A Rare Occurrence of Stargardt Disease in a Quadragenarian Adult

Abstract

The retina is the light-sensitive layer of the human eye. The macula forms the central part of the retina. The character of light responsiveness is attributed to the presence of photoreceptor cells here. Stargardt's disease is the most common cause of hereditary macular dystrophy. It is linked to disease-causing sequence variations/mutations in the ABCA4 gene on chromosome 1p21-p13, which destroys rod and cone cells within the retina. The disc membranes of rod and cone outer segments include an ATP-binding cassette transport protein encoded by the ABCA4 gene. All trans-retinal conjugates are transported across disc membranes by the ABCA4 protein. Abnormally high amounts of lipofuscin pigments build up in the retinal pigment epithelium (RPE) due to mutations in the ABCA4 gene, leading to RPE cell loss and secondary photoreceptor cell degeneration. As a result of this disease, the central or detailed vision becomes blurred, and the patient may find it challenging to discern colours. The retina presents with a distinctive "beaten -bronze" appearance due to the presence of prominent yellow dots. The phenotypic form of Stargardt disease, known as fundus flavimaculatus, is characterized by the widespread distribution of flecks throughout the fundus, including the periphery. In the given case report, we present a 46-year-old male patient who presented with complaints of persistence of a blind spot in central vision, difficulty in identifying faces, distortion of letters while reading, decreased visual acuity and difficulty in adapting from light to dark settings as symptoms. The stepwise assessment of the patient led to the diagnosis of Stargardt's disease. The case report reflects the disease history, pathogenesis, manifestations, prognosis, differential diagnosis and treatment options for this rare presentation.