Documenta Ophthalmologica最新文献

Purpose: It is established that the mfERG is altered in type 2 diabetes (T2DM). The P1 implicit time (IT) becomes delayed even before retinopathy is present. This has been associated with the duration of damage to retinal cells from hyperglycemia. However, patients withT2DM and prediabetes also have changes in insulin values. The impact of elevated or reduced blood insulin on retinal function using mfERG has not been explored. Here we evaluate the the relationship between blood insulin levels and mfERG parameters in patients with and without T2DM and prediabetes.

Methods: 66 subjects (age 50.4 ± 10.5) were included in this cross-sectional study. Subjects were asked if fasted upon presentation. HbA1c was taken and used to categorize subjects into groups as controls (< 5.7%), prediabetes (5.7-6.4%) or T2DM (> 6.4% or previously diagnosed). Insulin was collected from finger stick and was analyzed via ELISA. A mfERG (103 hexagons) was performed (VERIS 6.3) with 4-min m-sequence at near 100% contrast. Data was evaluated for ring hexagons, as well as averaged together for P1 IT. No subjects had retinopathy or were taking exogenous insulin. Data were evaluated through ANOVA for comparisons of groups and as well as with multivariate regression analysis.

Results: There was a strong positive correlation between fasting blood glucose and mfERG IT (P < 0.002) in all subjects. There was also a negative relationship between averaged mfERG IT and fasted blood insulin concentration (P = 0.035) after age, T2DM duration and blood glucose were controlled for in a multivariate regression. There was a significant difference in mfERG IT between the groups (p = 0.008) with T2DM exhibiting the longest IT, but no difference between controls and prediabetes. There was no difference in insulin levels between groups, nor were there any significant relationships between insulin and mfERG IT for those who were not fasted.

Conclusions: Reduced blood insulin is associated with IT delays under overnight fasted conditions, which suggests a lack of insulin may impair retinal function. Future work should examine these associations of retinal function with insulin under well controlled and standardized postprandial conditions such as during oral glucose tolerance testing.

Purpose: To establish age-adjusted reference intervals for the ISCEV standard full-field electroretinogram (ERG) recorded with silver thread electrodes in the lower fornix, based on a combined reference sample involving recordings from reference subjects and transference of data between two centres and two types of electrode.

Methods: Silver thread lower fornix ERG reference data from two centres underwent verification for inclusion in the reference sample (n = 251). Comparison analysis was performed to determine whether gold foil reference data could be included in the silver thread reference range, directly or with adjustment. Reference subjects and patients underwent ERG testing with both silver thread and gold foil electrodes (n = 53) and skin electrodes (n = 41). A linear model, fitted to the electrode comparison data, was used to transform gold foil ERG reference data for inclusion in the reference sample (n = 156). The combined sample of 407 reference individuals was used to derive age-adjusted reference limits for the main DA 0.01, DA 3, DA 10, LA 30 Hz and LA 3 ERG components.

Results: Silver thread ERG reference data was sufficiently similar across two centres to justify combination into a single reference sample. Peak times for gold foil and silver thread ERGs were closely comparable (r² 0.75-0.98, Bland-Altman bias ≤ 1.6 ms for all ERG components), with LA 30 Hz peak time showing the highest agreement (bias: - 0.2 ms, 95% limits of agreement (LOA): - 1.1 to 0.7 ms, 'silver thread-gold foil'). There was a clinically significant amplitude difference between electrode types: silver thread ERGs were 55-65% of the amplitude of gold foil ERGs (LOA ranged from 29 to 90%) and skin ERGs were 35-38% of the amplitude of silver thread ERGs (LOA ranged from 18 to 54%). Pooled reference data formed a sufficient sample covering 8 decades, from which age-adjusted parametric and nonparametric reference limits were calculated with reference to current guidelines.

Conclusions: ISCEV standard silver thread ERG data were consistent across the two centres, allowing transference of reference data. Reference data recorded with gold foil electrodes can be transformed for inclusion in a silver thread ERG reference range. The study highlights methods of pooling multiple sources of reference data into a larger, more robust sample, pertinent to standardization, clinical management, and multi-centre studies. These reference data could be adopted by other centres or combined with other datasets, following suitable verification.

