Table 1 of
Rivolta, Mol Vis 2006;
12:1511-1515.Table 1 of
Rivolta, Mol Vis 2006;
12:1511-1515.
Table 1. Diagnoses of 613 patients who were evaluated
The right column indicates the highest portion of hypothetical peropsin-related cases compatible with finding no peropsin mutation in the number of patients evaluated with a 95% confidence interval; it was computed as using a method described in reference [18]. For example, one would have a 95% chance of finding at least one peropsin-related case of recessive RP among a set of 200 unrelated cases if peropsin were responsible for 1.5% or more of all recessive retinitis pigmentosa (RP) cases. Because our analysis excluded some patients who had previously been found to have mutations in other disease genes, the effective number of patients evaluated is higher. This would cause the percentages listed in the right column to be conservative estimates; i.e., the true percentages would be lower.
Hypothetical
maximum
prevalence
of peropsin
mutations
(95%
Diagnosis Patients screened confidence)
----------------------------------------- ----------------- ------------
Retinitis pigmentosa, autosomal recessive 200 1.50
Retinitis pigmentosa, autosomal dominant 93 3.2
Cone-rod retinal degeneration 86 3.4
Retinitis pigmentosa, atypical 76 3.9
Leber congenital amaurosis 66 4.4
Diffuse atrophy of the retinal pigment 31 9.2
epithelium
Generalized choroidal sclerosis 28 10
Sector retinitis pigmentosa 10 26
Cone degeneration 9 28
Clumped pigmentary retinal degeneration 9 28
Retinitis punctata albescens 5 45
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