PURPOSE: We report a case of fundus albipunctatus discovered in a young patient. CASE SUMMARY: A 7.6-year-old female showed numerous small whitish-yellow flecks in the perimacular area and retinal periphery. Dark adapted 0.01 electroretinography (ERG) and dark adapted 3.0 ERG were profoundly reduced. At 26 months after the first visit, the best-corrected visual acuities were 1.0 right eye and 0.9 left eye. There were no pigmented lesions, atrophic lesions, or vascular abnormalities in the retina. Humphrey and Goldmann visual field tests were performed, but neither of the tests revealed any scotomas or other visual field defect. The number and size of characteristic numerous small whitish-yellow retinal flecks seemed almost unchanged. In spectral domain-optical coherence tomography (SD-OCT), the subretinal hyper-reflective lesions spanned the retinal pigment epithelium and the external limiting membrane. ERG showed improved dark adapted responses (dark adapted 0.01 ERG and dark adapted 3.0 ERG) after prolonged dark adaptation (2.5 hours). No family member showed any abnormal findings. CONCLUSIONS: Fundus albipunctatus is a rare disease in Koreans. We report a case diagnosed using fundus photography, SD-OCT, visual field tests, and ERG after prolonged dark adaptation (2.5 hours).
Child ; Dark Adaptation ; Electroretinography ; Female ; Humans ; Membranes ; Photography ; Rare Diseases ; Retina ; Retinal Pigment Epithelium ; Retinaldehyde ; Scotoma ; Tomography, Optical Coherence ; Visual Acuity ; Visual Field Tests ; Visual Fields

The retinal degeneration resulting from elevated intraocular pressure was evaluated through functional and morphological analyses, for better understanding of the pathophysiology of glaucoma. Ocular hypertension was induced via unilateral episcleral venous cauterization in rats. Experimental time was set at 1 and 3 days, and 1, 2, 4, and 8 weeks post-operation. Retinal function was analyzed using electroretinography. For morphological analysis, retinal tissues were processed for immunochemistry by using antibodies against the calcium-sensing receptor and calcium-binding proteins. Apoptosis was analyzed using the TUNEL method and electron microscopy. Amplitudes of a- and b-wave in scotopic and photopic responses were found to be reduced in all glaucomatous retinas. Photopic negative response for ganglion cell function significantly reduced from 1-day and more significantly reduced in 2-week glaucoma. Calcium-sensing receptor immunoreactivity in ganglion cells remarkably reduced at 8 weeks; conversely, protein amounts increased significantly. Calcium-binding proteins immunoreactivity in amacrine cells clearly reduced at 8 weeks, despite of uneven changes in protein amounts. Apoptosis appeared in both photoreceptors and ganglion cells in 8-week glaucomatous retina. Apoptotic feature of photoreceptors was typical, whereas that of ganglion cells was necrotic in nature. These findings suggest that elevated intraocular pressure affects the sensitivity of photoreceptors and retinal ganglion cells, and leads to apoptotic death. The calcium-sensing receptor may be a useful detector for alteration of extracellular calcium levels surrounding the ganglion cells.
Amacrine Cells ; Animals ; Antibodies ; Apoptosis ; Calcium ; Calcium-Binding Proteins ; Cautery ; Electroretinography ; Ganglion Cysts ; Glaucoma ; Immunochemistry ; In Situ Nick-End Labeling ; Intraocular Pressure ; Methods ; Microscopy, Electron ; Ocular Hypertension ; Rats ; Receptors, Calcium-Sensing ; Retina ; Retinal Degeneration ; Retinal Ganglion Cells ; Retinaldehyde

The purpose of this study was to investigate the application of various electroretinography (ERG) to the diagnosis of inner retinal dysfunction induced by mild intraocular pressure (IOP) elevation in a rat glaucoma model. For inner retinal function measurements, available photopic ERG protocols were applied under various light conditions including monochromatic combinations, which complement conventional scotopic ERG. Three episcleral veins in the right eyes of Sprague-Dawley rats were cauterized to induce an experimental model of glaucoma, leading to mild IOP elevation. ERG responses were measured before surgery and at 1, 2, 4, and 8 weeks after cauterization. We first confirmed that the amplitude reduction in the standard photopic b-wave was almost comparable to the amplitudes of scotopic a- and b-waves in glaucomatous eyes over time. We have implemented additional photopic ERG protocols under different stimulus conditions, which consisted of a longer duration and different monochromatic combinations. Such a change in the stimulations resulted in more pronounced differences in response between the two groups. Especially in normal animals, blue stimulation on a green background produced the largest b-wave and photopic negative response (PhNR) amplitudes and caused more pronounced oscillatory potential (OP) wavelets (individual components). In glaucomatous eyes, blue stimulation on a green background significantly reduced PhNR amplitudes and abolished the robust OP components. These results, by providing the usefulness of blue on green combination, suggest the applicable photopic ERG protocol that complements the conventional ERG methods of accessing the progression of glaucomatous damage in the rat retina.
Animals ; Cautery ; Complement System Proteins ; Diagnosis ; Electroretinography ; Glaucoma* ; Intraocular Pressure ; Models, Theoretical ; Rats* ; Rats, Sprague-Dawley ; Retina* ; Retinaldehyde ; Veins

