Documenta Ophthalmologica最新文献

Purpose: Mutations in the cyclic nucleotide-gated (CNG) channel beta subunit (CNGB1) are an important cause of recessive retinitis pigmentosa. We identified a large animal model with a truncating mutation of CNGB1. This study reports the persistence of small, desensitized rod ERG responses in this model.

Methods: Dark-, light-adapted and chromatic ERGs were recorded in CNGB1 mutant dogs and age and breed matched controls. Comparisons were made with a dog model known to completely lack rod function; young dogs with a mutation in the rod phosphodiesterase 6 alpha subunit (PDE6A^-/-). Immunohistochemistry (IHC) to label the rod CNG alpha (CNGA1) and CNGB1 subunits was performed.

Results: The dark-adapted ERG of CNGB1 mutant dogs had a raised response threshold with lack of normal rod response and a remaining cone response. Increasing stimulus strength resulted in the appearance of a separate, slower positive waveform following the dark-adapted cone b-wave. With increasing stimulus strength this increased in amplitude and became faster to merge with the initial b-wave. Comparison of responses from PDE6A^-/- (cone only dogs) with CNGB1 mutant dogs to red and blue flashes and between dark-adapted and light-adapted responses supported the hypothesis that the CNGB1 mutant dog had residual desensitized rod responses. CNGB1 mutant dogs had a small amount of CNGA1 detectable in the outer segments.

Conclusions: CNGB1 mutant dogs have a residual ERG response from desensitized rods. This may be due to low levels of CNGA1 in outer segments.

Purpose: To investigate the applicability of liquid crystal displays (LCD) as suitable replacement for cathode ray tube monitors (CRT) as stimulator for the sweep VEP for estimating visual acuity.

Methods: In a first experiment, sweep VEPs were recorded in 13 healthy volunteers with best-corrected visual acuity with an LCD and a CRT monitor, respectively. Time-to-peak after stimulus and peak-to-trough amplitudes as well as the visual acuity, estimated using a second-order polynomial and the modified Ricker model, were compared between both monitor types. In a second experiment, sweep VEPs were recorded in six healthy volunteers with two levels of stimulus contrast using artificially reduced visual acuities as well as best-corrected with the same monitors as in the first experiment and additionally, a modern LCD gaming monitor with a response time of 1 ms. Time-to-peak after stimulus and peak-to-trough amplitudes were compared between the different combinations of monitors and contrasts. Finally, visual acuities estimated using the modified Ricker model were compared to subjective visual acuities determined using the Freiburg Visual Acuity and Contrast Test (FrACT).

Results: In the first experiment, the time-to-peak after stimulus presentation was statistically significantly delayed for LCD displays (mean difference [confidence interval]: 60.0 [54.0, 65.9] ms; t(516) = 19.7096, p < 0.0001). Likewise, peak-to-trough amplitudes were statistically significantly smaller for the LCD stimulator, however, not clinically relevant (mean difference [confidence interval]: - 0.89 [- 1.59, - 0.20] µV; t(516) =  - 2.5351, p = 0.0115). No statistically significant effect of the monitor type on the estimated visual acuity was found for neither method, second-order polynomial, nor the modified Ricker model. In the second experiment, statistically significant delays of the time-to-peak after stimulus onset were found for all combinations of monitor and contrast compared to the CRT monitor. A statistically significant, but not clinically relevant, difference of the peak-to-trough amplitudes was only found between the CRT monitor and the LCD gaming monitor (mean difference [confidence interval]: 2.6 [1.2, 4.0] µV; t(814) = 4.66, p < 0.0001). Visual acuities estimated from LCD stimulation significantly underestimated the subjective visual acuity up to 0.2 logMAR using the conversion formula of the first experiment. No statistically significant difference was found when using conversion formulas adjusted for each combination of monitor and contrast.

Conclusions: Based on the results of this study, LCD monitors may substitute CRT monitors for presenting the stimuli for the sweep VEP to objectively estimate visual acuity. Nevertheless, it is advisable to perform a calibration and to collect normative data of healthy volunteers using best-corrected and artificially reduced visual acui

Purpose: The purpose of this paper is to present a case study illustrating the importance of electrophysiological investigation in the diagnosis and serial monitoring of isolated congenital nystagmus.

