Restoration of vision by combined experimental antithymocyte therapy, and orbital radiation with high-dose steroids for severe, acute, steroid-refractory, congestive thyroid orbitopathy.

PURPOSE: We report diagnostic and therapeutic dilemmas in the difficult case of compressive optic neuropathy with severe visual acuity and visual field loss with subsequent visual recovery in both eyes, in a patient with Graves' orbitopathy (GO) by a combination of experimental antithymocyte therapy, orbital radiotherapy with high-dose steroids. METHODS: A 72-year-old man presented with severe vision loss in both eyes. The visual symptoms had appeared over a year before the GO diagnosis. He was initially misdiagnosed with neuroborreliosis and optic neuritis based on brain and orbital magnetic resonance imaging. There was no exophthalmos. The ophthalmological examination included visual acuity, visual field, tonometry in primary and upgaze eye position, optical coherence tomography (OCT), pattern electroretinogram (PERG), pattern, and flash visual evoked potentials (PVEP and FVEP). The patient received experimental therapy with ATG, followed by high-dose of intravenous steroids and orbital radiotherapy. RESULTS: Delayed VEP peaks became shorter after treatment. After systemic and local therapy lowering of intraocular pressure was achieved. Abnormal PERG has been found three months before ganglion cells atrophy was detected in OCT. Visual acuity and visual field improvement occurred in both eyes after therapy, despite partial left optic nerve atrophy. The patient regained full decimal visual acuity (1.0 right from as poor as 0.3  to 1.0 in the right eye and from hand movements to 0.9 in the left. Severe visual field loss with advanced absolute scotomata has improved to slight relative scotomata. The duration of follow-up time after the treatment was 4 months. CONCLUSIONS: Intensive treatment of steroid-resistant Graves' orbitopathy (GO) may prevent total optic nerve atrophy. Despite severely advanced optic neuropathy, this report emphasizes the necessity of therapy even with nearly complete visual function loss hence there is always a possibility to regain full visual acuity and visual field. Patients with tense orbital septum may not present with significant exophthalmos, thus delaying the correct diagnosis of orbitopathy. A supporting sign of GO was the difference in intraocular pressure in the primary and upgaze eye positions. Electrophysiological examinations are helpful in the diagnosis and monitoring of GO therapy. To our knowledge, this is the first report of this kind presenting visual function restoration and structural recovery in a patient with advanced optic neuropathy in GO.

Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report.

Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. They result from mutations in the CACNA1F gene encoding the α1F subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A 57-year-old Caucasian man who had suffered since his early childhood from nystagmus, nyctalopia, low visual acuity and high myopia in both eyes (OU) presented to expand the diagnostic process, because similar symptoms had occurred in his 2-month-old grandson. Additionally, the patient was diagnosed with protanomalous color vision deficiency, diffuse thinning, and moderate hypopigmentation of the retina. Optical coherence tomography of the macula revealed retinoschisis in the right eye and foveal hypoplasia in the left eye. Dark-adapted (DA) 3.0 flash full-field electroretinography (ffERG) amplitudes of a-waves were attenuated, and the amplitudes of b-waves were abolished, which resulted in a negative pattern of the ERG. Moreover, the light-adapted 3.0 and 3.0 flicker ffERG as well as the DA 0.01 ffERG were consistent with severely reduced responses OU. Genetic testing revealed a hemizygous form of a stop-gained mutation (c.4051C>T) in exon 35 of the CACNA1F gene. This pathogenic variant has so far been described in combination with a phenotype corresponding to CSNB2A and CORDX3. This report contributes to expanding the knowledge of the clinical spectrum of CACNA1F-related disease. Wide variability and the overlapping clinical manifestations observed within AIED and its allelic disorders may not be explained solely by the consequences of different mutations on proteins. The lack of distinct genotype-phenotype correlations indicates the presence of additional, not yet identified, disease-modifying factors.

Age-Related Macular or Retinal Degeneration?

