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Aims: To investigate the changes in quality-of-life (QoL) metrics at a 24-month interval in non-acute VKHD patients and their association with inflammation, treatment, and visual function., Methods: SF-36 and VFQ-25 questionnaires were administered at two 24-month-apart moments to 22 non-acute VKHD patients followed for ≥12 months since acute disease onset. "Improvement," "unchanged," or "worsening" in questionnaires scores (difference >5-point) between M1 and M2 and their associations were sought., Results: Absence of systemic treatment or optic disc hyperfluorescence was associated with improved general health (SF-36). Improvement in binocular contrast sensitivity resulted in better ocular pain score; absence of anterior uveitis relapse, stable fundus findings, no use of cyclosporine or no intravitreal injections resulted in unchanged/better dependency score; no intravitreal injections resulted in unchanged/better mental health score (VFQ-25)., Conclusion: Stability/improvement in QoL scores was associated with controlled inflammation, better visual function, and no need for treatment. Subclinical inflammatory signs did not impact QoL scores.

Purpose: To describe a case of retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome., Methods: Fundus photography, total field electroretinogram, ultrasound, computerized visual field examination, biochemical examination and genetic testing were obtained., Results: The fundus exam showed diffuse arteriolar attenuation, optic disc with regular contours, and pigment agglomerates like "bone spicules" in the middle periphery. Ultrasound examination revealed scleral thickening and short axial diameter in both eyes. The total field electroretinogram exam showed a subnormal result with greater impairment of the scotopic phase of the exam. Computerized visual field examination demonstrated a diffuse reduction in retinal sensitivity in the periphery. Biochemical examination showed increased urine glycosaminoglycan excretion and iduronate-2-sulphatase activity (IDS) deficiency in leukocytes, confirming the type II mucopolysaccharidosis. Molecular analysis revealed a novel missense mutation (p.A77D) in the IDS gene., Conclusion: The case report is about a patient presented an attenuated form of the syndrome, with no cognitive impairment. Ophthalmologic follow-up is still an important part of multidisciplinary treatment for Hunter's syndrome., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Ischaemic optic neuropathy is the most common, feared, and recognised ocular manifestation of giant cell arteritis (GCA), while extraocular muscle palsy rarely occurs in the disease. Overlooking the diagnosis of GCA in aged patients with acquired diplopia and strabismus is not only sight- but also life-threatening. Here, we present, for the first time, a case of unilateral abducens nerve palsy and contralateral anterior ischaemic optic neuropathy as the presenting signs of GCA in a 98-year-old woman. Prompt diagnosis and treatment prevented further visual loss and systemic complications and allowed for rapid resolution of the abducens nerve palsy. We also aim to discuss the possible pathophysiological mechanisms of diplopia in GCA and to emphasise that acquired cranial nerve palsy must raise suspicion of this severe disease in elderly patients, particularly in association with ischaemic optic neuropathy., Competing Interests: No potential conflict of interest was reported by the authors., (© 2022 Taylor & Francis Group, LLC.)

Introduction: Parkinson's disease (PD)-associated inner retinal abnormalities, particularly the retinal ganglion cells (RGC) layer, on optical coherence tomography (OCT) have recently gained importance as a biomarker of non-motor involvement of the disease but functional RGC evaluation using photopic negative response (PhNR) has not yet been determined. This study aims to compare structural and functional findings of the retina and optic nerve in PD with healthy controls (CT) including PhNR and OCT., Methods: Forty-one eyes of 21 PD patients and 38 eyes of 19 CT underwent ophthalmic examination including visual contrast sensitivity test (CS), OCT, light-adapted full-field electroretinography (ffERG), and PhNR. OCT was used to measure the peripapillary retinal nerve fiber layer, the segmented macular layers, and the choroid. For functional parameters, CS, ffERG (oscillatory potentials, photopic response, 30 Hz-flicker), and PhNR waves were used. Measurements were compared using generalized estimating equation and significance was set at P ≤ 0.05., Results: The PD group presented a significantly lower mono- and binocular CS, oscillatory potentials amplitude, b-wave amplitude on ffERG (152.3[45.4] vs 187.1[32.7]μV; P = 0.002), and PhNR amplitude (135.0[35.0] vs 156.3[34.1]μV; P = 0.025). There was no statistically significant difference in OCT measurements between groups. No correlation was found between statistically significant measurements and clinical data., Conclusions: Functional abnormalities on CS, ffERG, and PhNR can be detected in PD even when structural damages are not observed on OCT. PhNR represents a new potential biomarker in PD. Our findings indicate dysfunction of bipolar, amacrine, and retinal ganglion cells in PD, probably with a cellular dysfunction overcoming morphological damage., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Purpose: To compare the visual evoked potentials (VEPs) of optic neuritis (ON) patients with multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and controls. To evaluate correlations between VEP and optical coherence tomography (OCT), contrast sensitivity (CS), and automated perimetry., Methods: Fifty-five eyes with ON from 29 patients (MS = 14 and NMOSD = 15) and 57 eyes from 29 controls were evaluated using VEP, automated perimetry, CS, and optical coherence tomography. Three groups were analyzed: 1) MS eyes with history of ON (ON-MS), 2) NMOSD eyes with ON (ON-NMOSD), and 3) healthy controls. Groups were compared and associations between the parameters were tested., Results: Compared to controls, ON-MS eyes showed significantly delayed N75 and P100 latencies when using a medium-sized stimulus (30'), and delayed P100 latency when using a large stimulus (1.5°), but similar amplitudes. Compared to controls, ON-NMOSD eyes showed significantly lower N75/P100 amplitudes (both stimulus sizes) and P100/N135 amplitudes (with the 30' stimulus), but latencies did not differ, except for a delayed P100 latency with the 30' stimulus. When comparing the 2 ON groups using the 1.5° stimulus, there was significant delay in P100 latency in ON-MS eyes and a reduction in N75/P100 amplitude in ON-NMOSD eyes. Peripapillary retinal nerve fiber layer, macular inner retinal layers, and CS measurements were significantly smaller in ON patients than in controls. A strong correlation was found between VEP parameters and inner retinal layer thickness in ON-NMOSD eyes., Conclusions: ON-MS eyes had normal amplitude and delayed VEP latency, whereas ON-NMOSD eyes displayed reduced amplitude and preserved latency when elicited by checkerboard stimulus with large 1.5° checks. Under such conditions, VEP may help distinguish resolved MS-related ON from resolved NMOSD-related ON., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 by North American Neuro-Ophthalmology Society.)

