Juvenile-onset macular dystrophy associated with ABCA4 gene characterized by progressive loss of central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
Symptoms typically develop within the first two decades of life and include progressive, irreversible loss of central and color vision and delayed dark adaptation. The peripheral visual field is normal and there is no complaint of night blindness. Nevertheless, the natural course of the disease is characterized by marked clinical variability with regards to the age of onset, the pattern of fundus lesions, and the rate of progression.
Bilateral central visual loss
Characteristic macular atrophy and yellow–white flecks at the level of the retinal pigment epithelium (RPE) at the posterior pole
Fundus autofluorescence (FAF):
Hypoautofluorescence at level of RPE atrophy
Hyperautofluorescence corresponding to flecks
Fundus fluorescein angiography (FFA) & indocyanine green angiography (ICGA)
Silent choroid/dark choroid due to masking of background choroidal fluorescence by diffuse RPE abnormality