Hereditary macular degeneration-a population survey in the county of Västerbotten, Sweden

Abstract

From a total of 21 probands, found mainly by a thorough study of case records at the department of Ophthalmology, the University Hospital, Umeå, a total of 95 cases of hereditary macular degeneration were traced by genealogical and clinical investigations in the county of Västerbotten, Sweden. 75 of the cases belong to the same family, with a total of 125 affected members, 65 men and 60 women. 23, however, were dead, and 27 had left the county when the survey was finished. The disease has been traced back to a settler who came from Dalecarlia, and he is probably related to a Dalecarlian family with hereditary macular degeneration described by Barkman in 1961. The family is presented in three pedigrees. The defect is inherited as an autosomal dominant trait with a very high but not complete penetrance and a very variable expressivity. Age of onset of the deterioration of sight varies from early childhood to more than 50 years. 20 of the 95 cases belong to some smaller, separate families with varying heredity, presented in nine pedigrees. Seven cases, representing all known patients with a condition resembling hereditary macular degeneration for which no heredity could be proved are also presented.

Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark

“…7 In that study, which was performed long before the identification of BEST1 as the gene underlying Best disease in 1998, 12 prevalence estimate was based on 95 identified cases, 75 of whom belonged to a single family. The prevalence estimate found in our study is more than 10 times lower, which underscores the influence of founder mutations and large families on national prevalence rates.…”

“…A previous estimate of its prevalence, carried out in Northern Sweden, arrived at 2 per 10,000. 7 The typical manifestations and progression of Best disease through different clinical stages based on ophthalmoscopical fundus appearance has been known for decades, describing the pattern and evolution of vitelliform alterations ranging from Stage 0 with a normal fundus to Stage 4 with fibrosis or atrophy. 1 Further characterization of microstructural alterations by optical coherence tomography, fundus autofluorescence imaging and histopathology has revealed lipofuscin accumulations in and around the retinal pigment epithelium, subretinal fluid, and varying amounts of photoreceptor atrophy.…”

Bestrophin 1 and retinal disease

“…Even in this group, the data are skewed towards the incidence in a northern European population. In Sweden, the incidence was noted to be 2/10,000 (Nordstrom, 1974). In Denmark, the incidence was thought to be 1.5/100,000 (Bitner et al, 2012).…”

Urinary Metabolic Studies in Hereditary Macular Degeneration

“…(Full details of this family will be presented elsewhere, Nordstrom (1974).) From pedigree 1, 80 members were available for urinary metabolic examination.…”