Background: The tomographic finding, which has been called the "fingerprint sign" in en face reconstructions, seems to be the result of a variety of processes that cause distension of the outer plexiform layer (OPL) and the Henle fiber layer (HFL). The aim of this paper is to describe the appearance of concentric rings at the OPL/HFL interface visualized using en face reconstructions of cross-sectional optical coherence tomography images of patients with Vogt-Koyanagi-Harada disease., Methods: Retrospective analysis of images of six eyes of three patients obtained by cross-sectional OCT imaging and en face reconstruction at the level of the OPL/HFL interface., Results: All eyes presented with a dentate or saw-tooth pattern of the OPL/HFL interface on cross-sectional OCT with corresponding concentric rings on en face OCT reconstruction, consistent with the recently published "fingerprint sign". Initial OPL/HFL interface changes were observed between the first and fourth months after treatment and resolution of VKHD associated serous retinal detachments. These OPL/HFL interface changes have persisted for many years following the resolution of the active inflammation., Conclusions: Changes in the OPL/HFL interface can be identified following successful treatment of VKHD. These included both a dentate or saw-tooth pattern on cross-sectional imaging and concentric rings or the "fingerprint sign" on en face reconstructions. These changes persisted for many years despite disease quiescence., (© 2022. The Author(s).)

Purpose: To evaluate associations between functional and structural measurements in patients with non-acute VKHD., Methods: In this cross-sectional study, 16 non-acute VKHD patients (32 eyes; 14 female) were evaluated with multifocal electroretinogram (mfERG), standardized automated perimetry (SAP) and optical coherence tomography (OCT)examinations. All included patients had a minimum 12 months of follow-up from acute onset and were participants of an ongoing prospective study since acute phase with systematic clinical imaging evaluations and electroretinogram examinations within a predefined treatment. Age- and gender-matched controls were included. Main outcomes were functional and structural abnormalities and their correlation; secondary outcome was correlation of these findings with clinical characteristics, including fundus abnormalities., Results: SAP and mfERG parameters were significantly worse in patients than in controls. Fourteen eyes (43.7%) had disrupted ellipsoid zone (EZ); visual acuity (VA) was similar between eyes with intact or disrupted EZ. Eyes with intact and disrupted EZ differed significantly concerning N1 and P1 amplitudes and N1 peak time values on mfERG and mean sensitivity (MS), central sensitivity (CS), foveal threshold, visual field index, mean deviation (MD) and pattern standard deviation values on SAP. The area under the curve on receiver operating curves for P1 amplitude was 0.81 (cut-off value = 34.7 nV/deg 2 ) and for MD value was 0.84 (cut-off value = -5.2 dB). Central retinal thickness (CRT) significantly correlated with N1 and P1 amplitudes and P1 peak time values on mfERG (r = 0.354, r = 0.442 and r = -0.405, respectively) and MD, MS, CS and fovea threshold (log values) on SAP (r = 0.372, r = 0.406, r = 0.431 and r = 0.414, respectively). Statistically significant associations were found with the presence of peripapillary atrophy and recurrent anterior uveitis with a worse MD value (p = 0.004 and p < 0.001, respectively)., Conclusion: In non-acute VKHD, disrupted EZ and reduced CRT were correlated with impaired mfERG and SAP parameters, even in patients with good VA., (© 2020 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Aims : To evaluate associations between vision-related (VR-) and health-related (HR-) QoL metrics and inflammation and treatment in non-acute VKHD patients. Methods : Cross-sectional study in a tertiary center in Sao Paulo, Brazil with 22 patients with non-acute VKHD followed prospectively for ≥12 months since acute disease onset, with systematic evaluation and predefined treatment protocols. VR- and HR-QoL aspects were assessed by VFQ-25 and SF-36 questionnaires, respectively. Associations between the questionnaire's subscale item scores with inflammation and systemic medical therapies were assessed. Results : After generalized linear model analysis, worse VA, severe fundus changes, fluctuation of VA and fluctuation of anterior chamber cells impacted negatively on VR-QoL items. Higher cumulative total dose of corticosteroids and use of immunosuppressive therapy impacted negatively on both questionnaires. Conclusion : Worse VA, clinical inflammation and systemic treatment have a significant impact on VR- and HR-QoL questionnaires. Subclinical choroidal inflammation did not seem to impact QoL.