Purpose: B-scan ultrasound is widely utilized for diagnosing posterior segment ocular disorders due to its non-invasive nature and ability to provide real-time imaging. This meta-analysis evaluates the diagnostic accuracy of B-scan ultrasound in detecting various posterior segment ocular disorders.

Methods: A comprehensive search was conducted across multiple databases including Medline, EMBASE, Cochrane Library, and SCOPUS, from their inception until May 2024. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) tool was employed to assess the risk of bias in the included studies. A bivariate meta-analysis was performed to calculate pooled estimates of sensitivity, specificity, and other diagnostic performance measures. Statistical analyses were conducted using STATA 14.2, which included generating summary receiver operating characteristic curves and diagnostic odds ratios.

Results: Ten studies met the inclusion criteria, encompassing a total of 1,617 reference-tested units. The pooled sensitivity and specificity of B-scan ultrasound for diagnosing posterior segment ocular disorders were remarkably high at 96% (95% CI 91-98%) and 94% (95% CI 87-98%), respectively. The diagnostic odds ratio was 363 (95% CI 94-1406), indicating substantial diagnostic accuracy. The area under the curve (AUC) was 0.99, confirming the excellent capability of B-scan ultrasound. Notable heterogeneity was observed (I² = 86%), and no significant publication bias was detected.

Conclusion: B-scan ultrasound demonstrates high sensitivity and specificity in diagnosing posterior segment ocular disorders, confirming its utility as a reliable diagnostic tool in clinical practice.

Purpose: RPE65-associated retinopathy is a rare form of inherited retinal dystrophy. This case report aimed to describe a patient with biallelic RPE65 variants who demonstrated a milder phenotype compared to previous cases.

Case presentation: A 9-year-old male patient was referred to The Jikei University Hospital for clinical and genetic assessments. The patient underwent ophthalmic examinations, including full-field electroretinography (ERG) in the left eye (LE) and in right eye (RE) after 30 min and 24 h of dark adaptation, respectively, and genetic testing using whole exome sequencing analysis. The genetic analysis revealed a known variant [(c.1543C > T, p.Arg515Trp)] and a novel variant [c.462G > T, (p.Lys154Asn)] in the compound heterozygous state in the RPE65 gene. Fundus photograph showed a normal appearance at the posterior pole and multiple white dots in the midperipheral retina. Fundus autofluorescence imaging showed diffusely decreased autofluorescence. Optical coherence tomography showed a normal appearance, including the outer retinal layers. Dark-adapted (DA) ERGs. (DA 0.01, DA 3.0, and DA 10.0) were reduced in amplitude in both eyes (BE), whereas a slight recovery of amplitude was observed in the RE. The b/a-wave ratios of DA 3.0 and 10.0 were 1.31 and 1.30 in the RE, and 1.16 and 1.25 in the LE. Light-adapted ERGs (LA 3.0 and LA 30-Hz flicker) were also reduced in amplitude in BE.

Conclusions: Our findings suggest that RPE65-associated retinopathy should be considered in the differential diagnosis, even in patients with preserved retinal structure and function.

Purpose: To report 2 cases with unilateral Best vitelliform macular dystrophy (VMD) and describe their multimodal investigations findings.

Methods: Two patients in their fifties who were misdiagnosed as central serous chorioretinopathy were carefully evaluated using multimodal imaging and electrooculography (EOG) investigations.

Results: Both patients showed neurosensory elevation at the macula in one eye only leading to reduced vision. The optical coherence tomography showed subretinal hyperreflective material lining the undersurface of the elevated retina with thinning of the overlying photoreceptor layer. There was no choroidal thickening or pachy vessels. There was no leakage seen on fluorescein angiography nor any choroidal hyperpermeability on indocyanine green angiography. There was no choroidal neovascular membrane noted. The left eye was clinically unaffected for both. The EOG showed a reduced light peak to dark trough (LP:DT) ratio in both the eyes of these patients confirming the diagnosis of Best VMD. No change was seen in the eye condition over 2 years.

