| Phenotype details |
At the time of his initial visit, the 6-year-old boy presented with 20/200 OD and 20/150 OS, symmetrical mild foveal atrophy without flecks on fundus exam, and foveal hypoautofluorescence surrounded by a homogeneous hyperautofluorescent background on wide-field fundus autofluorescence (WF-FAF). Over four 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. Over four years of follow-up, the patient’s BCVA progressively decreased to counting fingers at 4 feet OD and 20/500 OS. Over this same time, GVF showed enlargement of the central scotomata and constriction of the peripheral isopters. However, due to the young age of the patient, responses were inconsistent and unreliable. On WF-FAF, the hyperautofluorescent background gradually expanded centrifugally towards the vascular arcades and around the peripapillary region, with concomitant hypoautofluorecence of the encircled area. As a result, a well-defined hyperautofluorescent ring was formed around the entire posterior pole, and subsequent atrophy created a gap, allowing a second inner hyperautofluorescent ring around the peripapillary region to develop. |
