Documenta Ophthalmologica最新文献

Purpose: Multiple mitochondrial syndromes, such as Kearns-Sayre, involve the concurrence of diabetes mellitus and inherited pigmentary retinopathy. It is rare, however, for proliferative disease to develop in these patients as existing inner retinal dysfunction is thought to be protective.

Methods: To our knowledge this is the first description of proliferative diabetic retinopathy (PDR) in Kearns-Sayre syndrome.

Conclusion: A number of additional considerations need to be recognised when treating PDR in Kearns-Sayre syndrome. Given the risk of further visual field losses with panretinal photocoagulation, there should be a preference for primary anti-VEGF therapy in a compliant patient. PDR in inherited retinal disease appears to be very anti-VEGF responsive and may not require the standard monthly frequency of treatment, even from initiation.

Purpose: The aim of this study was to compare retinal and optic disc functions as well as vascular structures in dominant eyes (DE) and non-dominant eyes (NDE) among healthy adults using pattern electroretinogram (PERG), optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) tests.

Methods: Seventy-two eyes of 36 healthy subjects with bilateral visual acuity of 1.0 were included. Parameters such as intraocular pressure (IOP), cycloplegic spherical equivalent value (SE), PERG, retinal nerve fiber layer (RNFL) thicknesses and OCTA measurements were evaluated. Ocular dominance was determined using the hole-in-the-card test.

Results: Of the participants, 67% were female, with a median age of 28 (min-max.18-35) years. Right eye dominance was observed in 61.2% of cases, while left eye dominance was seen in 38.8%. There was no significant difference in refractive values between eyes with right and left eye dominance (0.60 ± 0.40 and 0.41 ± 0.28, p = 0.42). The dominant eyes showed significantly higher P50 amplitude (10.2 µV vs. 9.2 µV, p = 0.003) and shorter peak time (47.9 ms. vs. 48.6 ms, p = 0.01) when compared to the nondominant eyes. There were comparable values in the peak times and amplitudes of the N95 component between the dominant and nondominant eyes. The RNFL layer was thicker on average (p, 0.001) as well as in the nasal and inferior quadrants of the dominant eyes (p < 0.05). OCTA analysis revealed no significant differences in the peripapillary and macular capillary vascular densities between dominant and nondominant eyes (p > 0.05), except for the deep whole capillary density in the macula, which was significantly higher in the dominant eyes (p = 0.02).

Conclusion: Our results indicate the existence of functional and structural relationships related to ocular dominance. Future studies provide further insights into ocular dominance and its relationship with eye structure.

Purpose: To report a novel hemizygous nonsense variant in the CACNA1F gene associated with congenital stationary night blindness (CSNB) in a pediatric patient, emphasizing the utility of portable electroretinography (ERG) and genetic testing in diagnosing unexplained visual impairments.

Methods: The patient, a 5-year-old male, underwent comprehensive clinical evaluation, including detailed anterior segment and fundus examinations, full-field electroretinogram (ffERG) using a RETeval™ portable device, and whole exome sequencing (WES) to elucidate the genetic basis of his visual impairment. Structural modeling of the mutated protein was performed using SWISS-MODEL and PYMOL.

Results: Best-corrected visual acuity was 0.4 logMAR bilaterally, with unremarkable anterior segment and fundus examinations. FFERG revealed significant abnormalities consistent with incomplete CSNB: severely reduced rod response in dark-adapted (DA) 0.01, negative waveform with b/a wave ratio < 1.0 in DA 3.0, and diminished cone response in light-adapted ERG. WES identified a novel pathogenic variant in the CACNA1F gene (c.1234G > T, p.E412*), inherited maternally. This variant introduces a premature stop codon at position 412, likely resulting in a truncated CACNA1F protein.

Conclusions: This case highlights the importance of comprehensive clinical assessments and genetic testing in pediatric patients with unexplained visual impairments, revealing a novel CACNA1F variant that expands our understanding of CSNB. The use of a portable ERG device proved particularly valuable in assessing retinal function in this young patient. Further investigations are warranted to elucidate the clinical implications of this novel pathogenic variant.

Purpose: Several studies have reported that glaucoma patients have abnormal photopic negative response (PhNR) results compared to reference control subjects. The International Society for Clinical Electrophysiology of Vision (ISCEV) released an extended protocol for PhNR (I-PhNR) in 2018. The purpose of this study was to compare the I-PhNR protocol to a similar protocol modified (M-PhNR) to enhance the performance of the method in detecting glaucomatous damage.

Methods: Thirty subjects were enrolled in this study (12 glaucoma patients, 10 glaucoma suspects, 8 normal controls). PhNR tests were conducted with a Diagnosys E3 mobile system (Diagnosys LLC, Lowell, MA). I-PhNR tests utilized all parameters specified by the ISCEV requirement. M-PhNR tests used the same parameters as the ISCEV tests with the exceptions of a 5-45 Hz bandpass filter and a novel, objective sweep-selection parameter. According to the ISCEV protocol, the PhNR relative to baseline (i.e., BT), a-wave and b-wave response amplitudes and BT/b-wave amplitude ratios were measured. Coefficients of variation, receiver operating characteristic (ROC) curves, and t-tests were used to assess the data from one randomly chosen eye per subject.

