A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis

No abstract available.

ASYMMETRY OF PREOPERATIVE INCISION DESIGN MARKINGS FOR UPPER BLEPHAROPLASTY / Шинэ санаа Шинэ нээлт

@#BACKGROUND: Loss of skin elasticity due to redundancy of the upper eyelid (dermatochalasis) and falling of the upper eyelid border to a lower position (blepharoptosis) are often the earliest signs of facial aging. Upper eyelid blepharoplasty is an effective procedure to establish a good eyelid position, and is the most common facial cosmetic procedure [1]. When performing upper eyelid blepharoplasty, eyelid symmetry is essential for a satisfactory surgical outcome. Even if not possible, every surgeon tries to achieve complete symmetry when performing aesthetic eyelid surgery [2]. Several previous studies by surgeons with > 10 years of experience reported how preoperative incision markings should be made to achieve satisfactory surgical outcomes and excellent surgical results for upper eyelid blepharoplasty [3-7]. However, none of these studies investigated naturally occurring asymmetry when applying a preoperative design for upper blepharoplasty incision markings. During the preoperative design step, we noticed certain asymmetric tendencies. We therefore characterised these differences to ensure a more effective preoperative design for upper blepharoplasty incision markings for both eyelids. METHODS: This retrospective study examined 22 patients who underwent bilateral upper blepharoplasty surgery resulting from senile dermatochalasis and/or blepharoptosis. The initial preoperative incision design markings were drawn with the patient sitting upright. Then, with the patient in a supine position, preoperative design photographs were taken. We measured medial canthal excision angle (MCA), maximal lid excision height (MLH), maximal lid excision width (MLW), peak point angle, and peak point distance and compared measurements between both upper eyelids designs using Image J software. RESULTS: The mean MCA for the right side (30.68 ± 10.16°) was significantly different to that for the left side (35.39 ± 13.82°; p < 0.001). The mean MLH for the right side (1.17 ± 0.24 cm) was significantly different to that for the left side (1.24 ± 0.25 cm; p = 0.002). The mean MLW for the right side (0.72 ± 0.19 cm) was significantly different to that for the left side (0.77 ± 0.21 cm; p = 0.011). The mean peak point angle for the right side (15.67 ± 5.09°) was significantly different to that for the left side (18.11 ± 5.49°; p = 0.001). The mean peak point distance for the right side (2.41 ± 0.31°) was significantly different to that for the left side (2.22 ± 0.28 cm; p = 0.001). CONCLUSION: In upper blepharoplasty, the preoperative incision marking design measurements of the left side were significantly greater than those of the right side. The symmetry can therefore be maximised by including the asymmetries in the preoperative design.

Simultaneous Recording of Flash Electroretinography and Visual Evoked Potential in Vitreous Hemorrhage with Diabetic Retinopathy

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.

Retinal Nerve Fiber Layer Thickness Measurement Using Swept Source Optical Coherence Tomography in Healthy Korean

PURPOSE: To investigate retinal nerve fiber layer (RNFL) thickness using swept source (SS)-optical coherence tomography (OCT) in healthy Koreans and to evaluate the effects of age on the distributional variability of thickness. METHODS: We performed a retrospective review of 309 normal eyes presenting for examination of peripapillary nerve fiber layer thickness measured by SS-OCT (DRI OCT-1, Atlantis SS-OCT, Topcon, Tokyo, Japan) from July 2014 to February 2016. The patients were between the ages of 20 and 79 without systemic or ocular disease. The patients were divided into 3 age groups of 20 to 39 years (85 eyes), 40 to 59 years (140 eyes), and 60 to 79 years (84 eyes). The groups were matched based on average RNFL thickness and quadrant and 12 o'clock position RNFL thickness. RESULTS: The average RNFL thickness of the inferior quadrant was the thickest of the layers and revealed a bimodal distribution. In the three groups, the thicknesses of the average RNFL, quadrant, and 12 o'clock RNFL decreased with age. There was significant difference in the measurements (p < 0.05) of quadrant RNFL thickness except that in the nasal quadrant (p = 0.068). CONCLUSIONS: The thickness of the circumpapillary retinal nerve fiber layer measured by SS-OCT differs according to age and analysis of normal values by age can be useful in the diagnosis of disease.