Purpose : To assess health-related (HR-) and vision-related (VR-) quality of life (QoL) in patients with long-standing Vogt-Koyanagi-Harada disease (VKHD). Methods : Cross-sectional study of 49 patients with disease duration ≥12 months followed at Uveitis Service, Universidade de São Paulo, BR, for at least 12 months. HR- and VR-QoL were evaluated using SF-36 and NEI VFQ-25 questionnaires, respectively. Demographic, clinical and visual function data were compared with questionnaire scores. Results : After generalized linear models, lower mensal household income was associated with lower scores in both questionnaires while unemployment was associated with SF-36 questionnaire only. Treatment with peri-/intraocular medications and ocular surgery were associated with higher scores on SF-36 questionnaire. Worse visual acuity (VA), ocular complications and no ocular surgery were related to lower scores on NEI VFQ-25 questionnaire. Conclusions : On HR- and VR-QoL questionnaires difficulties perceived by patients with long-standing VKHD were mainly associated with socio-economic aspects, VA, local treatment and ocular complications.

Purpose: To prospectively evaluate the dynamic changes of the full-field electroretinogram (ff-ERG) and its association with inflammatory signs in patients with Vogt-Koyanagi-Harada disease (VKHD) followed up after acute onset., Methods: Twelve acute VKHD patients, who were followed up for at least 24 months, were enrolled at a tertiary center from June 2011 to January 2017. Treatment consisted of intravenous methylprednisolone followed by 1 mg/kg/day of oral prednisone with a slow tapering associated with late non-steroidal immunosuppressive therapy in previously defined cases. Inflammation was systematically evaluated with clinical and posterior segment imaging (PSI) exams (fluorescein angiography, FA, indocyanine green angiography, ICGA, enhanced depth imaging optical coherence tomography, EDI-OCT). A ff-ERG was performed upon enrollment as well as at predefined intervals. Scotopic ff-ERG parameters changes between the 12th and 24th months defined the ERG-stable or ERG-worsening groups. "Flare" was defined as an appearance or worsening of inflammatory signs (after the initial 6 months following disease onset) under the predefined treatment protocol., Results: ff-ERG parameters initially improved in all eyes; in the evaluation between the 12th and 24th months, ff-ERG results were stable in 17 eyes (71 %) and worsened in 7 eyes (29 %). Subnormal ff-ERG results were observed in 15 eyes (62 %) at the 24th month. On the other hand, the flare was observed in 8 eyes (33 %) as cells in the anterior chamber and in 24 eyes (100 %) as any PSI inflammatory sign. The ERG-worsening group presented thicker subfoveal choroid at the first month (p = 0.001) and fluctuations in choroidal thickness more often during follow-up when compared to the ERG-stable group (p = 0.02)., Conclusions: Scotopic ff-ERG parameters worsened between the 12th and 24th months in a quarter of the patients. Subclinical inflammation detected as an increase in CT seems to be related to worsening in visual function measured with ffERG.

Purpose: To evaluate the intermediate and outer retina of patients with multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) using OCT and multifocal electroretinography (mf-ERG). Methods: Patients with MS ( n = 30), NMOSD ( n = 30), and healthy controls ( n = 29) underwent visual field (VF), OCT, and mf-ERG testing. The eyes were distributed into 5 groups: MS with or without history of ON (MS+ON, MS-ON), NMOSD with or without ON (NMOSD+ON, NMOSD-ON), and controls. The thickness of the macular retinal nerve fiber layer (mRNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer, outer plexiform layer, outer nuclear layer, and photoreceptor layer was measured. mf-ERG P1 and N1 responses were registered and grouped in 3 sets of rings. The groups were compared using GEE models, and effect size (ES) calculated. Results: Compared to controls, GCL and IPL thickness was significantly smaller in MS+ON (both p < 0.01), MS-ON ( p < 0.01 and p = 0.015, respectively), NMOSD+ON (both p < 0.01) and NMOSD-ON ( p = 0.03 and p = 0.018, respectively). ES was >0.80. mRNFL was smaller in three of the above groups ( p < 0.01, p < 0.001, and p = 0.028; ES > 0.80) but not in MS-ON eyes ( p = 0.18). No significant difference was observed for the remaining layers. Compared to controls, P1 and N1 peak times were shorter in MS ( p -values in the range 0.049-0.002, ES < 0.50; and 0.049-0.010; ES < 0.50, respectively) but not in NMOSD. These abnormalities were strongly correlated with intermediate and outer retinal layer thickness. Conclusions: mf-ERG data suggest outer retinal abnormalities in MS, but not in NMOSD. Our results may help understand how the two conditions differ regarding retinal damage.

