These results indicate that the fundamental components of the RETeval flicker ERGs are significantly affected by the axial length, pupillary area, and sex of young healthy subjects. The results also suggest that it would be better to compensate for the Stiles-Crawford effect when flicker ERGs are recorded with natural pupils.

Purpose To investigate clinical characteristics of RDH5 -related fundus albipunctatus (FAP) in a Japanese cohort. Methods Twenty-five patients from 22 pedigrees with RDH5 -related FAP were studied. Ophthalmic medical records were reviewed. For genetic analysis, either Sanger sequencing of the RDH5 gene or whole-exome sequencing was performed. Results Genetic analysis identified eight different RDH5 variants, including seven known RDH5 variants (p.G35S, p.G107R, p.R167H, p.A240GfsX19, p.R278X, p.R280H, and p.L310delinsEV) and a novel variant: c.259C>T (p.Q87X). The most frequently observed variant was p.L310delinsEV (65.2%, 30/46 alleles). Of 50 eyes examined, 44 eyes (88.0%) showed logMAR best-corrected visual acuity (BCVA) of 0.10 or better. In optical coherence tomography, macular involvement was observed in 12 patients (24 eyes). Ten patients (83.3%) who had good BCVA (0.10 or better) exhibited diffuse disruption of the outer retina with foveal sparing, and two patients (16.7%) exhibited diffuse disruption throughout the macula and decreased BCVA. Among the 24 eyes, ring-or crescent-shaped hyperautofluorescence or irregular autofluorescence around the fovea was observed in 15 eyes (83.3%) of 18 eyes examined by fundus autofluorescence imaging. Full-field electroretinography showed extinguished or severely decreased rod responses in all 23 examined patients, whereas decreased cone responses were seen in 17 patients (73.9%). Conclusions Multimodal imaging and electroretinography of RDH5 -related FAP revealed high frequencies of macular involvement in older patients and decreased cone responses. Our findings suggest that progressive macular/cone dysfunction, as well as delayed rod function, may be key phenotypic features of RDH5 -related FAP.

To determine whether there is a significant correlation between the amplitude of the photopic negative response (PhNR) and the peripapillary retinal nerve fiber layer thickness (pRNFLT) in eyes of young, healthy subjects. Methods: We analyzed 136 eyes of 136 young, healthy subjects (89 males and 47 females; age, 20-29 years). The PhNRs were recorded with the RETeval system without mydriasis using red flashes on a blue background. PhNR amplitude was measured at two points: at 72 ms (P 72) and at the negative trough following the b-wave (P min). Univariate and multivariable linear regression analyses were performed to identify the independent variables that were significantly correlated with P 72 and P min. The variables included age, sex, axial length, pRNFLT, intraocular pressure (IOP), a-wave amplitude, b-wave amplitude, and pupillary area during the electroretinogram recordings. Results: The amplitudes of P 72 and P min were significantly larger in female subjects (P = 0.021 and P = 0.001, respectively). Univariate analyses showed that PhNR amplitudes were significantly correlated with pRNFLT

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