Results: Serial electophysiological monitoring was undertaken in the male proband over a 9-year period commencing with initial assessment at 12 weeks of age: Skin electroretinograms (sERGs) were initially absent but subsequently revealed low-amplitude responses, electronegative morphologies and notched flicker responses suggestive of incomplete congenital stationary night blindness (CSNB2), but with an absent dark-adapted rod-specific response, while flash visual evoked potentials (fVEPs) demonstrated persistent crossed asymmetry, typical of albinoid misrouting of the optic nerves. Molecular investigation confirmed a novel hemizygous frame shift mutation in the CACNA1F gene, considered to be pathogenic and causative of X-linked CSNB2; additionally, a novel heterozygous missense variation in one copy of the RIMS1 gene was identified, pathogenic mutations of which underpin late-onset autosomal dominant cone-rod dystrophy (type 7). Segregation studies confirmed maternal inheritance of both mutations in the clinically asymptomatic mother in whom depressed rod-specific responses were confirmed on sERG. The child's visual acuity has remained stable as have the sERGs which have been verified by recordings using scleral electrodes.

Conclusions: The importance of recording ERGs as part of evaluating infants who present with nystagmus, even with a normal fundus appearance, is supported. Further, sERGs were able to distinguish an apparent variant of CSNB2 and could give consistent results over many years. FVEP results add to the evidence that albinoid misrouting of the optic nerves may occur in cases of CSNB2. ERGs and fVEPs can provide valuable information in discriminating the relative diagnostic importance of multiple genetic abnormalities.

Purpose: We studied the conditions under which c-waves of the electroretinogram (ERG), that represent retinal pigment epithelium (RPE) function, were detectable using an alternating current (AC) amplifier and whether the c-wave recorded using an AC amplifier was useful for evaluating RPE function.

Methods: We recorded ERG responses in rats to 5 s stimuli under the conditions in which the low-cut frequency and the stimulus luminance were varied. In addition, changes in ERGs were studied after intravenous injection of sodium iodate (SI) to induce RPE degeneration.

Results: The c-wave was detected clearly when the frequency of the low-cut filter was set at 0.01 Hz and light stimulus luminances were ≥ - 1.0 log cd/m². The c-wave was attenuated earlier than other waves (e.g., a-wave and b-wave) after SI administration.

Conclusions: The c-wave was easily detectable using an AC amplifier with the low-cut filter set at 0.01 Hz. Using the AC amplifier may allow easier c-wave recording, compared with the conventional use of a direct current (DC) amplifier, and could be useful for evaluating RPE function.

Purpose: To investigate the current status of electrophysiological test use in ophthalmology.

Methods: We analyzed 1057 electrophysiological tests conducted at Kim's Eye Hospital from January 1 to December 31, 2018. The included tests were electroretinogram (full-field, multifocal, and pattern ERG), electrooculogram (EOG), and visual evoked potential (pattern and flash VEP). To investigate the distribution of use of subspecialties, it was divided by subspecialties (retina, glaucoma, oculoplastic surgery, pediatric ophthalmology, neuro-ophthalmology, cornea, and external diseases).

Results: The patients were aged 50.6 years on average and included 624 men and 433 women. Among the electrophysiological tests, VEP was the most common, with 567 cases (53.6%), followed by ERG with 311 cases (29.4%) and EOG with 98 cases (9.3%). Regarding the purpose of use, the objective of visual function evaluation was the highest at 56.3%, followed by the differential diagnosis of unknown causes (33.0%) and the confirmation of diagnoses (10.7%). Both VEP and ERG were used the most for visual function evaluation, and mfERG was most used for differential diagnosis of unknown etiology. Electrophysiological tests were most often used in the retina department, but VEPs were used in various fields such as neuro-ophthalmology, glaucoma, and oculoplastics.

Conclusion: Electrophysiological tests are used to objectively evaluate visual function or discriminate diseases of unknown causes and are used in various departments. Electrophysiology testing is expected to be an additional test to assess visual function.

Purpose: To assess the structural and functional changes among diabetics with no diabetic retinopathy (NDR) and mild non-proliferative diabetic retinopathy (NPDR) using swept-source optical coherence tomography angiography (SSOCTA) and photopic negative response (PhNR) and to find the earliest changes.

Methods: This was a prospective, cross-sectional, case-control study. Participants with minimum 5 years of diabetes mellitus (DM) were recruited and classified as NDR and mild NPDR based on fundus findings. Age-matched normals with nil ocular pathology were considered as controls. SSOCTA scan acquisition (6*6 mm angiography), followed by full field photopic electroretinography (FFERG) and red on blue PhNR (R/B PhNR) were done with complete pupillary dilatation.

