Abnormal Electro-oculogram Research Articles

Intravitreal bevacizumab treatment for exudative choroidal neovascularisation in best vitelliform macular dystrophy.

To describe results of intravitreal bevacizumab treatment of the secondary choroidal neovascularisation in Best vitelliform macular dystrophy in an adult and paediatric patient, and present the management of three asymptomatic patients with confirmed BEST1 gene mutation. Five patients from the same family with the Best vitelliform macular dystrophy are presented. In two patients (aged 63 and 4 years) secondary choroidal neovascularisation caused a rapid decline in visual acuity. In the adult patient with advanced Best vitelliform macular dystrophy, visual acuity did not improve despite eight intravitreal bevacizumab injections to the right eye. The formation of a central scar and rapid reoccurrence of choroidal neovascularisation three months after completing the initial treatment affected the outcome. As for the paediatric patient with bilateral choroidal neovascularisation in the vitelliform stage of Best vitelliform macular dystrophy, a complete recovery of visual acuity was observed after two (left eye) and three (right eye) bevacizumab injections, with adjunctive amblyopia treatment. The other three patients with an abnormal electrooculogram reported no visual problems during more than 10 years of follow-up. Minimal changes were seen on optical coherence tomography in the youngest patient. Intravitreal bevacizumab seems to be an effective treatment for exudative choroidal neovascularisation in the vitelliform stage of Best vitelliform macular dystrophy; however, it may not be beneficial in the advanced stages of Best vitelliform macular dystrophy. It is important to regularly screen all family members with an abnormal electrooculogram and confirmed mutation for vitelliform changes and choroidal neovascularisation from an early age. The decision for anti-vascular endothelial growth factor treatment should be made on a case-to-case basis as complications may arise.

Best Disease With Old-age Onset Misdiagnosed as Chronic Central Serous Chorioretinopathy: A Case Report

Purpose: To report a case of Best’s disease with old-age-onset with unusual clinical features. Case summary: A 68-year-old woman with a six-month history of using oral steroids complained of decreased vision in both eyes. Fundus examination revealed a circular area of macular elevation measuring approximately 1.5 disc diameter size in both eyes. Optical coherence tomography (OCT) showed serous retinal detachment, but pigment epithelial detachment was seen only on fluorescein angiography and indocyanine green angiography. The patient received a diagnosis of chronic central chorioretinopathy with choroidal neovascularization. Photodynamic therapy (PDT) and intravitreal bevacizumab (IVB) injections were prescribed as treatment, but were ineffective. For a definitive diagnosis, we performed an electro-oculogram (EOG) and the result was abnormal with an Arden ratio below 1.5 in both eyes. A final diagnosis of Best’s disease was established. Spectral domain OCT findings at the last visit showed a clearly visible RPE split and a low reflective space between the split RPE layers, as well as a high reflectivity corresponding to the subretinal material. Conclusions: We report a case of Best’s disease with old-age onset with unusual clinical features and abnormal EOG findings. Spectral domain OCT was helpful in evaluating the disease. Treatment with PDT and IVB was not effective.

VMD2 Promoter Requires Two Proximal E-box Sites for Its Activity in Vivo and Is Regulated by the MITF-TFE Family

The retinal pigment epithelium (RPE) is crucial for the function and survival of retinal photoreceptors. VMD2 encodes bestrophin, an oligomeric chloride channel that is preferentially expressed in the RPE and, when mutated, causes Best macular dystrophy. Previously, we defined the VMD2 upstream region from -253 to +38 bp as being sufficient to direct RPE-specific expression in the eye, and we suggested microphthalmia-associated transcription factor (MITF) as a possible positive regulator. Here we show that in transgenic mice the -154 to +38 bp region is sufficient for RPE expression, and mutation of two E-boxes, 1 and 2, within this region leads to loss of promoter activity. A yeast one-hybrid screen using bait containing E-box 1 identified clones encoding MITF, TFE3, and TFEB, and chromatin immunoprecipitation with antibodies against these proteins enriched the VMD2 proximal promoter. Analysis using in vivo electroporation with constructs containing mutation of each E-box indicated that expression in native RPE requires both E-boxes, yet in vitro DNA binding studies suggested that MITF binds well to E-box 1 but only minimally to E-box 2. MITF knockdown by small interfering RNA (siRNA) in cell culture revealed a strong correlation between MITF and VMD2 mRNA levels. Sequential transfection of a luciferase construct with expression vectors following MITF siRNA revealed that TFE3 and TFEB can also transactivate the VMD2 promoter. Taken together, we suggest that VMD2 is regulated by the MITF-TFE family through two E-boxes, with E-box 1 required for a direct interaction of MITF-TFE factors and E-box 2 for binding of the as yet unidentified factor(s).

