Stephen P. Daiger

TL;DR: The current approaches to gene discovery and mutation detection for retinitis pigmentosa are summarized, and pitfalls and unsolved problems are indicated.

TL;DR: This perspective addresses questions specifically for retinitis pigmentosa, but the observations apply generally to other forms of inherited eye disease.

TL;DR: It is shown that the presence of ‘non‐detectable’ alleles can produce pseudo‐homozygosity and their frequencies can be predicted from the observed proportional heterozygote deficiency, and the gene‐count method provides over‐estimates of allele frequencies in the sample population, and hence the Hardy Weinberg predictions of genotype frequencies avoid wrongful bias against suspects in forensic applications of DNA typing data.

TL;DR: Based on this large survey, the prevalence of disease‐causing mutations in each of these genes within specific disease categories is estimated and these data are useful in estimating the frequency of specific mutations and in selecting individuals and families for mutation‐specific studies.

TL;DR: Four CRX mutations in families with clinical diagnoses of autosomal dominant cone-rod dystrophy, late-onset dominant retinitis pigmentosa, or dominant congenital Leber amaurosis are identified, and four additional benign sequence variants are identified.