Double hyperautofluorescent ring on fundus autofluorescence in ABCA4. (2nd January 2018)

• Record Type: Journal Article
• Authors: Abalem, Maria Fernanda; Qian, Cynthia X.; Branham, Kari; Schlegel, Dana; Fahim, Abigail T.; Khan, Naheed W.; Heckenlively, John R.; Jayasundera, K. Thiran
• Is Part Of: Ophthalmic genetics. Volume 39:Number 1(2018)
• Page Start: 87
• Page End: 91
• Publication Date: 2018-01-02
• Subjects: ABCA4 -- fundus autofluorescence -- macular degeneration -- retinal degeneration -- retinal imaging -- Stargardt disease; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2017.1335330
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: 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. Over 4 years of follow-up, the retinal atrophy continued to progress, resulting in two well-defined and concentric hyperautofluorescent rings: one ring located at the posterior pole and the other located around the peripapillary region. Visual acuity also deteriorated to counting fingers at 4ft OD and 20/500 OS. To the best of our knowledge, this phenotype has not been previously described with the ABCA4 gene.