Background: Although previous studies have evaluated the effect of anti-VEGF therapies for central retinal vein occlusion (CRVO) patients, the majority of previous studies have excluded or included a very small number of patients with ischemic CRVO (iCRVO). The aim of our study is to examine the effects of bevacizumab on macular edema secondary to ischemic central retinal vein occlusion, as well as the effects on central choroidal thickness and best-corrected visual acuity., Methods: In this prospective, interventional case series, iCRVO was defined by the presence of ≥ 10 or more disc diameter areas of retinal nonperfusion by fluorescein angiography (FA) and by the presence of a b/a ratio less than 1.5 by full-field electroretinogram (ffERG). Nine eyes with iCRVO received monthly bevacizumab 0.5 mg injections at baseline and months 1 to 5 for a maximum of six injections. Main outcome measures were visual acuity (Snellen), central foveal thickness, and central choroidal thickness as measured by Spectral-Domain Optical Coherence Tomography (SD-OCT) at baseline and at 6 month following initial intravitreal bevacizumab injection. Pairwise t-tests and the Wilcoxon signed-rank test were conducted to compare the outcome measures., Results: After intravitreal administration of bevacizumab, there was a significant reduction of central foveal thickness from 858 ± 311 μm at baseline to 243 ± 106 μm at the 6-month follow-up, as well as a significant reduction of central choroidal thickness from 282 ± 38 μm at baseline to 227 ± 56 μm at the 6-month follow-up (p = 0.0006, p = 0.0003 respectively). The visual acuity worsened from a median of 1.3 to 1.7 (p = 0.02)., Conclusion: In patients with iCRVO, intravitreal bevacizumab led to a reduction of central macular edema and central choroidal thickness, but a worsening of visual acuity. Intravitreal bevacizumab reduces macular edema but is not able to overcome the poor prognosis of iCRVO., Competing Interests: Competing interestsThe authors declare that they have no competing interests.

Purpose: To evaluate the ability of macular and multifocal (mf) pattern electroretinogram (PERG) to differentiate preperimetric glaucoma (PG) and glaucoma with hemifield loss (GHL) from controls, to compare the discrimination ability of PERG and fourier-domain optical coherence tomography (FD-OCT), and to assess the relationship between measurements., Patients and Methods: Standard automated perimetry, steady-state and transient PERG and mfPERG measurements were obtained from PG (n=14, 24 eyes), GHL (n=5, 7 eyes), and controls (n=19, 22 eyes). Circumpapillary retinal nerve fiber layer (cpRNFL), full-thickness macula, and segmented macular layer thicknesses on FD-OCT were investigated. Measurements were compared using mixed effects linear models. The relationships between measurements and the diagnostic performance of each technology were assessed., Results: Compared with controls, average P50 peak time transient PERG responses were reduced in PG and GHL, whereas average latency and amplitude steady-state and mfPERG responses were abnormal only in GHL. cpRNFL and macular thickness measurements in PG and GHL differed significantly from controls. A significant relationship was found between PERG and most FD-OCT or SAP parameters. Partial least squares discriminant analysis revealed that OCT parameters, along with mfPERG and transient PERG parameters had similar ability to discriminate PG and GHL from healthy controls., Conclusions: PERG and OCT parameters may be abnormal, with significant correlations between measurements, in PG eyes. Both technologies may be useful for detection of early glaucoma.

Introduction: We report a case of retinal and posterior ocular findings in a 33-year-old man diagnosed with Hunter syndrome (Mucopolysaccharidosis type II) in a multimodal imaging way., Case Presentation: Our patient was complaining of blurred night vision for the past 3 years. He had not received any systemic treatment for Hunter syndrome. Vision acuity was 20/20 in both eyes and corneas were clear. Fundus examination revealed bilateral crowded and hyperemic optic nerve heads (elevated in the ocular ultrasound) and areas of subretinal hypopigmentation. There was hyperautofluorescence at the central fovea and perifovea, and a diffuse bilateral choroidal fluorescence in angiography. Macular SD-OCT showed a thinning of the external retina at the perifovea in both eyes. Visual field testing showed a bilateral ring scotoma. The full field ERG was subnormal, with a negative response in the scotopic phase. Visual Evoked Potencial test and cranial MRI were normal., Conclusion: Our multimodal analysis reported here attempted to contribute to the knowledge of the natural history of GAG deposition in the eye, focusing on the retina and retinal pigment epithelium. Defining this natural history is essential for a proper comparison with Hunter patients receiving systemic treatment, thus determining if it can or cannot improve retinal function in humans with this disorder.