Retinal Nerve Fiber Layer Thickness Measurement Using Swept Source Optical Coherence Tomography in Healthy Korean

PURPOSE: To investigate retinal nerve fiber layer (RNFL) thickness using swept source (SS)-optical coherence tomography (OCT) in healthy Koreans and to evaluate the effects of age on the distributional variability of thickness. METHODS: We performed a retrospective review of 309 normal eyes presenting for examination of peripapillary nerve fiber layer thickness measured by SS-OCT (DRI OCT-1, Atlantis SS-OCT, Topcon, Tokyo, Japan) from July 2014 to February 2016. The patients were between the ages of 20 and 79 without systemic or ocular disease. The patients were divided into 3 age groups of 20 to 39 years (85 eyes), 40 to 59 years (140 eyes), and 60 to 79 years (84 eyes). The groups were matched based on average RNFL thickness and quadrant and 12 o'clock position RNFL thickness. RESULTS: The average RNFL thickness of the inferior quadrant was the thickest of the layers and revealed a bimodal distribution. In the three groups, the thicknesses of the average RNFL, quadrant, and 12 o'clock RNFL decreased with age. There was significant difference in the measurements (p < 0.05) of quadrant RNFL thickness except that in the nasal quadrant (p = 0.068). CONCLUSIONS: The thickness of the circumpapillary retinal nerve fiber layer measured by SS-OCT differs according to age and analysis of normal values by age can be useful in the diagnosis of disease.

Cerebrospinal Fluid Pressure and Trans-lamina Cribrosa Pressure Difference in Open-angle Glaucoma: KNHANES V

PURPOSE: To investigate the relationships between estimated cerebrospinal fluid pressure (CSFP) and trans-lamina cribrosa pressure difference (TLCPD) in open-angle glaucoma (OAG) in Korean population. METHODS: A total of 10,801 eyes were included from the Korean National Health and Nutrition Examination Survey V. All participants (aged 19 years or older) were classified as non-glaucomatous group, OAG suspect group and OAG group. CSFP was calculated as CSFP (mm Hg) = 0.44 body mass index (kg/m²) + 0.16 diastolic blood pressure (mm Hg) - 0.18 age (years) - 1.91. TLCPD was calculated by subtracting CSFP from intraocular pressure. RESULTS: The mean estimated CSFP was (8.7 ± 3.3 mm Hg vs. 11.6 ± 3.7 mm Hg, 11.2 ± 3.8 mm Hg vs. 11.6 ± 3.7 mm Hg) was lower, and the mean TLCPD (5.7 ± 4.4 mm Hg vs. 2.2 ± 4.4 mm Hg, 3 ± 4.7 mm Hg vs. 2.2 ± 4.4 mm Hg) was higher in the OAG group and in the OAG suspect group than in the non-glaucomatous control group, respectively (p < 0.001). After adjusting relating factor with CSFP and TLCPD using simple linear regression and multivariate analyses, the mean estimated CSFP was distributed lower (p < 0.001; beta: -0.12; B: -2.306; 95% confidence interval [CI]: -2.717, -1.895) in OAG group than in non-glaucomatous group and the mean TLCPD was distributed higher (p < 0.001; beta: 0.099; B: 1.349; 95% CI: 0.977, 1.72; p < 0.001; beta: 0.118; B: 2.776; 95% CI: 2.264, 3.289) in OAG suspect group and in OAG group than in non-glaucomatous group, respectively. CONCLUSIONS: Estimated CSFP and calculated TLCPD showed essential association with OAG presence. It supports the potential role of low CSFP in the pathogenesis of OAG.

Diagnostic Ability of Macular Ganglion Cell Layer Measurements in Glaucoma Using Swept Source Optical Coherence Tomography