Age-related macular degeneration (AMD) is an eye disease that leads to progressive vision loss. Its prevalence has been increasing due to population aging. Previously, it was commonly believed that the disease affects the central retina, that is, the macula. However, recent studies have shown that it also involves the peripheral retina. Novel imaging techniques revealed various degenerative lesions that extend beyond the central macula. While their prevalence remains unknown, they seem to be more frequent in patients with late AMD. These findings suggest that the term "age-related retinal dysfunction" might be more adequate to describe some cases of AMD. They also raise the question about the role of electroretinography (ERG) as an objective measure of retinal function. The most common types of ERG tests used in AMD are multifocal (mfERG) and full-field ERG (ffERG). mfERG is more sensitive to macular changes, but the test is difficult to perform when fixation is unstable. On the other hand, ffERG reflects the function of the entire retina, not only the macular area. It helps assess the impact of peripheral retinal lesions and overall retinal function in patients with AMD. As ffERG results are normal in early-stage AMD, any abnormalities indicate that the disease is more severe and affects the entire retina. Anti-vascular endothelial growth factor injections improve retinal function in patients with neovascular AMD, as demonstrated by an increase in their ERG responses. More research is needed to assess the association between local and general retinal dysfunction. In this review, ffERG findings in patients with AMD are described and the usefulness of ffERG is discussed based on previous studies and cases from our own clinical practice.

Visual evoked potentials as a method for the prospective assessment of tacrolimus neurotoxicity in patients after kidney transplantation.

INTRODUCTION: Neurotoxicity, including optic nerve injury, is one of the most common adverse effects of tacrolimus, the principal calcineurin inhibitor used after kidney transplantation (KTx). The electrophysiologic measurements of both pattern visual evoked potentials (PVEP) and flash visual evoked potentials (FVEP) are valuable when drug-induced optic neuropathy is suspected. OBJECTIVES: To determine whether VEP measurement is a sensitive and repeatable method for monitoring tacrolimus neurotoxicity. MATERIAL AND METHODS: This prospective study focused on 35 patients (20 M, 15F, 69 eyes, mean age 43 ± 11 years) who were at a median of 3.0 (IQR, 2.2-3.7) months after KTx at the time of the initial VEP evaluation and were treated with tacrolimus since KTx. The follow-up VEP examination was done after a median of 24 (22-27) months (both VEP measurements followed the ISCEV standards). The P100 wave latency and amplitude for the 1° and 15' PVEP simulations, and the P2 wave latency and amplitude for the FVEP were analyzed. RESULTS: For the 1° checks, the P100 wave latency and amplitude values were significantly worse in the follow-up examination compared to the early post-transplant time-point. Independent associations between FVEP parameters and the tacrolimus blood trough level were observed in the follow-up examination but not at the early post-transplant period. The P2 wave latency correlated with the tacrolimus trough level only in patients treated with the twice-daily, but not the once-daily, tacrolimus formulation. The brain derived neurotrophic factor (BDNF) level correlated with the P100 (15') latency (R = 0.499; p = 0.005) and the P2 latency (R = 0.409; p = 0.025) only in patients treated with the once-daily, but not the twice-daily, tacrolimus formulation. CONCLUSION: The observations in this study may support the rationale for the use of VEP measurements as non-invasive monitoring of subclinical tacrolimus neurotoxicity.

Ocular Toxoplasmosis Associated with Unilateral Pigmentary Retinopathy That May Mimic Retinitis Pigmentosa: Diagnostic Dilemmas.

We report a unique case of coexisting pigmentary retinopathy and ocular toxoplasmosis in a young male patient. A 23-year-old man presented with sudden visual deterioration in the left eye (LE). The fundus findings revealed bone spicule-shaped pigment deposits, a slightly pale optic disc, arteriole constriction, cystoid macular edema with an epiretinal membrane, and two small inflammatory chorioretinal scars in the right eye, with a concentric narrowing of the visual field and a nonrecordable multifocal electroretinogram (ERG). An active inflammatory lesion at the border of a pre-existing chorioretinal scar in the macula was found in the LE, with a central scotoma in the visual field. Moreover, the patient tested positive for anti-Toxoplasma gondii immunoglobulin G antibodies and showed positive results in polymerase chain reaction testing of aqueous humor. Fluorescein angiography revealed hyperfluorescence in the early phase with fluorescein leakage. A multifocal ERG of the LE showed selective loss of responses from the central 10 degrees. Genetic testing revealed heterozygosity in the RP1 and CELSR1 genes. Our case illustrates challenges in the diagnosis of unilateral pigmentary retinopathy. Based on the typical toxoplasmic lesions in the LE and two scars likely caused by inflammation, our patient was diagnosed with pigmentary retinopathy probably related to toxoplasmosis. Genetic consultation did not confirm the diagnosis of retinitis pigmentosa, but more advanced tests might be needed to definitively exclude it.