Purpose: The aims of this study are to compare optical coherence tomography (OCT)-measured macular retinal layers in eyes with permanent temporal hemianopia from chiasmal compression and control eyes; to compare regular and slow-flash multifocal electroretinography (mfERG) in patients and controls; and to assess the correlation between OCT, mfERG, and central visual field (SAP) data., Methods: Forty-three eyes of 30 patients with permanent temporal hemianopia due to pituitary tumors who were previously submitted to chiasm decompression and 37 healthy eyes of 19 controls were submitted to macular spectral domain OCT, mfERG, and 10-2 SAP testing. After segmentation, the thickness of the macular retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer, and photoreceptor layer (PRL) was measured. Amplitudes and oscillatory potentials (OPs) were measured on regular and slow-flash mfERG, respectively, and expressed as the mean values per quadrant and hemifield., Results: RNFL, GCL, and IPL thickness measurements were significantly reduced in all quadrants, whereas INL, OPL, and PRL thicknesses were significantly increased in the nasal quadrants in patients compared to those in controls. Significant correlations between OCT and 10-2 SAP measurements were positive for the RNFL, GCL, and IPL and negative for the INL, OPL, and PRL. OPs and mfERG N1 amplitudes were significantly reduced in the nasal hemiretina of patients. Significant correlations were found between OP and mfERG amplitudes for inner and outer nasal hemiretina OCT measurements, respectively., Conclusion: Patients with permanent temporal hemianopia from previously treated chiasmal compression demonstrated significant thinning of the RNFL, GCL, IPL, and thickening of the INL, OPL, and PRL associated with reduced OP and mfERG N1 amplitudes, suggesting that axonal injury to the inner retina leads to secondary damage to the outer retina in this condition.

Purpose: To verify whether multifocal visual evoked potential (mfVEP) can differentiate eyes with temporal hemianopia due to chiasmal compression from healthy controls. To assess the relationship between mfVEP, standard automated perimetry (SAP), and Fourier domain-optical coherence tomography (FD-OCT) macular and peripapillary retinal nerve fiber layer (RNFL) thickness measurements., Methods: Twenty-seven eyes with permanent temporal visual field (VF) defects from chiasmal compression on SAP and 43 eyes of healthy controls were submitted to mfVEP and FD-OCT scanning. Multifocal visual evoked potential was elicited using a stimulus pattern of 60 sectors and the responses were averaged for the four quadrants and two hemifields. Optical coherence tomography macular measurements were averaged in quadrants and halves, while peripapillary RNFL thickness was averaged in four sectors around the disc. Visual field loss was estimated in four quadrants and each half of the 24-2 strategy test points. Multifocal visual evoked potential measurements in the two groups were compared using generalized estimated equations, and the correlations between mfVEP, VF, and OCT findings were quantified., Results: Multifocal visual evoked potential-measured temporal P1 and N2 amplitudes were significantly smaller in patients than in controls. No significant difference in amplitude was observed for nasal parameters. A significant correlation was found between mfVEP amplitudes and temporal VF loss, and between mfVEP amplitudes and the corresponding OCT-measured macular and RNFL thickness parameters., Conclusions: Multifocal visual evoked potential amplitude parameters were able to differentiate eyes with temporal hemianopia from controls and were significantly correlated with VF and OCT findings, suggesting mfVEP is a useful tool for the detection of visual abnormalities in patients with chiasmal compression.

Celiac disease is an autoimmune disorder that affects the small intestine of genetically predisposed individuals. Ophthalmic manifestations are within the extra-intestinal manifestations, and can be divided into those of autoimmune disorders or those due to absorptive disabilities. This article reviewed the ophthalmologic manifestation of celiac disease. Ophthalmic symptoms are rare, but should be investigated in patients with celiac disease and taken into consideration as the first systemic manifestation.

Purpose: We evaluated the ability of transient pattern electroretinogram (PERG) parameters to differentiate between eyes with visual field (VF) loss and resolved papilledema from pseudotumor cerebri syndrome (PTC) and controls, to compare PERG and optical coherence tomography (OCT) with regard to discrimination ability, and to assess the correlation between PERG, frequency domain OCT (FD-OCT), and VF measurements., Methods: The VFs and full-field stimulation PERGs based on 48 and 14-min checks were obtained from patients with PTC (n = 24, 38 eyes) and controls (n = 26, 34 eyes). In addition, FD-OCT peripapillary retinal nerve fiber layer (RNFL) and segmented macular layer measurements were obtained and correlation coefficients were determined., Results: Compared to controls, PERG N95 and P50+N95 amplitude measurements with 48-minute checks were significantly reduced in eyes with resolved papilledema from PTC. Both PERG N95 amplitude and OCT parameters were able to discriminate papilledema eyes from controls with a similar performance. Significant correlations, ranging from 0.25 (P < 0.05) to 0.43 (P < 0.01) were found between PERG amplitude values and OCT-measured macular ganglion cell layer thickness, RNFL thickness, and total retinal thickness. The PERG amplitude also was significantly associated with VF sensitivity loss with correlation coefficients ranging from 0.24 (P < 0.05) and 0.35 (P < 0.01)., Conclusions: The PERG measurements were able to detect neural loss in PTC eyes with resolved papilledema and were reasonably well correlated with OCT measurements and VF parameters. Thus, PERG may be a useful tool in the monitoring of retinal neural loss in eyes with active papilledema from PTC.