Conclusions: Best VMD can present in unilateral fashion in rare instances. EOG can be confirmatory along with genetic testing. It can be misdiagnosed as CSCR where multimodal imaging and EOG can help differentiate it as Best VMD.

Importance: Central retinal artery occlusion (CRAO) is typically associated with older patients with cardiovascular risk factors. However, its occurrence in younger patients without these risk factors suggests the need to explore rare genetic conditions. Identifying genetic disorders like adenosine deaminase 2 deficiency (DADA2), a vasculitic disease, can be critical in such cases to prevent further complications.

Objective: To report the challenging diagnosis of two cases of CRAO in brothers under the age of 40, leading to the diagnosis of DADA2, a rare genetic vasculitic disorder.

Results: A 34-year-old man and his 32-year-old brother, both without significant medical histories, presented with CRAO eight years apart. Extensive diagnostic evaluations, including blood tests, imaging, and autoimmunity panels, failed to identify common causes. Progressive neurological symptoms in the older brother and the similar presentation in his sibling led to further investigation, including genetic testing. A homozygous mutation c.752C > T p.(Pro251Leu) in the CECR1 gene confirmed the diagnosis of DADA2 in both brothers.

Conclusion: These cases underscore the importance of considering genetic disorders like DADA2 in young patients presenting with unexplained vascular occlusions. DADA2, characterized by vasculitis, immune dysregulation, and hematologic disorders, can manifest variably, complicating early diagnosis. Effective treatment with TNF inhibitors can prevent further vision loss and mitigate systemic complications. To our knowledge, these are the first reported cases of DADA2 with CRAO as the initial manifestation without prior clinical findings.

Aim: To describe methods of evaluating multichannel full and half field pattern VEPs using the ISCEV VEP Standard montage.

Methods: The dependence of full field and half field pattern VEPs on retinal areas and cortical generators is reviewed and applied to the interpretation and evaluation of multichannel half field pattern VEPs.

Results: There are predictable differences in the trans-occipital distributions of components of monocular full, and half field, pattern-reversal and full field, onset-offset VEPs. In combination, the differing distribution and dependence of these components on foveal and macular fields can help to identify and localise chiasmal and retro-chiasmal dysfunction and distinguish this from trans-occipital distribution due to individual variations of cortical architecture. A decision tree synthesising published evidence and current practice is suggested to guide interpretation of trans-occipital VEP distributions.

Conclusion: The routine application of two additional lateral channels to acquire multichannel VEPs is quick, easy and adds clinical diagnostic value. The combination of full and half field pattern-reversal and fullfield, onset-offset VEPs can help evaluate chiasmal and retro-chiasmal visual pathway function, and minimise false positive interpretation of asymmetric VEP distributions, which may be due to cortical architecture or cranial anatomy alone.

Purpose: To explore changes in the electroretinogram (ERG) following methylphenidate use in attention-deficit/hyperactivity disorder (ADHD).

Methods: Light adapted ERGs were recorded in five individuals (3 male and 2 female, age range 13.6-21.8 years) with a diagnosis of ADHD. Six flash strengths ranging from 71 to 446 Td.s were qualitatively evaluated following a minimum of 24 h without any medication and from 2 to 6 h following the individuals' standard slow-release (XL) methylphenidate dose that ranged from 18 to 60 mg.

Results: Of the six flash strengths, the 178 Td.s strength revealed changes in four of the five participants with a median 27.4% increase in b-wave amplitude. For three individuals there was an increase in the a-wave amplitude and for two of the same individuals there was also a noticeable pronouncement of the oscillatory potentials. The a-wave amplitude showed a greatest median increase at the 446 Td.s flash strength of 25.8%. One individual - on the highest dose (60 mg) exhibited no morphologically distinct changes in the ERG. No differences in the time to peaks of the a- and b-wave were observed for any individual.

Conclusion: The a- and b-wave amplitudes of the light adapted ERG could provide insights into the effect of methylphenidate in ADHD.