Acute Zonal Occult Outer Retinopathy in a Patient Suffering from Epilepsy: Five-Year Follow-Up.

We report an unprecedented case of a young patient with epilepsy coexisting with acute zonal occult outer retinopathy (AZOOR), a rare white dot syndrome of unknown etiology, associated with damage to the large zones of the outer retina. Recently, it has been established that epileptic episodes contribute to an inflammatory response both in the brain and the retina. A 13-year-old male patient with epilepsy was referred by a neurologist for an ophthalmologic consultation due to a sudden deterioration of visual acuity in the left eye. The examination, with a key role of multimodal imaging including color fundus photography, fluorescein angiography, indocyanine green angiography (ICGA), fundus autofluorescence (FAF), swept-source optical coherence tomography (SS-OCT) with visual field assessment, and electroretinography indicated AZOOR as the underlying entity. Findings at the first admission included enlargement of the blind spot in visual field examination along a typical trizonal pattern, which was revealed by FAF, ICGA, and SS-OCT in the left eye. The right eye exhibited no abnormalities. Seminal follow-up revealed no changes in best corrected visual acuity, and multimodal imaging findings remain unaltered. Thus, no medical intervention is required. Our case and recent laboratory findings suggest a causative link between epilepsy and retinal disorders, although this issue requires further research.

A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia.

Clinical phenotypes of familial hypobetalipoproteinemia (FHBL) are related to a number of defective apolipoprotein B (APOB) alleles. Fatty liver disease is a typical manifestation, but serious neurological symptoms can appear. In this study, genetic analysis of the APOB gene and ophthalmological diagnostics were performed for family members with FHBL. Five relatives with FHBL, including a proband who developed neurological disorders, were examined. A sequencing analysis of the whole coding region of the APOB gene, including flanking intronic regions, was performed using the next-generation sequencing (NGS) method. Electrophysiological ophthalmological examinations were also done. In the proband and his affected relatives, NGS identified the presence of the pathogenic, rare heterozygous splicing variant c.3696+1G>T. Two known heterozygous missense variants-c.2188G>A, p.(Val730Ile) and c.8353A>C, p.(Asn2785His)-in the APOB gene were also detected. In all patients, many ophthalmologic abnormalities in electrophysiological tests were also found. The identified splicing variant c.3696+1G>T can be associated with observed autosomal, dominant FHBL with coexisting neurological symptoms, and both identified missense variants could be excluded as the main cause of observed clinical signs, according to mutation databases and the literature. Electroretinography examination is a sensitive method for the detection of early neuropathy and should therefore be recommended for the care of patients with FHBL.

Flash visual evoked potentials (FVEP) in various stimulation conditions.

AIM: To compare flash visual evoked potentials (FVEP) elicited using a Ganzfeld bowl (G), Mini Ganzfeld (MG) and Flash Goggles (GG) with eyes open and closed. PATIENTS AND METHOD: The study group comprised 17 volunteers with mean age of 30 years; all of them were examined with the Roland Consult electrophysiological diagnostic system. Active electrodes were placed at O1 and O2. With the G and MG stimulators, the flash generated by white-light-emitting diodes (LEDs) presented standard flash of 3 cd s m-2. The GG used red LED flash of 3 cd s m-2. Stimulus frequency of 1.0 Hz, low-pass filter of 1.0 Hz and high-pass filters of 100 Hz (G); 50 Hz (MG); 30 Hz (GG) were used. P2 amplitude and latency were compared by the means of the Wilcoxon matched-pairs signed-rank test. RESULTS: After right eye stimulation (from O1; n = 17), the mean amplitudes of P2, elicited with the G, MG and GG, were 13, 7 and 10 µV, respectively. The respective latencies were 129, 114 and 110 ms. Hence, the difference between the results obtained with these stimulators was statistically significant (p < 0.05). The mean P2 amplitudes, acquired by the means of the G, MG and GG, were 13 µV, 7 µV and 10 µV for open eyes, and 11 µV, 8 µV and 8 µV for closed eyes. The respective latencies were 129, 114 and 110 ms for eyes open, and 127, 125 and 121 ms for eyes closed. These results of the MG (latency only) and GG (latency and amplitude) stimulation differed significantly (p < 0.05). CONCLUSION: The amplitudes and latencies of the FVEP P2 elicited with different stimulators are not suitable for comparison. Closing the eye during the examination had a significant effect on the components of FVEP waveform elicited with the Flash Goggle and on the latency of P2 elicited with the MG.

