Stargardt disease

PURPOSE: To assess the prevalence and the clinical course of focal choroidal excavation (FCE) in patients affected by macular dystrophies. METHODS: Prospective case series. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity and spectral domain optical coherence tomography. The presence of choroidal neovascularization (CNV) was assessed on the basis of the leakage detected on fluorescein angiography. RESULTS: A total of 162 eyes from 81 patients with macular dystrophy were included in the study...

Purpose: To assess reliability and repeatability of cone density measurements by using confocal and (nonconfocal) split-detector adaptive optics scanning light ophthalmoscopy (AOSLO) imaging. It will be determined whether cone density values are significantly different between modalities in Stargardt disease (STGD) and retinitis pigmentosa GTPase regulator (RPGR)-associated retinopathy. Methods: Twelve patients with STGD (aged 9-52 years) and eight with RPGR-associated retinopathy (aged 11-31 years) were imaged using both confocal and split-detector AOSLO simultaneously...

Purpose: Ocular and systemic measurement and imaging of the macular carotenoids lutein and zeaxanthin have been employed extensively as potential biomarkers of AMD risk. In this study, we systematically compare dual wavelength retinal autofluorescence imaging (AFI) of macular pigment with skin resonance Raman spectroscopy (RRS) and serum carotenoid levels in a clinic-based population. Methods: Eighty-eight patients were recruited from retina and general ophthalmology practices from a tertiary referral center and excluded only if they did not have all three modalities tested, had a diagnosis of macular telangiectasia (MacTel) or Stargardt disease, or had poor AFI image quality...

We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. Typically, the diagnosis of early-onset STGD1 is challenging because children may present with a variety of fundus changes and a variable rate of progression. At the time of his initial visit, the 6-year-old boy presented with 20/200 OD (right eye) and 20/150 OS (left eye), symmetrical mild foveal atrophy without flecks on fundus exam, and foveal hypoautofluorescence surrounded by a homogeneous hyperautofluorescent background on wide-field fundus autofluorescence...

PURPOSE: To characterize autofluorescence (AF) patterns occurring in Stargardt macular dystrophy (STGD1) using ultra-wide-field (UWF) imaging. METHODS: This paper is a cross-sectional observational study of 22 eyes of 11 patients (mean age 23.44 years) with Stargardt disease-fundus flavimaculatus who presented with decrease of vision at a tertiary eye care center. UWF short-wave AF images were obtained from all the patients using an Optos TX200 instrument. The main outcome measures were to assess patterns of AF changes seen on UWF AF imaging...

Emixustat is a small molecule that potently inhibits retinal pigment epithelium 65 isomerohydrolase. Emixustat is in clinical development for the treatment of various retinopathies (i.e. Stargardt disease and diabetic retinopathy). A human absorption, distribution, metabolism, and excretion (ADME) study was conducted with a single dose of [(14)C]-emixustat in healthy male subjects. Total (14)C content in plasma, urine, and faeces was determined using accelerator mass spectrometry (AMS), and metabolic profiles in pooled plasma and urine were investigated by both HPLC-AMS and 2D LC-MS/MS...

Imaging techniques based on retinal autofluorescence have found broad applications in ophthalmology because they are extremely sensitive and noninvasive. Conventional fundus autofluorescence measures fluorescence intensity of retinal fluorophores. It mainly derives its signal from lipofuscin at the level of the retinal pigment epithelium. Fundus autofluorescence, however, can not only be characterized by the spatial distribution of the fluorescence intensity or emission spectrum, but also by a characteristic fluorescence lifetime function...

Precise measurements of photoreceptor numerosity and spatial arrangement are promising biomarkers for the early detection of retinal pathologies and may be valuable in the evaluation of retinal therapies. Adaptive optics scanning light ophthalmoscopy (AOSLO) is a method of imaging that corrects for aberrations of the eye to acquire high-resolution images that reveal the photoreceptor mosaic. These images are typically graded manually by experienced observers, obviating the robust, large-scale use of the technology...

PURPOSE: To evaluate the efficacy of a reading rehabilitation program (RRP) in patients with central visual loss (CVL) and assess the impact of the RRP on the quality of life (QoL). METHODS: The RRP included four in-office and 39 in-home training sessions over 6 weeks. Reading speed, duration, and font size were evaluated during each in-office session. The subjective perception of the QoL was assessed before and after the RRP using the short version of a questionnaire (World Health Organization Quality of Life)...

PURPOSE: To quantify and correlate ellipsoid zone and photoreceptor outer segment changes with visual acuity in Stargardt disease. METHODS: An institutional review board-approved study of 32 eyes with Stargardt disease was performed. After spectral domain optical coherence tomography, the macular cube was exported into a novel analysis tool and volumetric assessment from the ellipsoid zone to the retinal pigment epithelium was performed. Using this information, mapping was completed with en face representation of the height between the ellipsoid zone and retinal pigment epithelium...

