A Longitudinal Study of Stargardt Disease: Quantitative Assessment of Fundus Autofluorescence, Progression, and Genotype Correlations

Abstract

The AF pattern at baseline influences the enlargement of atrophy over time and has genetic correlates. These data are likely to assist in the provision of counseling on prognosis in Stargardt disease and be valuable for future clinical trials.

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4

“…Decreased FAF is a commonly used marker of retinal degeneration in ABCA4 retinopathy. The estimated rates of enlargement of reduced FAF areas in nullizygous patients (1.4-1.5 mm 2 /y) were comparable with the higher end of the range reported by Chen et al (0.2-2.1 mm 2 /y), 27 the rates reported for similar FAF patterns (0.7-4.4 mm 2 /y), 28 and the rates reported for ERG group 3 (2.3 mm 2 /y), 29 highlighting the utility of this parameter for assessing progressive maculopathy in ABCA4-retinopathy. The estimated rates of progression for p.G1961E patients were significantly slower (0.03-0.06 mm 2 /y), highlighting the importance of considering the genotype in future clinical studies, especially involving patients with otherwise overlapping characteristics (e.g., early disease onset).…”

Multifocal Electroretinograms in Stargardt's Disease/Fundus Flavimaculatus

“…He reported that some cases also had macular degeneration [2,3]. Stargardt's disease and fundus flavimaculatus usually have an autosomal recessive inheritance pattern [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16] and rarely an autosomal dominant pattern [17]. …”

Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease

“…ABCA4 transports N-retinylidene-PE to the cytosolic leaflet of the cell membrane, where it dissociates into ATR and PE. ATR within the RPE cell is reduced to all-trans retinol by retinol dehydrogenase, the latter entering the visual cycle for conversion to 11-cis retinal (12). When ABCA4 is mutated, transport is compromised, allowing for the accumulation of ATR within the disc lumens and gradually creating diretinoid-pyridinum-eithanolamine (A2E) and -retinal dimer (RALdi).…”