The Effect of a Decrease in Intraocular Pressure on Optic Nerve Function in Patients with Optic Nerve Drusen.

PURPOSE: The aim of the study was to compare optic nerve function in eyes with brinzolamide-reduced intraocular pressure (IOP) and the fellow eyes of patients with optic disk drusen (ODD). METHODS: The study comprised 34 patients with bilateral ODD but no signs of any other ocular disease. The eyes with more advanced optic neuropathy were selected for treatment with an IOP-lowering drug, carbonic anhydrase inhibitor (brinzolamide); the fellow eyes served as the control. Static perimetry, pattern electroretinography (PERG), pattern visual-evoked potentials (PVEP), and retinal nerve fiber layer (RNFL) thickness were analyzed. The observation period was 12 months. RESULTS: The eyes with brinzolamide-reduced IOP exhibited a statistically significant decrease in the mean defect index of static visual field (p = 0.03), an increase in PERG N95 amplitude (from 2.94 to 4.41 µV; p = 0.0047), and RNFL thickness stabilization. A statistically significant decrease in RNFL thickness (from 83.21 to 79.85 µm; p = 0.0017) was found in the control eyes. CONCLUSIONS: A decrease in IOP in eyes with ODD results in improvement of retinal ganglion cell function and delays the progression of optic neuropathy. PERG should be performed in patients with ODD as it is a sensitive test for monitoring optic neuropathy.

Differences in serum oxidative status between glaucomatous and nonglaucomatous cataract patients.

BACKGROUND: Oxidative stress contributes to both intraocular pressure regulation and glaucomatous neuropathy. The systemic redox status (solitary determination) was examined in primary open-angle glaucoma (POAG) patients with cataract and nonglaucomatous cataract patients. Cataract-matched group comparisons appear more precise in the context of oxidative stress evaluation. The aim of this study was to establish if systemic oxidative status in POAG patients was elevated compared with the cataract only subjects. METHODS: The study included patients with primary open angle glaucoma (POAG group, n = 30) and controls (non POAG group, n = 25). Serum concentration of lipofuscine (LPS), malondialdehyde (MDA) and activity of total superoxide dismutase (SOD), and its mitochondrial (Mn-SOD) and cystolic (Cu,Zn-SOD) isoform were measured. Total oxidant state (TOS) and total antioxidant capacity (TAC) in blood were also evaluated. RESULTS: Significant increase of LPS (p = 0.0002) and MDA (p = 0.005) concentration was observed in glaucomatous patients as compared with controls. Total SOD activity was significantly lowered in the glaucoma group (p = 0.003); serum level of Mn-SOD was significantly lower in glaucoma patients (p = 0.048) however, Cu,Zn-SOD was not. Glaucoma patients presented elevated mean TOS (p = 0.016). Both groups presented with comparable TAC. CONCLUSION: Systemic redox balance of cataract patients was significantly altered in the course of glaucoma.

Visual evoked potentials in diagnostics of optic neuropathy associated with renal failure.

Chronic renal failure is associated with many neurological complications. Due to accumulation of uremic neurotoxins axonal degeneration with its secondary demyelination occurs, which results in development of polineuropathy in 60­100% of patients with chronic renal failure. One of the most severe peripheral neuropathy is optic neuropathy. It is associated with visual deterioration and reduction in quality of life. Symptoms of the optic neuropathy may appear either before or after dialysis therapy. They often worsen after renal transplant, probably due to immunosuppressive regimen. Early diagnostics of the optic neuropathy became possible by using visual evoked potentials (VEP). This reliable, sensitive and noninvasive technique provides a direct measure of subclinical impairment of visual pathways. Among hemodialysed or immunosupressed patients one can observe abnormal VEP parameters - especially prolonged latency of the P100 component, less often fluctuation of its amplitude. These alterations are pronounced even if clinical examination reveals no abnormalities. This review presents a summary of current use of visual evoked potentials in monitoring of patients with chronic renal failure.