Phenotype and genotype correlations in two best families

Objective To evaluate mutations in the Best mascular dystrophy ( VMD2) gene in two families with Best disease and to describe the phenotype–genotype correlations of genetically determined affected and unaffected individuals. Design Family genetic study. Participants Two families with Best disease were identified, and family members were evaluated by ophthalmologic examination or fundus photography to assess their phenotype. All affected patients and some of the unaffected family members had a blood sample drawn, and the DNA was analyzed for mutations in the VMD2 gene. Main outcome measures Twenty-one subjects in the two pedigrees with Best disease were studied. One amino acid-changing mutation in the VMD2 gene was found to segregate independently in each family (P297S or E300D, respectively). Results Eleven individuals had some evidence of maculopathy, including retinal pigment epithelial changes, drusen, pigment epithelial irregularities, or cicatricial changes. Ten of these 11 patients (91%) with maculopathy had a mutation in the VMD2 gene, of whom 8 were clinically diagnosed as having Best disease and 2 were diagnosed as having possible Best maculopathy. The one patient without a mutation in the VMD2 gene had age-related macular degeneration (AMD). Ten family members did not have evidence of maculopathy, of whom 6 had no mutation in the VMD2 gene. Four family members (2 in each pedigree) had mutations in the VMD2 gene, abnormal electro-oculogram (EOG) results, but normal maculae at age 40 or older. Of the 7 individuals with no mutation in the VMD2 gene, 6 were phenotypically normal and the other had late-onset visual loss resulting from AMD. Conclusions All family members with maculopathy consistent with Best disease (n = 10) had an amino acid-changing mutation in the VMD2 gene. Four individuals who did not have maculopathy, but did have an abnormal EOG, also had mutations in the VMD2 gene. The presence of a VMD2 mutation is associated with abnormal retinal function, which can occur in the absence of phenotypic manifestation of macular disease.

Abnormal electroretinogram and abnormal electrooculogram after lightning-induced ocular injury

PURPOSE: To report a case of abnormal electrooculogram and abnormal electroretinogram after lightning-induced ocular injury. DESIGN: Interventional case report. METHODS: A 39-year-old man was struck on the left forehead by a bolt of lightning. After resuscitation, he regained consciousness. RESULTS: Ophthalmic examination disclosed a best-corrected visual acuity of right eye (RE): 20/25 and left eye (LE): 20/50, burned eyelashes, punctate keratitis, iridocyclitis, anterior subcapsular lens opacity, missing foveolar reflex, and macular pigment epithelial defect LE. Fluorescein angiography revealed only an area of punctate leaking in the left eye. Electrooculogram showed reduced amplitudes, in the left eye. Arden ratio was RE: 2.04 and LE: 1.52. The amplitudes of scotopic and photopic electroretinogram b-waves were reduced in the left eye. After uneventful cataract surgery in the left eye, the follow-up electrooculogram and electroretinogram still showed reduced amplitude in the left eye. CONCLUSION: Lightning is an uncommon cause of ocular injury. This is the first report of abnormal electro-oculogram and abnormal electroretinogram after lightning-induced ocular injury.

