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Dominant Drusen

Familial Drusen are also known as Dominant Drusen of Bruch's  Membrane.  It is still controversial whether they represent a distinct entity or are just an early manifestation of AMD and  are the same acquired degenerative drusen of senescence .
Familial drusen follow an autosomal dominant pattern of inheritance. The onset of symptoms is during the third or fourth decade (earlier than AMD).
Drusen are bilaterally, symmetric, multiple, deep, yellow -white lesions. Paitents become symptomatic from an associated exudative or non-exudative  detachment, at the level of the RPE.
Fluorescin angiography  reveals RPE transmission corresponding to the areas of drusen  deposition and overlying RPE atrophy /thinning. Occasionally a neovascular membrane is  revealed.
ERG is usually normal, while the EOG is subnormal especially in advanced disease.
Visual fields, dark adaptation and color testing are normal.
Histopathologic studies discriminate between inherited and age-related drusen.
Inherited dominant drusen are nodular thickening of the RPE  basement membrane, at least early in the disease.
Age-related degenerative drusen are focal collections of eosinophilic homogenous material lying between the BM of the RPE and the collagenous portion  of  Bruch's membrane. EM studies demonstrate that drusen are conglomerates of denatured mitochondria, pigment granules, photoreceptors  remnants, residual bodies and debris from degenerating RPE. 
Chemically they consist of cerebroside and sialic acid, sometimes bound to mucin.
Unfortunately,  there is no  known treatment proven effective for dominant drusen.

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