Clinical Spectrum in Autosomal Dominant Stargardt’s Macular Dystrophy with a Mutation in ELOVL4 Gene

Abstract

In 1909, Stargardt reported a recessively inherited progressive atrophic macular dystrophy associated with perifoveal flecks1. This condition, now termed Stargardt’s macular dystrophy, presents insidiously within the first two decades of life with a gradual loss of central vision1,2,3,4,5. In the early course of the disease, fundus abnormalities on ophthalmoscopy may be minimal despite a marked reduction in visual acuity. Visual acuities often deteriorate to range between 20/200 to 20/4006. It is the most common form of hereditary macular dystrophy, and accounts for 7% of all retinal dystrophies7. The estimated incidence of Stargardt’s macular dystrophy is 1 in 10,0007,8. Classic ophthlamoloscopic findings associated with Stargardt’s macular dystrophy are bilateral atrophic macular lesions and yellow-white flecks at the level of the retinal pigment epithelium at the posterior pole8. Since that time, numerous reports have elaborated upon the genetics and clinical variations of Stargardt’s macular dystrophy. Franceschetti later coined the term “fundus flavimaculatus” to describe a fundus morphology characterized by the presence of white-yellow retinal flecks, which were scattered throughout the posterior pole and may extend out to the midperiphery9. In fundus flavimaculatus, midperipheral flecks are more prominent than the central macular flecks. Both Stargardt’s macular dystrophy and fundus flavimaculatus have been found to exhibit much clinical variation in phenotypic expression and rates of progression. Despite attempts to delineate a clear distinction between the two conditions, the clinical similarities, the occurrence of both within single pedigrees, and the results of linkage analysis all support the belief that Stargardt’s macular dystrophy and fundus flavimaculatus both result from allelic mutations in the same gene2,3,4.