Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

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Abstract

Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and genotypic characteristics of the disease, conventional and novel imaging findings, current knowledge of animal models and pathogenesis, and the multiple avenues of intervention being explored.

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Most cited references 69

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Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies

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In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics.

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To characterize the intrinsic fluorescence (autofluorescence) of the human ocular fundus with regard to its excitation and emission spectra, age relationship, retinal location, and topography, and to identify the dominant fluorophore among the fundus layers. Using a novel fundus spectrophotometer, fluorescence measurements were made at 7 degrees temporal to the fovea and at the fovea in 30 normal subjects and in 3 selected patients. Topographic measurements were made in 3 subjects. Ex vivo measurements of fluorescence of human retinal pigment epithelium (RPE) were obtained and compared to in vivo data. Fundus fluorescence reveals a broad band of emission between 500 and 750 nm, a maximum of approximately 630 nm, and optimal excitation of approximately 510 nm. Exhibiting a significant increase with age, this fluorescence is highest at 7 degrees to 15 degrees from the fovea, shows a well-defined foveal minimum, and decreases toward the periphery. In vivo fluorescence spectra are consistent with those obtained ex vivo on human RPE. Measurements with short wavelength excitation are strongly influenced by ocular media absorption and reveal an additional minor fluorophore in the fovea. Spectral characteristics, correlation with age, topographic distribution, and retinal location between the choriocapillaris and the photoreceptors suggest that the dominant fundus fluorophore is RPE lipofuscin. The minor fluorophore is probably in the neurosensory retina but has not been identified.

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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

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Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to the 2-cM (centiMorgan) interval at 1p13-p21 previously shown by linkage analysis to harbour the STGD gene. This gene, ABCR, is expressed exclusively and at high levels in the retina, in rod but not cone photoreceptors, as detected by in situ hybridization. Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage. These data indicate that ABCR is the causal gene of STGD/FFM.

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Author and article information

Journal

Journal ID (nlm-ta): Br J Ophthalmol

Journal ID (iso-abbrev): Br J Ophthalmol

Journal ID (hwp): bjophthalmol

Journal ID (publisher-id): bjo

Title: The British Journal of Ophthalmology

Publisher: BMJ Publishing Group (BMA House, Tavistock Square, London, WC1H 9JR )

ISSN (Print): 0007-1161

ISSN (Electronic): 1468-2079

Publication date (Print): January 2017

Publication date (Electronic): 04 August 2016

Volume: 101

Issue: 1

Pages: 25-30

Affiliations

[1 ]UCL Institute of Ophthalmology, University College London , London, UK

[2 ]Moorfields Eye Hospital , London, UK

[3 ]Departments of Ophthalmology, Medical University Graz and Johannes Kepler University , Linz, Austria

[4 ]National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Centre , Tokyo, Japan

Author notes

[Correspondence to ] Michel Michaelides, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK; michel.michaelides@ 123456ucl.ac.uk

Article

Publisher ID: bjophthalmol-2016-308823

DOI: 10.1136/bjophthalmol-2016-308823

PMC ID: 5256119

PubMed ID: 27491360

SO-VID: 1ffeb8e0-4b91-4a87-ac7f-4f86acb8a28e

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License:

This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/