Diagnostic methods in ocular argyrosis: case report.

PURPOSE: The aim of this report is to present a case of a patient, metal foundry worker, who had been exposed to industrial silver salts for over 20 years. It is well established that chronic exposure to silver compounds can cause accumulation of silver deposits in various tissues. This condition is referred to as argyrosis or argyria, whereas changes related to eye tissues are defined as ocular argyrosis. METHODS: A complete eye examination, corneal confocal microscopy, kinetic and static visual field test, posterior segment optical coherent tomography, pattern visual evoked potentials (PVEP), flash visual evoked potentials, multifocal electroretinogram, pattern electroretinogram (PERG), full-field electroretinography (FERG) and electrooculogram were all performed. RESULTS: Eye examination revealed decreased visual acuity, corneal deposits and drusenoid changes within the macula. Although electrophysiology tests did not show changes in the function of retinal pigment epithelium, they revealed abnormal function of photoreceptors in the central and peripheral retina. PERG abnormalities and delayed latency of P100 wave in PVEP confirmed impaired function of the inner layers of the retina in the macular region. CONCLUSIONS: Corneal confocal microscopy and electrophysiological tests may help confirm the diagnosis of ocular argyrosis.

Determination of Serum Ceruloplasmin Concentration in Patients with Primary Open Angle Glaucoma with Cataract and Patients with Cataract Only: A Pilot Study.

BACKGROUND The aim of this article was to describe the role of ceruloplasmin and to report preliminary results of ceruloplasmin concentrations in patients with primary open-angle glaucoma (POAG) with cataract and in patients with only cataract. Glaucoma, a neurodegenerative disease, is a heterogeneous group of conditions characterized by loss of retinal ganglion cells (RGC), their axons, progressive optic nerve damage, and visual field deterioration. MATERIAL AND METHODS The POAG group included 30 patients and the cataract group included 25 patients. RESULTS Ceruloplasmin plays an essential role in iron metabolism and inactivating free radicals. In the presented pilot study, serum ceruloplasmin level was lower in the POAG group in comparison to the group with only cataract. CONCLUSIONS In treating persistent inflammation in the course of glaucoma, antiglaucoma drugs may increase the permeability of the blood-ocular barrier, which may be connected with the lower concentration of serum ceruloplasmin in the glaucoma patients group.

Visual-evoked potentials in patients with brain circulatory problems.

PURPOSE: The aim of this study was to find out if local brain circulatory problems may influence visual-evoked potentials (VEP). PATIENTS AND METHODS: Thirty-eight patients were divided into the following groups: (I) those with hemianopsia or quadrantanopsia and hemiparesis after brain stroke; (II) those with hemianopsia or quadrantanopsia without paresis after brain stroke; and (III) those with amaurosis fugax. The control group consisted of 38 patients. The VEP pattern (PVEP) and flash VEP (FVEP) were examined monocularly using two electrodes placed at O1 and O2. Latency and amplitude of the N75, P100 and N2, P2 waves were measured. The Newman-Keuls test was used for statistical analysis. RESULTS: In PVEP, no differences between the groups were observed. In FVEP, the mean P2 latency was significantly longer in group I than in group III, and the P2 amplitude was significantly lower in all examined groups when compared with the control group. PVEP and FVEP revealed differences in P latency over 3 ms between brain hemispheres and differences in P amplitude over 30% in all examined groups. In the control group, there were no differences in latency between brain hemispheres and only a small difference in amplitude. CONCLUSION: Local brain circulatory problems that may lead to brain ischemia cause differences in VEP amplitude and latency between brain hemispheres. Changes in VEPs observed in patients with amaurosis fugax may be considered the result of recurrent brain ischemia.

Different Impacts of Luminosity on Contrast Vision in Eyes with Transparent Optic Media and with Cataract Simulation.

