Fig. 3: Retinal abnormalities in optical coherence tomography images by PTPRB rs113791087 genotype status in UK Biobank.

Optical coherence tomography (OCT) images of 266 participants with the rs113791087 G allele (GG or GT genotype) and 442 age-matched participants lacking the G allele (TT genotype) were obtained from UKB. Images were independently evaluated by 3 retina specialists who were blinded to genotype. Each grader was tasked with identifying and categorizing retinal pigment epithelium (RPE) abnormalities according to the following categories: rare drusen (1−5), drusen (>5), pattern dystrophy, pigment epithelial detachment (PED) or nonspecific RPE irregularity, and other rare findings (subretinal fluid, pachychoroid pigment epitheliopathy, atrophy, intraretinal fluid, or evidence of central serous chorioretinopathy). Panel a depicts a B-scan superior to the fovea showing an area of RPE irregularity and pigment migration (arrowhead) from a randomly selected participant, who had the TT genotype. Panel b depicts a B-scan inferior to the fovea showing a second area of RPE irregularity and pigment migration (arrowhead) in the same participant. Panel c shows the prevalence of abnormalities (denoted with circles) for participants with the GG or GT genotype (red) and TT genotype (blue). Statistical significance was evaluated using logistic regression, including age, sex, examiner and the first 10 PCs as covariates. The P-value is two-sided and not adjusted for multiple comparisons. Binomial proportion 95% confidence intervals were calculated using the Agresti-Coull method. Optical coherence tomography images are reproduced by kind permission from UK Biobank ©.