Histopathology and Immunocytochemistry of the Neurosensory Retina in Fundus Flavimaculatus

Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration

“…Both show delayed dark adaptation, elevated phosphatidylethanolamine in retina, elevated A2PE-H 2 and A2E in RPE cells, and accumulation of lipofuscin pigments in RPE (5,6,11,12). Given the physiological, biochemical, morphological, and genetic similarities between abcr Ϫ/Ϫ mice and Stargardt's patients, a treatment that ameliorates the mouse phenotype should have a similar effect in humans.…”

“…Recessive Stargardt's disease is an inherited form of macular degeneration with an onset of central visual loss during childhood (3) and an estimated prevalence of Ϸ1͞10,000 (4). Pathologically, Stargardt's disease is associated with accumulation of fluorescent lipofuscin pigments in cells of the retinal pigment epithelium (RPE) (5,6). The RPE is a layer of cells adjacent to the retina that plays a critical role in photoreceptor survival (7).…”

“…Significant accumulation of A2E is seen in RPE cells from abcr Ϫ/Ϫ mice (11,12) and patients with Stargardt's disease (5,6,12). A2E forms by sequential condensation of atRAL with phosphatidylethanolamine ( Fig.…”

Lipofuscin of the retinal pigment epithelium: A review

“…Fundus flavimaculatus is the collective name given to a group of inherited macular dystrophies, the majority of which are transmitted in autosomal recessive fashion. 68 In fundus flavimaculatus the RPE cells contain up to 7 times more lipofuscin than normal and this is associated with RPE cell degeneration and second ary atrophy of photo receptors and choriocapil laris.68.69 In vitelliform macular degeneration, a disease with autosomal dominant inheritance, there is a marked accumulation of lipofuscin both within and beneath the RPE cells. Even at an early stage in the disease, the electro-oculogram is subnormal due to loss of the ability of the RPE cells to maintain a normal transepithelial potential.…”

Novel mutations in of the ABCR gene in italian patients with Stargardt disease

“…3 STGD is distinguished by a diffuse accumulation of toxic metabolites (lipofuscins) within the retinal pigment epithelium (RPE) with consequent disomogeneity and focal hypertrophy of the same RPE, and subsequent photoreceptors atrophy. 4 Fundoscopy usually manifests a macular atrophy, often associated with typical fishtail white-yellowish spots spread at the posterior pole, and sometimes at retinal midperiphery (flecks). In the past, the presence of flecks was considered a well-marked disease ('fundus flavimaculatus'), which could be associated or not with atrophic maculopathy.…”