BACKGROUND: Stargardt disease (STGD) is the most common juvenile hereditary macular dystrophy. In the majority of cases, the diagnosis is made prior to 20 years of age and usually leads to loss of central vision. Late-onset STGD affects a smaller number of patients. Identifying genetic changes which could be associated with clinically important differences in severity or presentation of the disease is important for understanding the mechanisms of visual loss and for planning future therapeutic approaches...

OBJECTIVE: To analyze Stargardt disease (STGD) by morpho-functional examination and investigate the relationship between morpho-functional measures and reading performance. DESIGN: Observational case series study. PARTICIPANTS: Fifteen patients with STGD. METHODS: Twenty-six eyes of 15 patients underwent complete ophthalmic evaluation. Spectral domain optical coherence tomography, fundus autofluorescence (FAF), best corrected visual acuity (BCVA), and microperimetric examinations were performed...

INTRODUCTION: Stargardt's disease is the most frequent form of inherited macular dystrophy in children and adults. It is a genetic eye disorder caused by mutations in ABCA4 gene with an autosomal recessive inheritance. ABCA4 is a very polymorphic and large gene containing 50 exons. The development of next generation sequencing (NGS) can be used for the genetic diagnosis of this disease. PATIENTS AND METHODS: A report is presented on two patients with a clinical diagnosis of Stargardt's disease whose genetic confirmation was performed by a NGS panel of 298 genes...

PURPOSE: To estimate the yearly rate of change of best-corrected visual acuity (BCVA) and the risk of loss 1 line or more over 1 year and to identify risk factors for BCVA loss in patients with Stargardt disease (STGD1). DESIGN: Multicenter, prospective cohort study. PARTICIPANTS: Two hundred fifty-nine patients (489 eyes) with molecularly confirmed STGD1 enrolled at 9 centers in the United States and Europe. METHODS: Participants were followed up every 6 months, and data at the baseline and 6- and 12-month visits were analyzed...

Importance: Outcome measures that are sensitive to disease progression are needed as clinical end points for future treatment trials in Stargardt disease. Objective: To examine the incidence of atrophic lesions of the retinal pigment epithelium in patients with Stargardt disease as determined by fundus autofluorescence imaging. Design, Setting, and Participants: In this retrospective multicenter cohort study, 217 patients 6 years and older at baseline at tertiary referral centers in Europe, the United States, and the United Kingdom who were harboring disease-causing variants in the adenosine triphosphate (ATP)-binding cassette subfamily A member 4 (ABCA4) gene and who met the following criteria were enrolled: (1) at least 1 well-demarcated area of atrophy with a minimum diameter of 300 µm, with the total area of all atrophic lesions being less than or equal to 12 mm2 in at least 1 eye at the most recent visit, and (2) fundus autofluorescence images for at least 2 visits with a minimum of 6 months between at least 2 visits...

Importance: New outcome measures for treatment trials for Stargardt disease type 1 (STGD1) and other macular diseases are needed. Microperimetry allows mapping of light sensitivity of the macula and provides topographic information on visual function beyond visual acuity. Objective: To measure and analyze retinal light sensitivity of the macula in STGD1 using fundus-controlled perimetry (microperimetry). Design, Setting, and Participants: This was a multicenter prospective cohort study...

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BACKGROUND: Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. MATERIALS AND METHODS: We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12. RESULTS: Fundus autofluorescence imaging revealed a general loss of retinal pigment epithelium across the macula except for the peripapillary region in both eyes of all patients...

ELOngation of Very Long chain fatty acids (ELOVL)-4 is essential for the synthesis of very long chain-fatty acids (fatty acids with chain lengths ≥ 28 carbons). The functions of ELOVL4 and its very long-chain fatty acid products are poorly understood at present. However, mutations in ELOVL4 cause neurodevelopmental or neurodegenerative diseases that vary according to the mutation and inheritance pattern. Heterozygous inheritance of different ELOVL4 mutations causes Stargardt-like Macular Dystrophy or Spinocerebellar Ataxia type 34...

PURPOSE: To study the reading performance of patients with Stargardt disease (STGD) and the relationship between clinical vision measurements and vision-related quality of life (VRQOL). METHODS: We studied both eyes of 16 patients with STGD. Each patient was examined for best-corrected visual acuity (Early Treatment Diabetic Retinopathy Study [ETDRS]), reading ability (MNREAD and REX charts), contrast sensitivity (Pelli-Robson charts), fixation study (MP1 microperimeter), and VRQOL (25-item National Eye Institute Visual Function Questionnaire [NEI VFQ-25])...