Introduction:

Stargardt´s Disease or fundus flavimaculatus is the most frequent juvenile macular dystrophy that is responsible for 7 % of macular dystrophies. They can be difficult to address because of several reasons. The differential diagnosis is sometimes difficult to make and some of these diseases can cause legal blindness at a relatively young age.

Objective:

To describe the diagnostic process of an unusual entity with an infrequent form of presentation.

Case presentation:

We present a case of a 21-year-old white female patient with the diagnosis of Stargardt´s Disease with fundus flavimaculatus. The diagnosis was made taking into account personal pathological antecedents, the physical examination by direct and indirect ophthalmoscopy, assessment of visual acuity with and without correction, color vision test, fluorescein angiography, optical coherence tomography (OCT), and electroretinogram. Research on the topic was carried out because of the unusual appearance of these two variants of the same disease in the first decade of life.

Conclusions:

The majority of retinal dystrophies are similar from the clinical point of view; however, their evolution and prognosis can be different.

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