OBJECTIVE: To evaluate the effect of luminous intensity on contrast vision under different ocular conditions. MATERIALS AND METHODS: Ninety eyes of 45 persons were included in this study as follows: 30 healthy eyes, 30 eyes with cataract simulation (using translucent glasses), and 30 myopic eyes. Contrast sensitivity was examined using 5 spatial frequencies (1.5, 3.0, 6.0, 12.0, and 18.0 cycles per degree) of sine wave contrast test optotypes for 4 light intensities (34, 68, 154, and 240 cd/m2). RESULTS: The mean linear contrast sensitivities averaged over the frequencies for each of the 4 light intensities were: healthy eyes: 59 ± 11, 72 ± 16, 79 ± 23, and 80 ± 19; myopic eyes: 52 ± 13, 67 ± 15, 73 ± 21, and 75 ± 18, and cataract simulation eyes: 15 ± 7, 21 ± 8.6, 28.7 ± 13, and 28.6 ± 13, respectively. The linear contrast sensitivities averaged over the light intensities for each of the 5 spatial frequencies were: healthy eyes: 78, 87, 117, 59, and 21; myopic eyes: 65, 84, 109, 54, and 29, and cataract simulation eyes: 37, 41, 28, 8, and 2. CONCLUSIONS: The light intensity level had a positive effect on the contrast sensitivity of the examined eyes, except for eyes with cataract simulation, where even the maximum light intensity did not improve the contrast vision. This indicates that patients with cataracts require increased contrast of text rather than brighter illumination to improve the quality of their vision.

Combined central retinal vein and cilioretinal artery occlusion in a 25-year-old woman.

We report a case of a 25-year-old woman with sudden and painless diminution in vision and central scotoma in her left eye (LE). She was a smoker and had been taking combined oral contraceptive (COC) pills for 1 year. On admission, the best-corrected visual acuity (BCVA) was 1,5/50 in the LE. Posterior segment examination revealed optic disc edema with flame-shaped retinal hemorrhages, mildly tortuous and dilated retinal veins. Moreover, retinal edema in the peripapillary and perimacular region, foci of hemorrhages and Roth's spots in the posterior pole, as well as pale superior papillomacular bundle were observed. Fundus fluorescein angiography (FFA) confirmed the delayed flow of contrast through the cilioretinal artery in the LE. The clinical picture suggested left central retinal vein (CRVO) with cilioretinal artery occlusion (CLRAO). All laboratory and imaging tests were normal except for homozygous methylenetetrahydrofolate reductase (MTHFR) gene mutation (A1298C genotypes). However, serum homocysteine (Hcy) level was normal. Low molecular weight heparin (LMWH) treatment was administered. Retinal lesions, as well as BCVA improved, but central scotoma remained. Abbreviations: aPTT = activated partial thromboplastin time, BCVA = best-corrected visual acuity, CBC = complete blood count, CLRAO = cilioretinal artery occlusion, COC = combined oral contraceptive, CRA = central retinal artery, CRP = serum C-reactive protein, CRVO = central retinal vein occlusion, CT = computed tomography, CTA = computed tomography angiography, ECG = electrocardiography, ESR = erythrocyte sedimentation rate, FERG = flash electroretinogram, FFA = fundus fluorescein angiography, GCA = ganglion cell analysis, GCL = ganglion cell layer, Hcy = homocysteine, ICGA = indocyanine green angiography, INR = international normalized ratio, IOP = intraocular pressure, IPL = inner plexiform layer, LE = left eye, LMWH = low molecular weight heparin, mfERG = multifocal electroretinogram, MTHFR = methylenetetrahydrofolate reductase, OCT = optical coherence tomography, RE = right eye, VF = visual field.

Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family.

Leber hereditary optic neuropathy (LHON) is a rare disease with a prevalence of 1 in 25,000 births. LHON usually presents in young males, with painless loss of visual acuity in one or both eyes. Recently an autosomal recessive form of the disease (arLHON or LHONAR) has been described, which is caused by a biallelic mutation in the DNAJC30 gene (usually a missense mutation c.152A>G). The phenotypic and clinical characteristics of patients with arLHON are similar to those of mtLHON, but some differences have been described. Therapy is problematic and challenging. This paper describes clinical and electrophysiological findings in one family (three children and two parents) with arLHON and emphasizes the role of Photopic Negative Response Electroretinography, which provides objective measurement of retinal ganglion cells function. In Leber hereditary optic neuropathy, abnormal retinal ganglion cells function can be found in both eyes, even if visual acuity loss only occurs in one eye. Early clinical diagnosis, confirmed by genetic analysis, may be the key to sight-preserving treatment.