Results: The M-PhNR protocol resulted in a decrease in the intra-subject repeat test coefficient of variation and a decrease in the average inter-subject coefficient of variation for the glaucoma subjects. The ROC curves demonstrated an increase in the area under the curve (AUC) for the M-PhNR compared to the I-PhNR protocol. The sensitivity and specificity were also greater for the M-PhNR protocol.

Conclusions: The M-PhNR protocol resulted in a decrease in intra-subject and inter-subject data variability which resulted in a significant increase in the ROC AUC, sensitivity, and specificity for glaucoma. Thus, the M-PhNR protocol shows promise as a better diagnostic tool than the I-PhNR protocol for detecting glaucoma.

Purpose: This case report aims to describe a rare case of asymptomatic retained metallic intraocular foreign body (IOFB) in the retina with reduced full-field electroretinography (ff-ERG) in a Chinese woman.

Methods: This is a clinical investigation of a patient who unexpectedly presented with a metallic IOFB at the superior-temporal region of the left eye ring during a brain computed tomography.

Results: Her best-corrected visual acuity was 20/20 in both eyes. The dilated fundus photograph of the left eye revealed a metallic IOFB in the retina. She reported no ocular symptoms. A diagnosis of asymptomatic metallic IOFB was made definitely. The subsequent ff-ERG demonstrated subnormal amplitudes of dark and light adaption in the left eye, whereas responses were normal in the right eye.

Conclusions: Our findings suggest the application of ff-ERG has important benefits for evaluating the visual function in patients with retained IOFB.

Introduction: Nephronophthisis 12 is a rare condition and only two cases have been reported to associate with retinopathy. Herein we present the third case in scientific literature, and the first with vision-quality exams.

Clinical case: The case was a 28-year-old male with the mutations c.626C > T (p.Pro209Leu) and c.1317T > G (p.Tyr439*). Bilateral atrophy of outer retinal layers and retinal pigmented epithelium were observed, resembling a bull's eye maculopathy. Visual acuity, as well as contrast sensitivity dropped with mesopic conditions. He presented more difficulties in differentiating colors within blue-yellow range, and some degree of halos were detected. Multifocal electroretinogram detected little retinal function, and visual field detected a full scotoma. He referred poorer quality of life due to emotional wellbeing, more than to difficulties in reading or accessing information.

Conclusion: Although rare, nephronophthisis 12 may be caused by genetic mutations that associate severe retinopathy.

Purpose: To simplify the electro-oculography (EOG) method and integrate it into the full-field electroretinogram (ffERG) protocol for screening purposes.

Methods: 20 control subjects and 5 patients with Best vitelliform macular dystrophy (BVMD) underwent EOG recording according to both the standard protocol and screening EOG protocol that was integrated as part of ffERG testing. Mean values of light peak-to-dark trough ratio (LP:DT ratio) were compared between both protocols using the Student's t-test, sensitivity and specificity for the detection of RPE dysfunction were evaluated with ROC analysis and a survey on the difficulty of each protocol was completed by each subject.

Results: With the standard EOG mean LP:DT ratio was 2.67 ± 0.61 in controls and 1.12 ± 0.16 in BVMD patients (p < 0.001). With the screening protocol mean LP:DT ratio was 1.98 ± 0.33 in controls and 1.02 ± 0.14 in BVMD (p < 0.001). A comparison of LP:DT ratios showed significant difference between the standard and the screening protocol (p < 0.01 in controls; p = 0.02 in BVMD), however both protocols showed 100% sensitivity and 100% specificity for detection of BVMD. Patients stated that participation in the screening protocol was easier and less uncomfortable.

Conclusions: Screening EOG performed as part of ffERG gives comparable results to standard EOG, examination is patient-friendly, time saving and can be used as a preliminary test for the assessment of RPE function.

Purpose: Vitamin A is a lipid-soluble compound that is critical in maintaining phototransduction. Ocular manifestations of hypovitaminosis A may present with anterior segment signs of xeropthalmia, with advanced cases also causing classic retinal and electrophysiologic changes of vitamin A deficiency retinopathy. We present a case of vitamin A deficiency retinopathy, with corresponding retinal imaging and electrophysiology, in an adult patient with celiac disease and liver fibrosis.

Methods: A single case report was conducted in Toronto, Canada.

Results: A 77-year-old male with known celiac disease and liver fibrosis presented progressively worsening vision noticed primarily when driving. Vision was 20/50 OD and 20/200 OS. Bitot spots were noted on anterior segment examination. Fundus photography demonstrated bilateral peripheral macular hypopigmentation and far-peripheral granular retinal hypopigmentation with focal yellow dots and hyper-pigmented deposits. Optical coherence tomography (OCT) imaging demonstrated indistinct outer retinal banding with mild outer nuclear layer thinning, focal hyper-reflective deposits, and a thin choroid bilaterally. Full-field electroretinography (ERG) testing demonstrated reduced rod-isolated and combined rod-cone response amplitudes, and multifocal ERG testing demonstrated blunted individual responses throughout the field. The patient was treated with pulse vitamin A therapy. After 6 months of therapy, ERG responses were back within reference range, and the outer retinal changes reversed; visual acuity improved to 20/30 OD and 20/40 OS.

Conclusion: This case represents the classic findings of vitamin A deficiency retinopathy on fundus examination and electrophysiologic testing secondary to gastrointestinal pathology. Prompt treatment of high dose vitamin A supplementation led to improvement of full-field and multifocal ERG results, as well as reconstitution of outer retinal architecture.