Fig. 3.

Phenotypic characterization of the right eyes of two representative individuals of family A with the pathogenic variant in the PRPF8 gene. Each panel has two parts; the upper part depicts the visual field printouts of the Humphrey Field Analyzer (HFA), and the lower part shows screenshots from Heidelberg Retina Tomograph II (HRT) analysis to detect loss of the papillary neuroretinal rim. a HFA and HRT results for the 67-year-old proband (individual II-3 of family A) are shown. The large dark areas in the HFA results correspond to glaucomatous scotomas due to nerve fiber layer defects. HRT scans demonstrate glaucomatous increased optic disc cupping and suspect (exclamation marks) or manifest pathological (crosses) neuroretinal rim measures (according to the Moorfield’s regression analysis) within the different quadrants of the optic disc. b HFA and HRT results for a 61-year-old, unaffected sibling (individual II-2 of family A) of the proband are shown for comparison. HFA results indicate that there is no darkening due to glaucomatous defects on HFA. The small temporal black area corresponds to the physiological blind spot. HRT results (with only green tick marks) show no thinning of the neuroretinal rim