909;71:534–50.
Blacharski PA. Fundus flavimaculatus. In: Newsome, DA (ed): Retinal Dystrophies and Degenerations. New York: Raven Press. 1988; pp 135–59.
Allikmets R, Singh N, Sun H, Shroyer NF, Hitchinson A, Chidambaram A, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15(3):236–46.
Franceschetti A. A special form of tapetoretinal degeneration: fundus flavimaculatus. Trans Am Acad Opthalmol Otolaryngol. 1965;69(6):1048–53.
van Huet RA, Bax NM, Westeneng-van Haaften SC, Muhamad M, Zonneveld-Vrieling MN, Hoefsloot LH, et al. Foveal sparing in Stargardt disease. Invest Ophthalmol Vis Sci. 2014;55(11):7467–78.
Rotenstreich Y, Fishman GA, Anderson RJ. Visual acuity loss and clinical observations in a large series of patients with Stargardt disease. Ophthalmology. 2003;110(6):1151–8.
Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, et al. Early-onset Stargardt disease: phenotypic and genotypic characteristics. Ophthalmology. 2015;122(2):335–44.
Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, et al. Clinical and molecular characteristics of childhood-onset Stargardt disease. Ophthalmology. 2015;122(2):326–34.
Lee W, Noupuu K, Oll M, Duncker T, Burke T, Zemant J, et al. The external limiting membrane in early-onset Stargardt disease. Invest Ophthalmol Vis Sci. 2014;55(10):6139–49.
Nõupuu K, Lee W, Zernant J, Tsang SH, Allikmets R. Structural and genetic assessment of the ABCA4-associated optical gap phenotype. Invest Ophthalmol Vis Sci. 2014;55(11):7217–26.
Fujinami K, Sergouniotis PI, Davidson AE, Wright G, Chana RK, Tsunoda K, et al. Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. Am J Ophthalmol. 2013;156(3):487–501.e1.
Westeneng-van Haaften SC, Boon CJ, Cremers FP, Hoefsloot LH, den Hollander AI, Joyng CB. Clinical and genetic characteristics of late-onset Stargardt’s disease. Ophthalmology. 2012;119(6):1199–210.
Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt’s disease from the phenotype in abcr knockout mice. Cell. 1999;98(1):13–23.
Charbel Issa P, Barnard AR, Singh MS, Carter E, Jiang Z, Radu RA, et al. Fundus autofluorescence in the Abca4(−/−) mouse model of Stargardt disease—correlation with accumulation of A2E, retinal function, and histology. Invest Ophthalmol Vis Sci. 2013;54(8):5602–12.
Klevering BJ, Blankenagel A, Maugeri A, Cremers FP, Joyng CB, Rohrschneider K. Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene. Invest Ophthalmol Vis Sci. 2002;43(6):1980–5.
Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol. 2005;243(2):90–100.
van Driel MA, Maugeri A, Klevering BJ, Hoyng CB, Cremers FP. ABCR unites what ophthalmologists divide(s). Ophthalmic Genet. 1998;19(3):117–22.
Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol. 1994;112(6):765–72.
Kniazeva M, Chiang MF, Morgan B, Anduze AL, Zack DJ, Han M, Zhang K. A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. Am J Hum Genet. 1999;64(5):1394–9.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer International Publishing Switzerland
About this chapter
Cite this chapter
Hoyng, C.B., Lambertus, S., Bax, N.M. (2016). Stargardt Disease. In: Querques, G., Souied, E. (eds) Macular Dystrophies. Springer, Cham. https://doi.org/10.1007/978-3-319-26621-3_3
Download citation
DOI: https://doi.org/10.1007/978-3-319-26621-3_3
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-26619-0
Online ISBN: 978-3-319-26621-3
eBook Packages: MedicineMedicine (R0)