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Purpose: To describe the clinical and genetic findings in a patient with autosomal recessive bestrophinopathy (ARB) and his healthy parents. Methods: The patient and his healthy non-consanguineous parents underwent detailed ophthalmic evaluations including electro-oculography (EOG), spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. Mutation analysis of the BEST1 gene was performed by Sanger sequencing. Results: The FAF images showed multiple spots of increased autofluorescence, and the sites of these spots corresponded to the yellowish deposits detected by ophthalmoscopy. SD-OCT showed cystoid macular changes and a shallow serous macular detachment. The Arden ratio of the EOG was markedly reduced to 1.1 in both eyes. Genetic analysis of the proband detected two sequence variants of the BEST1 gene in the heterozygous state: a novel variant c.717delG, p.V239VfsX2 and an already described c.763C>T, p.R255W variant associated with Best vitelliform macular dystrophy and ARB. The proband's father carried the c.717delG, p.V239VfsX2 variant in the heterozygous state, and the mother carried the c.763C>T, p.R255W variant in the heterozygous state. The parents who were heterozygous for the BEST1 variants had normal visual acuity, EOG, SD-OCT, and FAF images. Conclusions: In a truncating BEST1 mutation, the phenotype associated with ARB is most likely due to a marked decrease in the expression of BEST1 promoted by the nonsense-mediated decay surveillance mechanism, and it may depend on the position of the premature termination of the codon created. [ABSTRACT FROM AUTHOR]

Background: The purpose of this study was to determine baseline clinical factors to correlate the outcome of half-dose verteporfin photodynamic therapy (PDT) in eyes with chronic central serous chorioretinopathy (CSC). Methods: In this prospective, non-comparative, interventional case series, 14 eyes of 14 patients with chronic CSC who received half-dose verteporfin PDT were examined. The best-corrected visual acuity (BCVA), macular sensitivity in the central 4, 8, and 12 degrees, and fixation stability were evaluated at baseline and at months 1, 3, 6, and 12 after half-dose verteporfin PDT. Macular sensitivity and fixation stability were determined by MP-1 microperimetry. Results: Mean retinal sensitivity in the central 4 and 8 degrees was significantly better at 1, 3, 6, and 12 months after half-dose verteporfin PDT than at baseline. BCVA was significantly better after half-dose verteporfin PDT but only after 3 months. Fixation was relatively unstable in three eyes at baseline, but became stable at 12 months. BCVA at 12 months was significantly correlated with pre-PDT fixation stability (r = 0.7120, P = 0.0038). Conclusion: Half-dose verteporfin PDT results in a significant increase in mean central retinal sensitivity for at least 12 months. Our findings indicate that microperimetry is a useful method for evaluating the functional benefits of half-dose verteporfin PDT in eyes with chronic CSC. [ABSTRACT FROM AUTHOR]

To analyze the interaction of cortical potentials elicited by dichoptic stimulation of the dominant and fellow eyes at different frequencies, a pair of programmed power supply units were used to drive a light emitting diode (LED) mounted in the right and left eyes of light-proof goggles to elicit the visually evoked cortical responses (VECPs). The right eye was stimulated at 11.5 Hz and the left eye at 11.0 Hz. Then the stimulation was repeated with the frequency of stimulation switched to the other eyes. The stimulus duration was 5 ms. The sampling rate was 1.0 Hz, and the duration of collection was 200 ms. The VECP of each eye was extracted separately. Individual VECPs could be recorded separately after simultaneous dichoptic stimulation of each eye. The amplitudes of the VECPs were not significantly different after stimulating the dominant eye and the fellow eye separately. The implicit times of negative peak (N-2) and the second positive peak (P-2) were shorter after stimulation of the dominant eye than after stimulation of the fellow eye, but the difference was not significant. However, the implicit time of N-2 elicited by stimulating the dominant eye was significantly shorter when the stimulation rate was 11.5 Hz. The VECPs elicited by stimulating the two eyes can be recorded separately by simultaneous dichoptic stimulation. Dichoptic simultaneous stimulation required a shorter time and may be a more sensitive method of analyzing binocular interactions compared to the classic VECPs using monocular stimulation., (© 2014 ARVO.)

To compare a conventional cathode-ray tube (CRT) screen to organic light-emitting diode (OLED) and liquid crystal display (LCD) screens as visual stimulators to elicit multifocal electroretinograms (mfERGs), mfERGs were recorded from seven eyes of seven healthy volunteers (21 ± 2 years). The mfERGs elicited by a conventional CRT screen (S710, Compaq Computer Co.) were compared to those elicited by a studio-grade master OLED monitor (PVM-1741, Sony, Japan) and a conventional LCD (S1721, Flexscan, Eizo Nanao Corp., Japan). The luminance changes of each monitor were measured with a photodiode. CRT, OLED, and LCD screens with a frame frequency of 60 Hz were studied. A hexagonal stimulus array with 61 stimulus elements was created on each monitor. The serial white stimuli of the OLED screen at 60 Hz did not fuse, and that of the LCD screens fused. The amplitudes of P1 and P2 of the first-order kernels of the mfERGs were not significantly different from those elicited by the CRT and OLED screens, and the P1 amplitude of the first-order kernel elicited by the LCD stimuli was significantly smaller than that elicited by the CRT in all the groups of the averaged hexagonal elements. The implicit times were approximately 10 ms longer in almost all components elicited by the LCD screen compared to those elicited by the CRT screen. The mfERGs elicited by monitors other than the CRT should be carefully interpreted, especially those elicited by LCD screens. The OLED had good performance, and we conclude that it can replace the CRT as a stimulator for mfERGs; however, a collection of normative data is recommended., (© 2014 ARVO.)

Background: To determine whether the focal macular electroretinograms (FMERGs) are affected by the angle of incidence of the stimulating light on the retina, i.e., the Stiles-Crawford effect (SCE)., Methods: FMERGs were elicited by focal stimulation of the macula in three light-adapted macaque monkeys. The incidence of the light on the retina was varied from 0 to ±11.7°. The effects of the incidence and wavelengths of the stimulus on the SCE were determined., Results: The amplitudes of the FMERG components were largest when the stimulus beam entered the eye on the visual axis and passed through the center of the pupil. The amplitudes gradually decreased as the stimulus beam passed through the pupil more eccentrically and fell on the retina more obliquely. All components of the FMERGs were decreased with the decrease least for the amplitude of the d-wave., Conclusions: The decrease in the amplitudes of the FMERGs as the angle of incidence of the stimulus beam on the retina increases demonstrates that the SCE can be detected in adult macaque monkeys. This objective method of assessing the SCE suggests that this technique can be used to assess the alignment of cones in humans with different types of macular diseases.