Pattern electroretinography is used to assess the function of the inner retinal layers, particularly the retinal ganglion cell layer, using a reversing checkerboard or grating pattern that maintains a constant overall mean luminance over time. A normal transient response comprises a positive component of the wave (P50) followed by a longer negative component of the wave (N95). Glaucomatous optic neuropathy causes progressive loss of retinal ganglion cells, potentially detectable as abnormalities on examination, particularly in the N95 component. Therefore, pattern electroretinography may be useful in the diagnosis and evaluation of glaucoma. The present article is an updated review of published data regarding the use of pattern electroretinography for the detection of glaucoma-induced retinal changes.

Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy. Whole-exome sequencing of four individuals affected by this disorder from two Brazilian families identified two previously unreported homozygous mutations in PCYT1A. This gene encodes the alpha isoform of the phosphate cytidylyltransferase 1 choline enzyme, which is responsible for converting phosphocholine into cytidine diphosphate-choline, a key intermediate step in the phosphatidylcholine biosynthesis pathway. A different enzymatic defect in this pathway has been previously associated with a muscular dystrophy with mitochondrial structural abnormalities that does not have cartilage and/or bone or retinal involvement. Thus, the deregulation of the phosphatidylcholine pathway may play a role in multiple genetic diseases in humans, and further studies are necessary to uncover its precise pathogenic mechanisms and the entirety of its phenotypic spectrum., (Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Purpose: To evaluate the ability of transient pattern electroretinogram (PERG) parameters to differentiate between eyes of patients with neuromyelitis optica (NMO), longitudinally extensive transverse myelitis (LETM), multiple sclerosis with optic neuritis (MS + ON), multiple sclerosis without optic neuritis (MS - ON), and controls, to compare PERG and OCT with regard to discrimination ability, and to assess the correlation between PERG, FD-OCT, and visual field measurements (VFs)., Methods: Visual field measurements and full-field stimulation PERGs based on both 48- and 14-min checks were obtained from patients with MS (n = 28), NMO (n = 20), LETM (n = 18), and controls (n = 26). In addition, FD-OCT peripapillary retinal nerve fiber layer (RNFL) and segmented macular layer measurements were obtained and their correlation coefficients were determined., Results: Compared to controls, PERG amplitude measurements were significantly reduced in eyes with NMO and MS + ON, but not in eyes with LETM and MS - ON. PERG amplitudes were significantly smaller in NMO and MS + ON eyes than in MS - ON eyes. PERG and OCT performance was similar except in NMO eyes where macular thickness parameters were more efficient at detecting abnormalities. A significant correlation was found between N95 amplitude values and OCT-measured macular ganglion cell layer thickness, total retinal thickness, and temporal peripapillary RNFL thickness. PERG amplitude was also significantly associated with VF sensitivity loss. No statistically significant difference was observed with regard to the best-performing parameters of the two methods., Conclusions: Pattern electroretinogram measurements were able to detect RNFL loss in MS + ON and NMO eyes, with a performance comparable to OCT. PERG amplitude measurements were reasonably well correlated with OCT-measured parameters.

Purpose: To evaluate the correlation between multifocal pattern electroretinography (mfPERG) and Fourier-domain optical coherence tomography (FD-OCT) with regard to macular and retinal nerve fiber layer (RNFL) thickness in eyes with temporal hemianopia from chiasmal compression., Methods: Twenty-five eyes from 25 patients with permanent temporal visual field defects from chiasmal compression and 25 healthy eyes were submitted to mfPERG using a stimulus pattern of 19 rectangles, standard automated perimetry and FD-OCT measurements. The mfPERG response was determined for groups of three rectangles for the nasal and temporal hemifields and for each quadrant. Macular thickness measurements were registered according to an overlaid OCT-generated checkerboard with 36 checks and averaged for the central area, and for each scanned quadrant and hemifield. RNFL thickness was determined for all twelve 30-degree segments around the disc, and averaged for the segments corresponding to the 6, 7, 8, 9, 10, 11 and 12 o'clock position. Correlations were verified with Pearson's correlation coefficients and linear regression analysis., Results: Both mfPERG amplitudes and OCT measurements were significantly smaller in eyes with temporal visual field defects than in normals. A significant and strong correlation was found between most mfPERG and macular or RNFL thickness OCT parameters., Conclusions: mfPERG amplitudes and OCT measurements are significantly correlated in patients with chiasmal compression. Both technologies can quantify neuronal loss and, if used in combination, may help clarify structure-function relationships in this patient population.

Aims: To evaluate the ability of multifocal transient pattern electroretinography (mfPERG) to detect neural loss and assess the relationship between mfPERG and visual-field (VF) loss in eyes with chiasmal compression., Methods: 23 eyes from 23 patients with temporal VF defects and band atrophy of the optic nerve and 21 controls underwent standard automated perimetry and mfPERG using a stimulus pattern of 19 rectangles, each consisting of 12 squares. The response was determined for the central rectangle, for the nasal and temporal hemifields (eight rectangles each) and for each quadrant (three rectangles) in both patients and controls. Comparisons were made using variance analysis. Correlations between VF and mfPERG measurements were verified by linear regression analysis., Results: Mean ± SD mfPERG amplitudes from the temporal hemifield (0.50 ± 0.17 and 0.62 ± 0.32) and temporal quadrants (superior 0.42 ± 0.21 and 0.52 ± 0.35, inferior 0.51 ± 0.23 and 0.74 ± 0.40) were significantly lower in eyes with band atrophy than in controls (0.78 ± 0.24, 0.89 ± 0.28, 0.73 ± 0.26, 0.96 ± 0.36, 0.79 ± 0.26 and 0.91 ± 0.31, respectively). No significant difference was observed in nasal hemifield measurements. Significant correlations (0.36-0.73) were found between VF relative sensitivity and mfPERG amplitude in different VF sectors., Conclusions: mfPERG amplitude measurements clearly differentiate eyes with temporal VF defect from controls. The good correlation between mfPERG amplitudes and the severity of VF defect suggests that mfPERG may be used as an indicator of ganglion cell dysfunction.

