Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2014:53:44-52.
doi: 10.1159/000357293. Epub 2014 Apr 10.

Juvenile-onset macular degeneration and allied disorders

Victoria North  1 , Rony Gelman, Stephen H Tsang
Affiliations
Review

Juvenile-onset macular degeneration and allied disorders

Victoria North et al. Dev Ophthalmol. 2014.

Abstract

While age-related macular degeneration (AMD) is a leading cause of central vision loss among the elderly, many inherited diseases that present earlier in life share features of AMD. These diseases of juvenile-onset macular degeneration include Stargardt disease, Best disease, retinitis pigmentosa, X-linked retinoschisis, and other allied disorders. In particular, they can be accompanied by the appearance of drusen, geographic atrophy, macular hyperpigmentation, choroidal neovascularization, and disciform scarring just as in AMD, and often may be confused for the adult form of the disease. Diagnosis based on funduscopic findings alone can be challenging. However, the use of diagnostic studies such as electroretinography, electrooculography, optical coherence tomography, and fundus autofluorescence in conjunction with genetic testing can lead to an accurate diagnosis.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
STGD. a Wide-view fundus photograph of an STGD patient. b, d Disease progression in a second STGD patient. b Fundus photograph demonstrating pigmentary changes and RPE atrophy of the fovea. FAF (c) and fundus photograph (d) after a 3-year interval showing widespread accumulation of lipofuscin and increased areas of RPE atrophy in a classic Bull’s eye shape, but with peripapillary sparing (arrows).
Fig. 2
Fig. 2
Best disease. Fundus photograph (a) and FAF (b) demonstrating central areas of atrophy that correspond to areas of serous detachment. b Lipofuscin accumulates inferiorly due to gravity.
Fig. 3
Fig. 3
Allied disorders. a RP FAF with high-density autofluorescent ring and peripheral drop-off of photoreceptors. This high-density ring corresponds to visual field loss. b Early bull’s eye maculopathy FAF showing lesion in the classic shape with central foveal atrophy. c Pattern dystrophy FAF with diffuse accumulation of lipofuscin and profound central atrophy without peripapillary sparing.
Fig. 4
Fig. 4
North Carolina macular dystrophy. a Fundus photograph of a child with NCMD. b FAF of a 55-year-old man showing severe central hypoautofluorescence. c Infrared image of same adult.
See this image and copyright information in PMC

References

    1. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, et al. A photoreceptor cell-specific ATPbinding transporter gene (ABCR) is mutated in recessive Stargardt’s macular dystrophy. Nat Genet. 1997;15:236–246. - PubMed
    1. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277:1805–1807. - PubMed
    1. Michaelides M, Chen LL, Brantley MA, Jr, Andorf JL, Isaak EM, Jenkins SA, et al. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull’s-eye maculopathy. Br J Ophthalmol. 2007;91:1650–1655. - PMC - PubMed
    1. Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Koyng CB. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol. 2005;243:90–100. - PubMed
    1. Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt’s disease gene ABCR. Hum Mol Genet. 1998;7:355–362. - PubMed