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Clinical Cases
Age range -
Instants range -
Exam type

Familial Dominant Drusen

Familial Dominant Drusen - Start  
Familial Dominant Drusen - End  

Familial Dominant Drusen (Malattia Leventinese) is a disease characterized by the appearance of drusen in or beyond the macula, typically at an early stage, and following an autosomal dominant pattern of inheritance. Most cases are due to mutations in the EFEMP1gene. Mild disease present small discrete innocuous hard drusen confined to macula. Large soft drusen at the posterior pole and peripapillary region are present at moderate disease.  Some patients may develop choroidal neovascular membranes or geographic atrophy in advanced disease.

The onset of symptoms occurs during the third or fourth decade and includes decreased visual acuity, metamorphopsia and paracentral scotoma. Central vision is good as long as the drusen are discret and extrafoveal.

Differential Diagnosis:

Best disease (in its later stages)

Stargardt disease

Sorsby macular dystrophy

Pattern dystrophies

Zermatt macular dystrophy

Clinical Cases 20 0