Autosomal dominant Stargardt-like macular dystrophy.

Autosomal dominant Stargardt-like macular dystrophy is one of the early onset macular dystrophies. It is characterized clinically in its early stages by visual loss and by the presence of atrophic macular changes with or without the presence of yellowish flecks. It is an important retinal dystrophy to study, not only because it has implications in the care and treatment of patients with the condition, but because it also provides important information regarding retinal function. Review of the literature suggests that many of the reported families are linked to chromosome 6q. Genetic and genealogical evidence suggests that these families have descended from a common ancestor or founder. The recent identification of a disease-causing gene that is involved in fatty acid metabolism may have implications in the study of the more common age-related macular degeneration. We review the recent clinical, genetic, and genealogical aspects of autosomal dominant Stargardt-like macular dystrophy.

Stargardt's macular dystrophy--a patient's perspective.

PURPOSE: The purpose of this paper was to evaluate life experience, including disease characteristics, daily-living activities, employment, interactions with health care professionals, and support services in patients diagnosed with Stargardt's macular dystrophy. METHODS: More than 200 patients with Stargardt's disease responded to a 68-question survey. Results were analyzed using SAS Statistical Analysis Package. RESULTS: Of 203 responders, 142 (70%) were women. Early disease onset occurred in more than 60% of patients. Blurred vision (134, 66%) and glare (183, 90.1%) were the leading symptoms reported. Reading (116, 57.1%), driving (86, 42.4%), and recognizing faces (66, 32.5%) were daily-living activities most difficult to perform. Patients with early disease onset had worse vision at presentation (p = 0.001), faster progression of visual loss (p = 0.007), and were more often diagnosed with a non-physiological visual loss (p = 0.007). Patients with late disease onset had more difficulty with orientation and coping skills (p = 0.02). Sixty-five percent of evaluated adults (108 of 165) were employed. CONCLUSIONS: Although the study illustrates that patients with Stargardt's disease can contribute and function well in contemporary society, issues related to depression, and availability and quality of health care, are still major concerns for this patient population. The study shows differences in progression of visual loss between patients, with early versus late disease onset indicating that age at onset and visual acuity at presentation might be two important factors influencing patient's visual prognosis. Finally, the study suggests parallels in psychological profiles between late age at onset Stargardt's disease and age-related macular degeneration patients.