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Author: Professor August. F. Deutman1
Creation Date: January 2003
Scientific Editor: Professor Jean-Jacques De Laey
1Institute of Ophthalmology, University Hospital Nijmegen, Postbox 9101, 6500 HB Nijmegen, Netherlands.
Stargardt's disease is a form of juvenile hereditary macular degeneration characterized by discrete
yellowish round or pisciform flecks around the macula at the level of the retinal pigment epithelium (rpe).
Stargardt's disease is the most common hereditary macular dystrophy. Prevalence is estimated between
1 in 8,000 and 1 in 10,000. Disease onset occurs typically in the first or second decade of life and
manifests as decreased visual acuity. In the early stages, the macula usually shows discrete rpe changes,
followed later by an horizontal ovoid zone of beaten bronze atrophy. In final stages, the macula can be
associated with central areolar choroidal dystrophy. Fluorescein angiography reveals the characteristic
dark choroid (''silence choroidien''), which probably results from the accumulation of lipofuscin in the rpe.
This disease has usually an autosomal recessive inheritance pattern but some dominant pedigrees have
been reported. The autosomal type has been associated with mutations in the ABCR gene, which
encodes a transmembrane transporter protein expressed by the rod outer segments. There is currently no
treatment available for Stargardt's disease.
Stargardt, Macula, Fundus flavimaculatus
Disease name and synonyms
Stargardt’s disease (Stargardt, 1909, 1913,
1916, 1917, 1925; Weleber, 1994; Armstrong et al
., 1998) is a form of juvenile hereditary macular
degeneration characterized by discrete yellowish
round or pisciform flecks around the macula at
the level of the retinal pigment epithelium (rpe).
This condition is also referred to as fundus
flavimaculatus (Deutman and Hoyng, 2001).
Stargardt’s disease is the most common hereditary macular dystrophy. The incidence of
Stargardt’s disease is unknown. Approximate
Deutman A. Stargardt’s disease. Orphanet Encyclopedia. January 2003. http://www.orpha.net/data/patho/GB/uk-Stargardt.pdf 1
estimates place the rate of prevalence between
Men and women are equally affected and no
degeneration (AMD) but further studies are
necessary (Bernstein et al
., 2002). Recently Glazer and Dryja presented a three-step
Patients present typically in the first or second
Stargardt’s disease (Glazer and Dryja, 2002).
decade of life, complaining of decreased visual
1. Defective Rim protein, a protein encoded by
acuity. Both eyes are generally equally and
gene causes an accumulation of
symetrically affected. Visual acuity usually
protonated N-retinyledine-PE in the rod outer
gradually diminishes to 20/200 (6/60; 0.1) and
has a significant correlation with the matching
2. A2-E, a byproduct of N-retinyledine-PE then
ranges of the Rayleigh equation (Mantyjarvi and
accumulates in the rpe cells and is toxic to them.
3. Photoreceptors eventually die secondary to
Clinical presentation in Stargardt’s disease
varies greatly. Early manifestation may only consist of some yellowish flecks and a macula
with a snail’s slime aspect. In the later stages of
Fluorescein angiography plays a key role in the
the disease, the macula may show a bull’s eye
diagnosis of Stargardt’s, as it evidences dark
pattern with rpe-atrophy or a beaten-bronze
choroid (“silence choroidien”), a characteristic
sign of the disease that probably results from the
The functional changes remain usually restricted
accumulation of lipofuscin in the rpe. The retinal
to the posterior pole of the eye, but they
vasculature, and especially the retinal capillaries,
sometimes also affect the peripheral retina
degenerative retinopathy or mixed tapeto retinal
Functional findings show usually a normal ERG,
degeneration). In those cases, the vessels are
attenuated, the discs may become pale and pigmentary changes become obvious; the
, Meyer D, Xu S et al
follow-up of Stargardt’s disease and fundus
and the visual fields may be attenuated.
