Ophthalmology Research: An International Journal

Aims: To describe a Stargardt disease, (STGD1) is an autosomal recessive inherited disease often associated with mutations in ABCA4 and characterized by the accumulation of autofluorescent lipofuscin deposits in the retinal pigment epithelium (RPE).

Presentation of Case:  J.A.D.L, male, 52 years old, foreman, born in Rio de Janeiro, attends the ophthalmologic consultation complaining of progressive low visual acuity, noticed at around 31 years of age.

Discussion: Stargardt disease is the most common hereditary macular dystrophy, representing 7% of retinal dystrophies. The first and only clinical manifestation is the decrease in central vision, which predominantly starts between six and fifteen years of age.

Methodology: Case report.

Results: Therefore, the referral of young patients with visual complaints without initial abnormalities of the fundus of the eye for ophthalmological evaluation is essential, since the diagnosis of patients at an early stage of the disease is increasingly important with the advent of new therapeutic possibilities.

Conclusion: Although many factors contribute to the phenotype of patients with STGD1, the expression and residual activity of ABCA4 mutants play an important role in determining disease severity.

Retinal thickness and disease duration influence the visual prognosis of patients. Patients with Stargardt's disease have a smaller macular thickness when compared to normal individuals, and this reduction is related to the duration of the pathology. Therefore, OCT is fundamental for the follow-up of these patients, contributing to a better prognostic assessment of the disease.