© Bernard PUECH
Page 1
X-Shaped Macular Dystrophy with
Flavimaculatus Flecks
B. Puech
1
, J-C. Hache
1
, P. Turut
2
, P. François
1
1
Ophthalmology, Hôpital Régional de Lille, France
2
Ophthalmology, Hôpital Régional d'Amiens, France
Key Words: X-shaped macular dystrophy, Flavimaculatus flecks, Stargardt'sodisease,
Fundus flavimaculatus, Flecked-retina diseases.
Abstract: Two families showed a retinal pigment epithelial dystrophy characterized by an
X-shaped yellowish macular lesion and numerous flavimaculatus retinal flecks. Nine members were
variously affected. The condition was bilateral, had a dominant inheritance and started in middle
age with a slow-developing macular lesion. Visual functions were often minimally disturbed for 2
or 3 decades. The flavimaculatus flecks which differed in number appeared only as secondary
phenomena yet increased in number and size. At the onset of the disease, the ERG and EOG as well
as colour vision were normal and became altered only in the course of a very slow process.
Fig.1: Pedigree of families A and B
Introduction:
In the early sixties, Franceschetti [2] introduced the term fundus flavimaculatus in order
to discriminate, from the r est of flecked-retina abnormalities (table 1), a specific aspect of the
eyeground characterized by numerous, pisciform, deep, yellowish retinal flecks with fuzzy
borders. His new entity assumed two major forms: the first one did not entail macular
involvement, was non-evolutive and was said to be the 'pure', the other one was characterized by
macular involvement [2].
Following the claim of Irvine and Wergeland in 1972 [6], in 1975, we [3, 13] claimed that
Stargardt's disease and fundus flavimaculatus were one and the same, which conclusion has since
been agreed l.;lpon by all the authors. Indeed, we had never found a form of fundus