flavimaculatus. Ophthalmology. 1998;105:448-
Disease onset is associated with a very slight
defect in processing red-green vision in retina. A
, Leppert M, Singh N, Dean M,
distinct acquired red (pseudo-protanomalous)
Lewis RA, Lupski JR, Allikmets R, Seddon JM.
defect is observed later in the disease course. In
Genotype-phenotype analysis of ABCR variants
advanced stages, the red defect becomes much
in macular degeneration and siblings. Invest
stronger (scotopization). A blue defect can also
, Van de Pol DJ, Van Driel M, Den
Hollander AI, Van Haren FJ, Knoers NV, Tijmes
Management including treatment
N, Bergen AA, Rohrschneider K, Blankenagel A,
Low-vision aids are prescribed and no other
treatment is currently available (Fishman et al
Autosomal recessive retinitis pigmentosa and
cone-rod dystrophy caused by splice site mutations in the Stargardt’s disease gene
Stargardt’s disease has usually an autosomal
, Maugeri A, Klevering BJ, Hoefsloot
recessive inheritance pattern but some dominant
LH, Hoyng CB. Van gen naar ziekte; van het
pedigrees have been reported. The autosomal
ABCA4-gen naar de ziekte van Stargardt, kegel-
type has been associated to mutations in the
stavendystrofie en retinitis pigmentosa. Ned
) gene, which maps to 1p21-p13.
encodes a transmembrane transporter
and Hoyng C. Macular
protein that is expressed by the rod outer
Dystrophies. Retina. Ed. SJ Ryan, 3rd ed. Ed
segments (Cremers et al
., 1998; Klevering et al
Mosby, St. Louis, Missouri. 2001;70:1210-57.
, Farber M, Patel BS et al
mutations may also lead to autosomal
acuity loss in patients with Stargardt’s macular
recessive cone rod dystrophy (Cremers et al
dystrophy. Ophthalmology. 1987;94:809-14.
2002; Rudolph et al
., 2002; Fukui et al
, Yamamoto S, Nakano K, Tsujikawa M,
Morimura H, Nishida K, Ohguro N, Fujikado T,
Deutman A. Stargardt’s disease. Orphanet Encyclopedia. January 2003. http://www.orpha.net/data/patho/GB/uk-Stargardt.pdf 2
Irifune M, Kuniyoshi K, Okada AA, Hirakata A,
family with Stargardt’s disease and pigmentosa
Miyake Y, Tano Y. ABCA4 gene mutations in
Japanese patients with Stargardt disease and
retinitis pigmentosa. Invest Ophthalmol Vis Sci.
. Ueber familiare, progressive
Degeneration in der Makulagegend des Auges.
, Dryja, TP. Understanding the
Albrecht von Graefes Arch Klin Ophthalmol.
etiology of Stargardt’s disease. Ophthalmol Clin
. Ueber familiare progressive
, Van Driel M, Van de Pol DJ,
Degeneration in der Makulagegend des Auges.
Phenotypic variations in a family with retinal
. Zur Kasuistik der “familiaren,
dystrophy as result of different mutations in the
progressiven Degeneration in der Makulagegend
ABCR gene. Br J Ophthalmol. 1999;83:914-8.
des Auges”. Z Augenheilk. 1916;35:249.
, Klevering BJ, Rohrschneider K,
. Ueber familiare Degeneration in
Hoyng CB, Cremers FP. Mutations in the ABCA4
psychische Störungen, Arch Psychiatr Nervenkr.
(ABCR) gene. Am J Hum Genet. 2000;67:960-6.
, Tuppurainen K. Color vision in
. Ein Fall von familiarer progressiver
Makuladegeneration. Klin Monatsbl Augenheilk.
, Kalpadakis P, Haritoglou C, Rivera
. Stargardt’s macular dystrophy.
A, Weber BH. Mutations in the ABCA4 gene in a
Deutman A. Stargardt’s disease. Orphanet Encyclopedia. January 2003. http://www.orpha.net/data/patho/GB/uk-Stargardt.pdf 3
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