The pattern electroretinogram is an electrophysiological test that assesses the function of inner retinal layers, particularly the ganglion cells layer of retina, using a reversing checkerboard or grating pattern that produces no change in average luminance over time. The normal pattern electroretinogram is composed of a proeminent positive component (P50) and a large later negative component (N95). Since structural damage that compromises the retinal ganglion cell layer can lead to pattern electroretinogram changes, particularly in the N95 amplitude, the test can be useful in the treatment of a number of anterior visual pathway diseases. In this article, we review the methods for recording pattern electroretinogram and its usefulness in the diagnosis and management of diseases including inflammatory, hereditary, ischemic and compressive lesions of the anterior visual pathway.

Purpose: To propose an analytic framework for ocular fundus alterations in late-stage Vogt-Koyanagi-Harada (VKH) disease, to describe the characteristics of overall retinal function as measured with full-field electroretinography (ERG), and to correlate the intensity of the fundus changes with full-field ERG alterations and to stratify patients accordingly., Design: Cross-sectional case series., Methods: Forty-seven eyes of 26 patients with late-stage VKH disease (> 6 months past disease onset) followed-up at the University of São Paulo School of Medicine underwent fundus photography within 2 months of a full-field ERG examination, both according to predefined protocols. Fundus pictures were evaluated by two observers regarding diffuse fundus depigmentation, nummular lesions, pigment clumps, and subretinal fibrosis, and an overall analysis classified the fundus changes as mild, moderate, or severe. Full-field ERG results were analyzed according to fundus-based stratification and also were stratified into 3 groups solely on the basis of decreasing amplitudes (ERG based or cluster stratification). The concordance between fundus-based and full-field ERG-based stratification strategies was estimated., Results: Overall fundus grading showed substantial interobserver concordance (kappa = 0.78). Comparison of full-field ERG parameters of the three fundus-based stratified groups showed diffusely diminished amplitudes with preservation of implicit times (P < .05). Fundus-based and full-field ERG-based stratification strategies also showed substantial concordance (kappa = 0.68)., Conclusions: The analytic framework for fundus findings proposed in this study seems reproducible and useful, because the severity categories do correlate with retinal function as measured by full-field ERG. This system may allow more precise exchange of information between practitioners as well as researchers with regard to identifying patients with greater retinal compromise rapidly as well as in comparison of outcomes of different treatment regimens.

Purpose: To evaluate the relationship between pattern electroretinogram (PERG) amplitude, macular and retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (OCT), and visual field (VF) loss on standard automated perimetry (SAP) in eyes with temporal hemianopia from chiasmal compression., Methods: Forty-one eyes from 41 patients with permanent temporal VF defects from chiasmal compression and 41 healthy subjects underwent transient full-field and hemifield (temporal or nasal) stimulation PERG, SAP and time domain-OCT macular and RNFL thickness measurements. Comparisons were made using Student's t-test. Deviation from normal VF sensitivity for the central 18 degrees of VF was expressed in 1/Lambert units. Correlations between measurements were verified by linear regression analysis., Results: PERG and OCT measurements were significantly lower in eyes with temporal hemianopia than in normal eyes. A significant correlation was found between VF sensitivity loss and full-field or nasal, but not temporal, hemifield PERG amplitude. Likewise a significant correlation was found between VF sensitivity loss and most OCT parameters. No significant correlation was observed between OCT and PERG parameters, except for nasal hemifield amplitude. A significant correlation was observed between several macular and RNFL thickness parameters., Conclusions: In patients with chiasmal compression, PERG amplitude and OCT thickness measurements were significant related to VF loss, but not to each other. OCT and PERG quantify neuronal loss differently, but both technologies are useful in understanding structure-function relationship in patients with chiasmal compression. (ClinicalTrials.gov number, NCT00553761).

Purpose: To evaluate different diagnostic methods for high risk chloroquine retinopathy due to prolonged use of chloroquine (more than 5 years) by systemic lupus erythematosus patients., Methods: Seventy-two eyes of 36 consecutive patients, followed in the Division of Rheumatology, School of Medicine, University of São Paulo, were analyzed from July 2007 to April 2008. Demographic and clinical data were evaluated in order to study risk factors and to compare the following different ophthalmological methods: visual acuity, biomicroscopy, fundus examination, retinography, fluorescein angiogram, visual field test and, color vision tests., Results: From 36 patients, 34 (94.4%) were female. The mean age was 39.9 +/- 9.8 years and the disease duration was 13.9 +/- 6.6 years. Besides chronic use of chloroquine, patients also showed high daily and cumulative doses. These high risk factors were not related to a higher retinopathy prevalence. Visual field showed 38.9% of retinopathy prevalence. Other ophthalmological methods failed in detecting most cases., Conclusion: High prevalence of retinopathy in high risk patients was observed by visual field test, but other ophthalmological methods failed in detecting alterations. Ophthalmological assessment of these patients should include visual field, even in the absence of clinical alterations.

