ABSTRACT
AIMS: Optic nerve hypoplasia (ONH), which is defined as a congenital deficiency of retinal ganglion cells, may also involve more distal layers of the retina. We investigated electrophysiological function of the retina in ONH using electroretinograms (ERGs). METHODS: ERGs were recorded from 48 subjects (3.5-35 months) with unilateral or bilateral ONH. Pattern reversal (4 degrees checks) was presented under chloral hydrate sedation, using an optical system to correct a cycloplegic refraction. A photopic flash stimulus was also used. Fundus photographs were used to measure the disk diameter/disk macula ratio (DD/DM), and to document other clinical signs. Eyes were classified as moderate (0.15-0.3) or severe (<0.15) ONH, and those with DD/DM greater than 0.3 were used as reference eyes. RESULTS: Pattern ERG recording was completed in 89 eyes and was detectable in 80% of eyes with ONH (61/76 tested) and in all 13 reference eyes. Photopic flash ERGs were of good quality in all eyes. The severity of ONH correlates with the amplitude of the photopic flash b-waves and with the amplitude of the N95 component of the pattern ERG (P<0.01). However, the ERGs to large patterns were well preserved (>3.5 microV) in 10 of 35 eyes with severe ONH. Tortuous retinal vessels in eyes with either moderate or severe ONH were associated with smaller amplitude photopic b-waves and markedly diminished or undetectable pattern ERGs. CONCLUSIONS: This study supports the hypothesis that retinal dysfunction distal to the ganglion cells is common in ONH, but is not predictable on the basis of ONH severity alone. Additionally, tortuous retinal vessels in ONH may be a sign associated with retinal dysfunction.
Subject(s)
Optic Nerve/abnormalities , Pattern Recognition, Visual , Retina/physiopathology , Child, Preschool , Electroretinography/methods , Female , Humans , Infant , Male , Photic Stimulation/methods , Retinal Ganglion Cells/pathology , Signal Processing, Computer-AssistedABSTRACT
During visual excitation, rhodopsin undergoes photoactivation and bleaches to opsin and all-trans-retinal. To regenerate rhodopsin and maintain normal visual sensitivity, the all-trans isomer must be metabolized and reisomerized to produce the chromophore 11-cis-retinal in biochemical steps that constitute the visual cycle and involve the retinal pigment epithelium (RPE; refs. 3-8). A key step in the visual cycle is isomerization of an all-trans retinoid to 11-cis-retinol in the RPE (refs. 9-11). It could be that the retinochrome-like opsins, peropsin, or the retinal G protein-coupled receptor (RGR) opsin12-16 are isomerases in the RPE. In contrast to visual pigments, RGR is bound predominantly to endogenous all-trans-retinal, and irradiation of RGR in vitro results in stereospecific conversion of the bound all-trans isomer to 11-cis-retinal. Here we show that RGR is involved in the formation of 11-cis-retinal in mice and functions in a light-dependent pathway of the rod visual cycle. Mutations in the human gene encoding RGR are associated with retinitis pigmentosa.
Subject(s)
Eye Proteins/metabolism , Eye/metabolism , Receptors, Cell Surface/metabolism , Receptors, G-Protein-Coupled , Retinaldehyde/metabolism , Rhodopsin/metabolism , Animals , Darkness , Dose-Response Relationship, Radiation , Electroretinography , Eye/radiation effects , Eye Proteins/genetics , Light , Mice , Mice, Mutant Strains , Models, Chemical , Photic Stimulation , Receptors, Cell Surface/genetics , Retinal Rod Photoreceptor Cells/metabolism , Retinal Rod Photoreceptor Cells/radiation effects , Rhodopsin/radiation effectsSubject(s)
Eye Proteins/genetics , Genetic Linkage , Point Mutation , Retinal Degeneration/genetics , X Chromosome , Adult , Child , Child, Preschool , DNA Mutational Analysis , Electroretinography , Exons , Female , Humans , Male , Mutation, Missense , Pedigree , Phenotype , Polymerase Chain Reaction , Retinal Degeneration/diagnosisABSTRACT
Pattern electroretinograms are small physiologic signals that require good patient cooperation and long recording times, particularly when conditions are not optimal. Six electrodes were compared to evaluate their efficacy. Pattern electroretinograms were recorded in eight healthy volunteers to high-contrast, pattern-reversal checks (40' width) with Burian-Allen, DTL fiber, C-glide, gold foil, HK loop and skin electrodes. Raw data for 320 reversals were analyzed off-line to evaluate signal amplitude, quality, P50 and N95 peak times, artifact rate and electrical noise. Insertion time, impedance and subjective comfort were also assessed. The Burian-Allen contact lens electrode gave the largest signal and lowest impedance but was the least comfortable and had the highest artifact rate (p < 0.01). A skin electrode on the lower eyelid produced the smallest pattern electroretinogram with the poorest quality (p < 0.05). The four other electrodes were foil or fiber electrodes in contact with the tear film, conjunctiva and/or the inferior cornea. The signal from these showed only minor differences. When electrodes are compared for pattern electroretinograms recording, the foil and fiber electrodes do not differ substantially but contact lens and skin electrodes show substantial disadvantages.
