Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.

PURPOSE

We evaluated the efficacy of column scatter plots to describe genotype-phenotype correlations in a Japanese cohort with retinitis pigmentosa (RP).

METHODS

Clinical records of 121 patients with RP with identified causative mutations were reviewed. Visual acuity, central and peripheral visual fields, electroretinography (ERG), lens status, and measurements of optical coherence tomography were evaluated according to causative genes using column scatter plots. Values for three common genes (, , and ) were compared statistically.

RESULTS

All patients with , , and mutations, those 55 years old or younger with and mutations, and those 45 years old or younger with and mutations retained visual acuity of at least 0.1. All patients with mutations showed at least -20 dB mean deviation. Goldmann perimeter measures of 4/6 patients with mutations showed remaining peripheral visual fields. Dark-adapted 0.01 and 3.0 ERGs were extinguished for most genes. Half of the patients with RP maintained cone responses in light-adapted 3.0 and 3.0 flicker ERG. All patients with , those 55 years old or younger with and , and those 45 years old or younger with and mutations maintained subfoveal ellipsoid zones. No differences were identified between and or and .

CONCLUSIONS

Column scatter plots enabled comparisons of the associated severities and illustration of the ophthalmological measurements for every RP causative gene.

TRANSLATIONAL RELEVANCE

Analysis of mutations in specific genes may be helpful for determining visual prognoses in the clinical setting.