Although it is well known that sleep disturbances can be developed in complete blindness, normally entrained circadian rhythm was observed in the majority of patients with partial blindness. Here, we describe a case with circadian rhythm sleep-wake disorder in partial loss of light perception. A 58-year-old man presented with difficulty in sleep initiation and excessive daytime sleepiness after retinal surgery. The electroretinography revealed partial impairment of light perception in the right side and preserved light perception in the left side. He was diagnosed as circadian rhythm sleep-wake disorder due to impaired light perception. While taking 2 mg of melatonin regularly at 9 every night, his sleep cycle and difficulty in sleep initiation were gradually improved and became fully normalized after 2 weeks. Circadian rhythm sleep-wake disorder could be developed even in partial blindness. Melatonin supplements could effectively improve the circadian rhythm sleep-wake disorder in partial blindness, like as in complete blindness.
Blindness ; Circadian Rhythm ; Electroretinography ; Humans ; Melatonin ; Middle Aged ; Retinaldehyde

BACKGROUNDCollapsin response mediator protein-2 (CRMP2) has been shown to be involved in ischemia/hypoxia (IH) injury. We determined whether CRMP2 modulates ischemic injury in the retinal of Ocular ischemic syndrome (OIS). This study was to explore the molecular mechanisms underlying OIS in a novel mice model.

METHODSExperiments were performed on adult male C57/BL6 mice that received bilateral internal carotid arteries ligation for 1, 2, or 4 weeks. The mice received injection of calpeptin group before occlusion for 4 weeks or not. The expression of CRMP2 in the retinal was examined by western blotting (WB) analysis and immunohistochemical analysis (IHC). The effects of ischemic injury on retinal were evaluated by fundus examination, fundus fluorescein angiography, electroretinogram, cell counting of retinal ganglion cell (RGC), and measurement of the thickness of the retina.

RESULTSThe veins dilated after chronic ischemia. In the electroretinography, the amplitudes of a- and b-waves kept diminishing in an ischemia time-dependent manner. Moreover, the tail vein-retinal circulation time prolonged in the 1- and 2-week group. In comparison, thickness of the retina decreased gradually with the ischemia time elapsed. WB analysis showed the CRMP2 and p-CRMP2 levels decreased in the 2- and 4-week groups. The results of IHC analysis were compatible with our results of WB. The loss of RGCs, decrease of the total reaction time and reduction of CRMP2 was alleviated by intravitreal injection of calpeptin.

CONCLUSIONSThese results revealed that bilateral ligation of the internal carotid artery causes retinal ischemia in mice. Moreover, CRMP2 might play a pivotal role during the ischemic injury in the retina and inhibit the cleavage of CRMP2 can ameliorate the IH injury.

Animals ; Disease Models, Animal ; Electroretinography ; Intercellular Signaling Peptides and Proteins ; genetics ; metabolism ; Ischemia ; genetics ; metabolism ; pathology ; Male ; Mice ; Mice, Inbred C57BL ; Nerve Tissue Proteins ; genetics ; metabolism ; Retinal Diseases ; genetics ; metabolism ; pathology ; Retinal Ganglion Cells ; metabolism ; pathology

In neurosurgical procedures that may cause visual impairment in the intraoperative period, the monitoring of flash visual evoked potential (VEP) is clinically used to evaluate visual function. Patients are unconscious during surgery under general anesthesia, making flash VEP monitoring useful as it can objectively evaluate visual function. The flash stimulus input to the retina is transmitted to the optic nerve, optic chiasm, optic tract, lateral geniculate body, optic radiation (geniculocalcarine tract), and visual cortical area, and the VEP waveform is recorded from the occipital region. Intraoperative flash VEP monitoring allows detection of dysfunction arising anywhere in the optic pathway, from the retina to the visual cortex. Particularly important steps to obtain reproducible intraoperative flash VEP waveforms under general anesthesia are total intravenous anesthesia with propofol, use of retinal flash stimulation devices using high-intensity light-emitting diodes, and a combination of electroretinography to confirm that the flash stimulus has reached the retina. Relatively major postoperative visual impairment can be detected by intraoperative decreases in the flash VEP amplitude.
Anesthesia, General* ; Anesthesia, Intravenous ; Electroretinography ; Evoked Potentials, Visual* ; Geniculate Bodies ; Humans ; Intraoperative Period ; Monitoring, Intraoperative* ; Neurosurgical Procedures ; Occipital Lobe ; Optic Chiasm ; Optic Nerve ; Optic Tract ; Propofol ; Retina ; Retinaldehyde ; Vision Disorders ; Visual Cortex