PURPOSE: To evaluate diagnostic ability of macular ganglion cell complex (mGCC), macular ganglion cell inner plexiform layer (mGCIPL) measurements in glaucoma using swept source deep range imaging optical coherence tomography (DRI OCT-1, Topcon Co., Tokyo, Japan). METHODS: From August of 2014 to July of 2015, 109 eyes of 109 subjects were assessed for the average thickness and sectional thickness of both mGCC and mGCIPL to determine whether there exists any significant difference among advanced stage glaucoma group, early stage glaucoma group and normal group in Swept source OCT. Comparisons were also made between the above measurements and circumpapillary retinal nerve fiber layer (cpRNFL) thickness measurements in their diagnostic accuracy, sensitivity, and specificity. RESULTS: The diagnostic ability of mGCC based-mean thickness value (area under the curve [AUC] = 0.78/0.99) in detecting early stage glaucoma group as well as advanced stage group was not significantly different from that of cpRNFL thickness measurement. However, there was a significant difference in thickness between mGCIPL (AUC = 0.70) and cpRNFL in early stage glaucoma groups (p = 0.018). The sensitivities and specificities of mGCC were 0.95/0.97, and those of mGCIPL were 0.92/0.97, respectively. CONCLUSIONS: The two swept source OCT based methods measuring retinal ganglion cell layer thickness appeared to have a good diagnostic accuracy, high sensitivity and specificity in detecting glaucomatous eyes. Nevertheless, of the two methods, mGCC thickness measurement was more efficient in detecting early glaucomatous changes.

Long-Term Results of Transscleral Fixation of Posterior Chamber Intraocular Lens

PURPOSE: To investigate the long-term results of transscleral fixation of posterior chamber intraocular lens (IOL) for unstable posterior capsular supporting structure. METHODS: We performed a retrospective review of 67 patients (67 eyes) with unstable posterior capsular supporting structure who underwent transscleral fixation at Soonchunhyang University Bucheon Hospital from March 2005 to January 2013. Transscleral fixation without scleral flap was performed by a single surgeon. We analyzed the causes of transscleral fixation and compared postoperative best-corrected visual acuity (BCVA) and spherical diopter. RESULTS: Among the 67 eyes of 67 patients, the causes of transscleral fixation included IOL subluxation (33 cases, 49.2%), IOL dislocation (11 cases, 16.4%), intraoperative posterior capsule rupture (8 cases, 11.9%), aphakia associated with previous intraocular surgery (7 cases, 10.4%), crystalline lens disorder with zonular dialysis (4 cases, 5.9%) and IOL opacity (4 cases, 5.9%). The mean BCVA before surgery was 1.26 +/- 0.94 (log MAR) and the visual acuity improved to 0.59 +/- 0.71, 0.60 +/- 0.69, 0.58 +/- 0.70, 0.55 +/- 0.70, 0.60 +/- 0.58 and 0.66 +/- 0.70 (1 week, 1 month, 3 months, 1 year, 3 years and 5 years, respectively, after the surgery; p < 0.05). CONCLUSIONS: Posterior chamber IOL transscleral fixation in unstable posterior capsular supporting structure is effective for increasing visual acuity and spherical diopter. Specifically, the most improvement was observed at one month after surgery. Transscleral fixation is an adequate surgical procedure for fast improvement of visual acuity with long-term effects.

Unilateral Retinitis Pigmentosa: A Case Series and Literature Review

PURPOSE: We report 4 cases of unilateral retinitis pigmentosa (URP) with a literature review. METHODS: A retrospective, observational case series of 4 URP patients with no signs of bilateral involvement during the follow-up period of up to 5 years. RESULTS: The subjects were 4 female patients with an average age of 37 years. The mean follow-up period was 7 years. The subjects' blood analysis excluded any infective diseases. History of trauma or any family history of ocular diseases including retinitis pigmentosa was absent. The full-field electroretinograms (ERGs) were normal in the unaffected eyes and the affected eyes showed markedly low or undetectable responses. Computerized visual field examinations were normal in the unaffected eyes, while 3 of the affected eyes had total visual field loss and 1 had concentric narrowing within 20 degrees. CONCLUSIONS: A long term follow-up of at least 5 years is required for diagnosis of URP to exclude a delayed onset in the unaffected eye. ERG is a reliable test to monitor the course of the disease and to confirm the diagnosis when uncertain. The etiology of URP is unknown although several studies regarding genetic causes that resulted in URP have been reported in recent years.

