Stargardttauti

Stargardttauti, known in English as Stargardt disease or juvenile macular dystrophy, is a hereditary retinal disorder that primarily affects central vision. It most commonly presents in adolescence or early adulthood, though onset can vary. The condition is typically autosomal recessive and results from mutations in the ABCA4 gene, which encodes a transporter protein in photoreceptor outer segments.

Pathophysiology centers on impaired the visual retinoid cycle due to ABCA4 dysfunction, leading to the accumulation of toxic lipofuscin compounds such as A2E within the retinal pigment epithelium. This lipofuscin buildup damages the RPE and overlying photoreceptors, especially in the macula, causing gradual central vision loss.

Clinically, patients experience progressive central scotomas, decreased visual acuity, and sometimes metamorphopsia. Color vision may be relatively preserved early on. Fundus examination can reveal subtle changes around the fovea, followed by discrete pisciform (fish-shaped) flecks and later macular atrophy. Fluorescein angiography may show a characteristic “dark choroid” sign; multimodal imaging, including fundus autofluorescence and optical coherence tomography, shows macular involvement with photoreceptor and RPE damage.

Diagnosis relies on clinical features supported by genetic testing confirming ABCA4 mutations. Examinations such as OCT and autofluorescence help assess disease extent and progression.

There is no cure. Management focuses on visual rehabilitation and adaptation, low-vision aids, and protective strategies (including sunglasses). Vitamin A supplementation is generally discouraged due to potential lipofuscin accumulation. Ongoing research explores gene therapy and other disease-modifying approaches, along with advances in stem-cell–based and pharmacologic treatments. Prognosis varies; central vision typically declines gradually, with preserved peripheral vision in many cases.