Ocular features in Aicardi syndrome: A case report.

RATIONALE: Aicardi syndrome is a genetic malformation syndrome with a triad of dysgenesis or agenesis of the corpus callosum, distinctive chorioretinal lacunae and infantile spasms. It is a rare developmental disorder first described in 1965. The disease affects 1 in 100,000 live births. PATIENT CONCERNS: We describe a 34-month-old girl diagnosed with Aicardi Syndrome. DIAGNOSIS: Based on the results of color images of the fundus, medical history as well as the analysis of karyotype and DNA microarrays, the patient was diagnosed with Aicardi's syndrome. INTERVENTIONS: Additionally an B-scan ultrasonography and an electrophysiological test was performed. OUTCOME: Fundoscopic examination revealed optic disc colobomas in both eyes, extensive chorioretinal lacunae at the posterior pole with retinal pigment epithelium regrouping and atrophy. Flash visual evoked potentials (FVEP) P2 amplitude was lower than normal range. B-scan ultrasonography revealed an optic disc lesion consistent with optic disk coloboma. LESSONS: Children with congenital central nervous system malformations should undergo regular ophthalmic checkups to facilitate diagnosis and determine prognosis of visual function development.

Retrospective analysis of pattern VEP results in different ocular and systemic diseases.

PURPOSE: Significantly increased latency of VEP assessment in various ocular and systemic disorders and discussion of VEP interpretation problems in patients with sudden loss of visual acuity. MATERIAL AND METHODS: A retrospective analysis of pattern VEP in 352 patients with suspected retrobulbar optic neuritis and 892 patients with significantly increased (more than three standard deviations) P100 latency was performed. Transient pattern VEP (PVEP) was recorded in accordance with ISCEV standards with the use of two active electrodes in the occipital region (from left and right sides). RESULTS: The most frequent cause of increased P100 latency was multiple sclerosis. Other conditions associated with delay P100 latency included: macular dystrophies and degenerations, optic neuritis, glaucoma and other optic neuropathies, circulatory problems, chorioretinitis, arterial hypertension, diabetes, ischemic heart disease, chronic renal failure, acute pancreatitis, pediatric problems, and initial cataract. Sudden loss of visual acuity was caused by: retrobulbar optic neuritis (50%), anterior ischemic optic neuropathy, spasm of accommodation, migraine and functional disorders. CONCLUSIONS: If VEP results are normal, visual acuity loss is usually functional. A detailed knowledge of all the factors, which may influence VEP is essential for its correct interpretation.

The Effect of Maintenance Treatment with Twice-Daily or Prolonged Once-Daily Tacrolimus Formulation on Visual Evoked Potentials in Stable Kidney Transplant Recipients.

In kidney transplant recipients (KTRs), uraemia-induced central nervous system damage partly subsides, while the long-lasting exposure to tacrolimus may cause pathologic visual evoked potentials (VEP) findings, which have not been investigated yet. Thus, the aim of the present study was to assess the effect of tacrolimus maintenance treatment on bioelectrical function of optic nerves in stable KTRs. Sixty-five stable KTRs were enrolled, including 30 patients treated with twice-daily (Prograf) and 35 patients treated with prolonged once-daily (Advagraf) tacrolimus formulation. In all patients, pattern and flash VEP measurements were performed. Tacrolimus dosing and exposure were also analyzed. Overall, 129 eyes were analyzed. In pattern VEP, both (1°) and (15') latencies of P100 waves were significantly longer, whereas (1°) and (15') amplitudes were lower in the Advagraf group as compared with the Prograf group. Multivariate regression analyses revealed that the use of Advagraf (vs. Prograf) was independently associated with longer (1°) and (15') P100 latencies and lower corresponding amplitudes, whereas log tacrolimus daily dose was only related to amplitudes in a whole study group. In flash VEP, log tacrolimus trough level was associated with negative changes in P2 wave amplitude irrespective of tacrolimus formulation, whereas its association with P2 latency was observed only in the Prograf group. Both the type of tacrolimus formulation and drug exposure influenced the VEP parameters in stable KTRs.