Portal de Periódicos da CAPES

Dominantly inherited drusen of Bruch's membrane.

1970; BMJ; Volume: 54; Issue: 6 Linguagem: Inglês

10.1136/bjo.54.6.373

1468-2079

August F. Deutman, Lea Jansen,

Soft tissue tumor case studies

Hyaline bodies may be found in the optic disc and in several parts of the retina as a non- specific finding (Wolter, 1959).The term drusen ("colloid bodies") is usually reserved for large hyaline bodies of the optic disc and Bruch's membrane.Lorentzen (I966), postulated that drusen of the optic disc had an irregular dominant pattern of inheritance after an examination of the relatives of 49 affected individuals.Drusen of Bruch's membrane are found in several degenerative conditions and systemic diseases and are often a senile manifestation (Duke-Elder, I967).Not infrequently, however, they are the result of a primary hereditary dystrophy, usually transmitted as a regular dominant trait.In spite of their common designation, which is based on the ophthalmoscopic appear- ance, the histochemical properties of drusen of the optic disc and of Bruch's membrane are somewhat different (Seitz and Kersting, I962).This is understandable as the former consist of degenerative products of the nerve fibres, and the latter of degenerative products of the retinal pigment epithelium (Seitz, I968).Hereditary drusen of Bruch's membrane are known by a variety of names such as Tay's central guttate choroiditis, Holthouse-Batten's superficial chorioretinitis, Doyne's honey- comb choroiditis, and malattia leventinese.Franceschetti, FranSois, and Babel (i963) regard hereditary drusen of Bruch's membrane as a single entity, but also recognize the four different types mentioned above; this leads to much confusion.With Waardenburg (1948), Forni and Babel (I962), Franceschetti and others (I963), Krill and Klien (I965), and Duke-Elder (I967), we think that all dominantly inherited drusen of Bruch's mem- brane constitute one clinical entity.The three cases described by Hutchinson and Tay (i 875) and the one case reported by Holthouse and Batten (i 897) do not represent separate entities, and the differential diagnosis between Doyne's honeycomb choroiditis (Doyne, I899, I9io) and malattia leventinese (Vogt, 1925; Klainguti, I932) is impossible, as the ophthalmoscopic, functional, histological, and hereditary properties are identical in both conditions (Treacher Collins, I9I3; Forni and Babel, I962; Pearce, I968).Drusen of Bruch's membrane can thus be divided into the two following categories: degenerative and hereditary.The hereditary drusen constitute one of the dystrophies of the central retina of which there are several distinct types, including Stargardt's disease, vitelliform dystrophy of the fovea, fundus flavimaculatus, and reticular dystrophy of the pigment epithelium (Sjogren).For this clinical entity we suggest the name "dominant drusen of Bruch's membrane".