PURPOSE: To determine whether the simultaneous recording of photopic electroretinography (ERG) and flash visual evoked potential (VEP) can predict the postoperative outcome in diabetic cases where massive vitreous hemorrhage precludes fundus observation. METHODS: The photopic ERG and flash VEP were recorded simultaneously on 20 eyes of 20 normal subjects, and 23 eyes of 23 patients who were diagnosed with Grade IV vitreous hemorrhage d/t diabetic retinopathy. Of the 23 patients, fellow eyes were diagnosed with proliferative diabetic retinopathy and they underwent pars plana vitrectomy after the test. Three groups were analyzed the responses of photopic ERG and flash VEP. Best corrected visual acuity was also checked before and after the surgery. After the 8 weeks after the vitrectomy, two groups were formed, based on the outcome of surgery and these two groups were analyzed the preoperative response of photopic ERG and flash VEP. RESULTS: When comparing the groups between proliferative diabetic retinopathy and normal eyes, Grade IV vitreous hemorrhage and fellow eyes, there was a statistically significant (p < 0.05) difference in a wave amplitude, a wave implicit time, b wave amplitude, b wave implicit time of photopic ERG and P2 peak time of flash VEP. In addition, a wave amplitude of photopic ERG showed the best predictive ability (area under receiver operating characteristic [AUROC] curve value of 0.88) when comparing improved visual acuity group to the unimproved visual acuity group. CONCLUSIONS: Simultaneous recordings of photopic ERG and flash VEP showed the decreased function of retina and optic pathway on eyes with vitreous hemorrhage precluding inspection of the fundus. In addition, preoperative photopic ERG and flash VEP can safely predict the outcome of vitrectomy in dense vitreous hemorrhage of diabetics.
Diabetic Retinopathy* ; Electroretinography* ; Evoked Potentials, Visual* ; Humans ; Retina ; ROC Curve ; Visual Acuity ; Vitrectomy ; Vitreous Hemorrhage*

Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. This is the first report on a molecular genetic diagnosis of choroideremia in Korean individuals. Molecular diagnosis of choroideremia should be widely adopted for proper diagnosis and the development of new treatment modalities including gene therapy.
Atrophy ; Blindness ; Choroideremia* ; Clinical Coding ; Diagnosis ; Electroretinography ; Exons ; Genetic Therapy ; Humans ; Introns ; Molecular Biology ; Multimodal Imaging ; Night Blindness ; Visual Fields

Autoimmune retinopathy (AIR) is an immune-mediated retinopathy, resulting from an immunologic process caused by the aberrant recognition of retinal antigens as autoantigens. The diagnosis of AIR involves the detection of antiretinal antibodies with concurrent clinical and electrophysiological evidence of retinopathy. A 40-year-old patient presented with progressive loss of bilateral vision over several months. A fundus examination was unremarkable. Spectral domain optical coherence tomography revealed a blurred photoreceptor ellipsoid zone at the subfoveal region in both eyes with more prominent disruption in the left eye. Full-field electroretinography (ERG) showed relatively normal rod and cone responses in the right eye, and decreased photopic bwaves with minimal attenuation of a-waves in the left eye. Multifocal ERG demonstrated slightly reduced amplitude of the inner segment ring in the right eye and decreased amplitudes and delayed latencies of all modalities in the left eye. The patient was suspected to have AIR and it was supported by positive Western blots for 23-kDa protein, enolase (46-kDa), aldolase (40-kDa), 62-kDa and 78-kDa proteins and by immunohistochemical staining of human retinal bipolar and ganglion cells. Despite the immunosuppressive treatment, the destruction of the retinal photoreceptors progressed, and immunosuppressive interventions produced very little visual improvement. We report on what is, to the best of our knowledge, the very first case of serologically confirmed nonparaneoplastic AIR in Korea.
Autoantibodies/*blood/immunology ; Autoantigens ; Autoimmune Diseases/*immunology ; Electroretinography ; Humans ; Immunologic Factors ; Paraneoplastic Syndromes/*immunology ; Paraneoplastic Syndromes, Ocular ; Phosphopyruvate Hydratase ; Recoverin ; Republic of Korea ; Retina/*immunology ; Retinal Diseases/*immunology ; Tomography, Optical Coherence

Electric Injuries ; pathology ; Electroretinography ; Humans ; Macula Lutea ; pathology ; Male ; Middle Aged ; Tomography, Optical Coherence