Hereditäre Drusen der Bruchschen Membran

Abstract

The left eye of a 71-year-old patient who had suffered from choroiditis guttata was removed immediately after death by enucleation. Histopathological studies revealed numerous nodular (hard) drusen, a wide variety of senile alterations of the pigment epithelium and Bruch's membrane, and the presence of multiple corpora arenacea in the subarachnoid space of the optic nerve. A new hypothesis concerning the development of hereditary drusen is advanced, postulating a disturbance of the lysosomal enzyme/inhibitor balance.

Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy)

“…21 This is likely to be due to the presence of the confluent macular deposits in the subgroup studied. The basis of diminished retinal function over areas of confluent deposits are compatible with one or more of the following explanations: decreased outer retinal photopigment content, 66 photoreceptor misalignment, 4,6,49,55 retinal pigment epithelial dysfunction, 56 and delayed metabolic exchange across a thickened Bruch's membrane. [67][68][69] The mutated protein EFEMP1 identified in ML and DHRD, is homologous to fibulins, which are extracellular matrix glycoproteins that bind to elastic fibers 70 and through attachments to nidogen, interact with collagen IV and laminin in basement membranes.…”

“…This pattern is consistently visible in some reported dominant drusen families [4][5][6][7]15,[22][23][24] but is not present in others. 11,12,15,[41][42][43][44][45][46][47][48][49] This phenotype has now been demonstrated in both ML and DHRD and is associated with the EFEMP1 mutation. There are superficial similarities between these small radial drusen and multiple small drusen of uniform size for which the term basal laminar or cuticular drusen has been used.…”

“…However, there are minor differences in appearance, which imply that these do not represent a single entity. The small drusen seen in our patients are thin, uniform in size, and radially aligned to the fovea whereas so 49,[55][56][57] Genetic testing of patients with cuticular or basal laminar drusen for the EFEMP1 mutation should help to determine the relationship between this disorder and ML/DHRD. There are conflicting reports regarding the functional attributes of various dominantly-inherited drusen syndromes with respect to the ERG and EOG, [4][5][6]8,15,41,46,47,56,[58][59][60][61][62][63] colour vision, 4,8,11,44,58,64 and dark adaptation.…”