Late-Onset Stargardt disease; a clinical condition may be misdiagnosed: a case report

Abstract

Stargardt disease (SD) is a rare condition primarily represented by a progressive visual acuity impairment. This macular dystrophy has a wide clinical spectrum leading to a false diagnosis and may be neglected. We report a case of late-onset SD that was misdiagnosed to raise awareness of ophthalmologists about SD special in patients without fundus abnormalities. A 35-year-old female presented with progressive bilateral vision loss from 2 years ago. She had a medical history of photorefractive keratectomy (PRK) 5 years prior to presentation. All retinal and corneal medical records before PRK were normal. In the retinal exam, bilateral numerous sub-retinal yellow deposits were seen in the fovea. Optical coherence tomography showed retinal thinning and retinal pigment epithelium irregularity of fovea. Fluorescein angiography revealed a dark choroid pattern. SD is typically described in young patients but may develop later in adulthood and masquerade other macular dystrophies. We recommend referring children and young adults with ambiguous visual complaints without initial fundus abnormalities to a specialized ophthalmologic center.