Results: A total of 88 participants were included with 35 controls, 39 NDR and 14 mild NPDR subjects. Vessel density of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) of mild NPDR were significantly reduced compared to the controls (17.12 ± 2.65 mm^-1 vs. 18.75 ± 0.90 mm^-1, p = 0.025 and 7.96 ± 3.92 mm^-1 vs. 11.83 ± 3.05 mm^-1, p = 0.001 respectively). None of the parameters of controls had significant difference compared to NDR group (p > 0.05). The amplitudes of white on white (W/W) a-wave, W/W b-wave, red on blue (R/B) PhNR baseline to trough (BT) and R/B PhNR peak to trough in controls were significantly high compared to NDR and mild NPDR. Amplitude of R/B PhNR BT had the maximum area under the curve of 75.9% with a sensitivity and specificity of 94.3and 77.4%, respectively.

Conclusion: A significant decrease in functional changes as measured by ERG especially PhNR, is seen even among the NDR group compared to controls unlike SSOCTA parameters that measures very early vascular structural changes. PhNR is a sensitive test to identify early preclinical changes in DR when microvascular structural changes as determined by SSOCTA are normal.

The stretching of a myopic eye is associated with several structural and functional changes in the retina and posterior segment of the eye. Recent research highlights the role of retinal signaling in ocular growth. Evidence from studies conducted on animal models and humans suggests that visual mechanisms regulating refractive development are primarily localized at the retina and that the visual signals from the retinal periphery are also critical for visually guided eye growth. Therefore, it is important to study the structural and functional changes in the retina in relation to refractive errors. This review will specifically focus on electroretinogram (ERG) changes in myopia and their implications in understanding the nature of retinal functioning in myopic eyes. Based on the available literature, we will discuss the fundamentals of retinal neurophysiology in the regulation of vision-dependent ocular growth, findings from various studies that investigated global and localized retinal functions in myopia using various types of ERGs.

Purpose: To describe vitamin A deficiency using multimodal functional visual assessments and imaging.

Methods/case: A 50-year-old female with past medical history significant for Roux-en-Y gastric bypass surgery complained of nyctalopia and "yellowing" of vision.

Results: Vitamin A levels were noted to be < 0.06 mg/L (normal 0.3-0.12 mg/L). Fundus examination was notable for peripheral yellow punctate lesions, superior arcuate defects on HVF 30-2 testing, an indistinct ellipsoid zone on SD-OCT, and absent rod responses and severely reduced amplitudes for the cone photoreceptors on full-field ERG. These findings resolved with initiation of parenteral vitamin A supplementation.

Conclusion: This report documents an example of vitamin A deficiency in the developed world. We aim to provide a comprehensive description of clinical examination and multimodal imaging findings before and after vitamin supplementation for vitamin A deficiency.

Background: In addition to motor findings, non-motor findings including alterations in visual acuity, decrease in blink reflex, and pupil reactivity cause the impaired quality of life in idiopathic Parkinson's disease (PD) and multiple system atrophy (MSA). Our study aimed to examine possible latency and amplitude changes in pattern visual evoked potentials (pVEP) along with retinal and macular changes in optical coherence tomography (OCT) in PD and MSA groups. We also intended to investigate whether any OCT parameters could be a biomarker for Parkinson's or MSA.

Methods: Our study included 50 patients with PD, 15 with MSA, and 50 healthy control subjects. All patients in the study underwent neurological and ophthalmological examination and investigations of OCT to measure the retinal and macular thickness and pVEP to assess visual pathways.

Results: When PD, MSA, and control groups were compared, a significant difference was found in all retinal thickness values in average, nasal, and superior retinal nerve fiber thickness (pRNFL), and in all macular thickness values except nasal outer and inferior outer quadrants and in ganglion cell complex (GCC) thicknesses (p < 0.05). Moreover, a significant difference was found in N75, P100, and N145 latencies and N75-P100 amplitude (p < 0.05). The thickness of both pRNFL, inner and outer macular quadrants, was thinner in the MSA group than in PD but GCC thickness was thinner in PD group.

Conclusions: The present study compared pVEP and OCT parameters in PD and MSA groups. It was concluded that pVEP and OCT examinations were of importance in that they were easily accessible, affordable, noninvasive biomarkers that might be used in early periods and progression of the disease and in follow-up.