Vitamin A status in relation to electroretinographic and electrooculographic findings in HIV infection

Objectives: To investigate the electrooculogram (EOG) and an expanded battery of electroretinograms (ERGs) in HIV-infected subjects without retinopathy at two different levels of immunosuppression. Consideration was given to the possible effects of serum levels of vitamin A. Methods: Two groups of neurologically normal HIV-positive subjects with CD4+ cell counts of <200 ( n=17) or >400 ( n=19) were contrasted with 20 HIV-negative controls. Rod ERGs, oscillatory potentials and cone ERGs were obtained using ganzfeld stimulation. A sequence of dark- and light-adapted EOG recordings was analyzed to obtain light/dark ratios. The HIV-positive subjects underwent a comprehensive ophthalmologic examination. Results: Intergroup comparisons failed to reveal any significant intergroup differences. Abnormal ERG findings, those exceeding the 98% confidence limits, occurred in 11% (4/36) of the HIV-positive subjects. One of these subjects was hyporetinemic and another had a subnormal retinol level. No subjects had abnormal EOGs. Conclusions: HIV infection influenced retinal function in 11% of a group of neurologically normal subjects without clinical signs of retinopathy. The profile of electrophysiological findings suggested predominant functional deficits involving middle or inner retinal layers. Vitamin A deficiency and possible vascular changes could account for the observed ERG abnormalities.

Hereditary Pigmented Paravenous Chorioretinal Atrophy

Three male siblings, born of nonconsanguineous parents, manifested the characteristic paravenous bone spicule accumulation typically seen in pigmented paravenous chorioretinal atrophy. The wide range of fundus appearances was apparent. The electroretinogram confirmed a localized dystrophy, and an abnormal electro-oculogram in the least affected brother suggested a more widespread abnormality. The onset of the disorder in all three brothers was early in life (possibly congenital), and there was minimal, if any, progression. The mode of inheritance could not be established. Because some mildly affected individuals will be asymptomatic and have minimal fundus abnormalities, it is important to examine all family members when considering the diagnosis of pigmented paravenous chorioretinal atrophy.

Electrophysiologic Studies in Birdshot Chorioretinopathy

We investigated retinal function in 16 patients with birdshot chorioretinopathy. Consistent abnormalities of dark adaptation, color vision, visual field, electro-oculography, electroretinography, and visual-evoked cortical potentials were found. They included raised thresholds of dark adaptation, acquired dyschromatopsia, mainly of the blue-yellow type, an electroretinogram with reduced amplitude, increased latency of the b-wave and absent oscillatory potentials, an abnormal electro-oculogram, and in many a marked disturbance in the pattern reversal visual-evoked cortical potential. The a-wave of the electroretinogram, the fast oscillations of the standing potential, and the flash visual-evoked cortical potential were well preserved. The nature of the abnormalities suggests that dysfunction was caused by inner retinal disease. Little evidence indicated outer retinal dysfunction resulting from choroidal inflammation.

Methyl Bromide Optic Atrophy

A 32-year-old fumigation assistant developed systemic and neuro-ophthalmic manifestations of methyl bromide poisoning, including increased serum bromide level (6.6 mg/100 ml), paresthesias and burning dysesthesia on his hands and feet, and visual impairment. Ocular examination showed mild bilateral decrease in vision, temporal optic nerve head pallor, severely attenuated visual-evoked response amplitudes and normal latencies, a normal electroretinogram, an abnormal electrooculogram, and a severe deuteranomalous (green) defect on Farnsworth-Munsell 100-hue testing. His vision had not improved 12 months after the initial exposure.

Vitelliform Lesions Developing in Normal Fundi

Two patients with Best's macular dystrophy, photographically documented, developed vitelliform lesions in previously normal or nearly normal fundi. The patients were studied prospectively because their brother had Best's disease. The first patient, a 6-year-old boy, had normal-appearing fundi in February 1974, but in October 1974 he had developed a vitelliform lesion in the left macula. His electro-oculogram (EOG) was severely abnormal in both eyes. His 12-year-old syster had an essentially normal fundus appearance and an abnormal EOG in both eyes in November 1971. In October 1975, she had an extramacular vitelliruptive lesion in the right eye and a typical Best's lesion in the left macula.

Hamartoma of the Retinal Pigment Epithelium

A 9-year-old boy had a unilateral ocular lesion characterized by a broadly elevated mass at the level of the retinal pigment epithelium. The mass showed hyperpigmented borders, overlying retinal constracture, retinal vessel tortuosity, and vitreous condensations. Electrophysiologic testing revealed an abnormal electrooculogram.

The cone degenerations.

The cone degenerations.