Purpose: To evaluate the ability of full-field and hemifield pattern electroretinogram (PERG) parameters to differentiate between healthy eyes and eyes with band atrophy (BA) of the optic nerve., Methods: Twenty-six eyes from 26 consecutive patients with permanent temporal hemianopic visual field defects and BA of the optic nerve from previous chiasmal compression and 26 healthy subjects were studied prospectively. All patients were submitted to an ophthalmic examination including Humphrey 24-2 SITA Standard automated perimetry. Full-field and hemifield (nasal and temporal) stimulation transient pattern electroretinograms (PERG) were recorded using checkerboard screens. Amplitudes and peak times for the P50 and N95 as well as the overall P50+N95 amplitude were measured. The intraocular N95:P50 amplitude ratio was calculated. Comparisons were made using Student's t-test. Receiver operating characteristic (ROC) curves were used to describe the ability of PERG parameters to discriminate the groups., Results: Full-field P50, N95, and P50+N95 amplitude values were significantly smaller in eyes with BA than in control eyes (P < 0.001). Nasal and temporal hemifield PERG studies revealed significant differences in N95 and P50+N95 amplitudes measurements. No significant difference was observed regarding peak times or N95:P50 amplitude ratios. Nasal and temporal hemifield PERG values did not differ significantly in eyes with BA or in controls. Using the 10th percentile of normals as the lower limit of normal, 16 of 26 eyes were considered abnormal according to the best discriminating parameters., Conclusions: Transient PERG amplitude measurements were efficient at differentiating eyes with BA and permanent visual field defects from normal controls. Hemifield stimulation PERG parameters were unable to detect asymmetric hemifield neural loss, but further studies are required to clarify this issue.

Purpose: To evaluate the behavior of the scotopic Oscillatory Potentials (OP) of total field electroretinogram (ERG) in hypertensive retinopathy., Methods: Forty-four patients (n=44) were submitted to clinical evaluation and subdivided in to 2 groups: hypertensives (HT) and normotensives (NT). The hypertensives patients were maintained under placebo during the period of the study. Soon afterwards, they were submitted to ophthalmological evaluation and accomplishment of ERG. Total field electroretinogram (ERG), with recording of the answers: scotopic, maximum scotopic, OP scotopic, photopic and flicker.For analysis of the OP answer the latency of the first 2 peaks and the average value of the width of the first 3 peaks of the compound of 3 consecutive answers, denominated Oscillatory Index (OI) were considered., Results: The sample was composed of 44 patients, with a mean age of 51.55 +/- 7.2 range (34 to 68) years, 24 being females. Arterial hypertension affected 26 (59.1%) of the patients, while 18 (40.9%) were normotensives. The average of the obtained IO was 257.41 microv in the NT group and of 217.81 microv in HT (p=0.006). The averages of latencies obtained for peaks 1 (NT-18.42 and HT-17.91) and 2 (NT-24.54 and HT - 24.29) were not different between the groups (p>0.05)., Conclusions: The hypertensive patients presented significantly smaller oscillatory index than the normotensives, suggesting that arterial hypertension might cause dysfunction of the internal retina.

Purpose: To describe the main intervening factors observed during the acquisition and analysis of multifocal electroretinogram (mfERG), that could affect the recorded signal, the obtained responses and their analysis., Methods: The error factors observed during the acquisition of 100 sequential multifocal electroretinogram tests, in the period of May to July, 2005 were analyzed. The examinations of multifocal electroretinogram were carried out in agreement with international guideline recommendations, taking into account the established parameters of equipment, with 61 elements, and visual angle of 30 degrees. All patients had been submitted to complete ophthalmologic examination, excluding those with inadequate transparency of ways, flat corneas and those incapable to visualize a central fixation target., Results: The intervening factors, that could cause artifacts and errors in the interpretation of the obtained results, observed and corrected during the acquisition of multifocal electroretinogram were: eccentric or poor fixation, eye movements, orbicular contraction, cervical muscle contraction, inadequate transparency of the corneal electrode, electrode displacement, lens support decentralization, inadequate viewing distance in patients with high refractive errors, eye height inadequacy in relation to the center of the screen, electrical noise in 60 HZ frequency and electromagnetic field and high impedances. Excessive use of filters in wave processing for noise and artifact removal can interfere with the analysis of the obtained results., Conclusion: Simple observational cares during signal acquisition are of significant importance to ensure accuracy of the topographical electroretinogram information, good waveform morphology and low noise level register. Through their ready correction, the correct and adjusted analysis of the amplitude and of implicit time of peaks N1, P1 and N2 is reliable. Digital smooth system with specific frequency peak removal supply waves with more defined morphology with lower amplitude reduction than other available resources.

Objective: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis., Description: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis., Comments: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.