Two Cases of Retinal Hemorrhage in Alcoholic Cirrhosis

PURPOSE: To report 2 cases of retinal hemorrhage due to anemia and thrombocytopenia in patients with alcoholic cirrhosis. CASE SUMMARY: (Case 1) A 45-year-old female with alcoholic cirrhosis who was treated in the gastroenterology department presented with reduced vision in both eyes. Fundus examination showed multiple preretinal and subretinal hemorrhages with macular involvement in both eyes. Hematological findings revealed severe anemia and thrombocytopenia. One month after the transfusion treatment her visual acuity was improved and retinal hemorrhages resolved. (Case 2) A 47-year-old male presented with painless loss of vision in the left eye 3 days after orthotopic liver transplantation for the treatment of alcoholic cirrhosis. Fundus examination showed preretinal hemorrhages in both eyes with macular involvement in the left eye. During the transplantation, hematological findings revealed severe anemia and thrombocytopenia. Three months after the transfusion treatment his visual acuity was improved and retinal hemorrhages nearly completely resolved. CONCLUSIONS: Hematological abnormalities due to alcoholic cirrhosis can cause retinal hemorrhage. In the present cases the retinal hemorrhages were resorbed and the visual acuity recovered.

Clinical Usefulness of Fresnel Ganzfeld Stimulator

PURPOSE: To compare electroretinogram (ERG) waveforms acquired using a ganzfeld stimulator and a Fresnel ganzfeld stimulator. METHODS: ERGs were recorded with a ganzfeld stimulator and a Fresnel ganzfeld stimulator from both eyes of 25 volunteers. Peak-to-trough amplitudes and peak implicit times were compared between both eyes and between a ganzfeld stimulator and a Fresnel ganzfeld stimulator. ERGs taken from the sitting and supine positions were also compared using the Fresnel ganzfeld stimulator. RESULTS: There was no statistically significant difference between the Fresnel ganzfeld stimulator and dome-shaped ganzfeld stimulator in amplitude and implicit time of dark adapted 0.01, 3.0 ERG, photopic 3.0 ERG, photopic 3.0 flicker. The differences in amplitude and implicit time between the right and left eyes were not influenced by the Fresnel ganzfeld stimulator. Additionally, no differences were observed in ERGs obtained from the sitting and supine positions using the Fresnel ganzfeld stimulator. CONCLUSIONS: The newly developed ganzfeld stimulator with a sealed Fresnel lens can be considered as a reliable alternative method for measuring ERGs. Fresnel ganzfeld stimulator is useful for patients having problems with mobility or uncooperative children.

Spectral-Domain Optical Coherence Tomography Findings of Vogt-Koyanagi-Harada Disease

PURPOSE: To report characteristics of Vogt-Koyanagi-Harada (VKH) disease as observed on spectral-domain optical coherence tomography (SD-OCT) images. CASE SUMMARY: (Case 1) A 38-year-old female presented with visual impairment in both eyes. On fundus examination, multifocal serous retinal detachment in the posterior pole was observed in both eyes. On enhanced SD-OCT, serous retinal detachment and cystoid macular edema in the outer retina were observed and the intraretinal fluid space was divided by a membranous structure forming an intraretinal compartmentalized cystic space. Under the diagnosis of VKH disease, the patient was treated with intravenous administration of methylprednisolone. After treatment, enhanced SD-OCT images showed decreased serous retinal detachment. (Case 2) A 58-year-old male presented with visual impairment in both eyes. On fundus examination, multifocal serous retinal detachment in the posterior pole was observed in both eyes. On enhanced SD-OCT, choroidal folds were observed and the membranous structure showed continuity with ellipsoid zone, suggesting the membranous structure was part of the outer photoreceptor layer of the adjacent attached retina. The patient was treated with intravenous administration of methylprednisolone. After treatment, enhanced SD-OCT images showed cystic space was decreased. CONCLUSIONS: SD-OCT images of VKH disease demonstrated multiple serous retinal detachments and intraretinal compartmentalized cystic space divided by a membranous structure. The membranous structure may be considered a part of the outer photoreceptor layer of the attached retina.

Combined Operation Assosciated with Ahmed Glaucoma Valve Implantation

PURPOSE: To evaluate surgical results after combined operation associated with Ahmed glaucoma valve (AGV) implantation. METHODS: A retrospective review was performed for 71 eyes of 67 patients who underwent combined operation associated with AGV implantation from June 2003 to August 2012. RESULTS: Pars plana vitrectomy or phacoemulsification combined with AGV implantation were performed for 16 eyes and AGV implantation alone was performed in 55 eyes. Mean IOP (mm Hg) and the number of antigluacoma agents for both the combined and single groups showed a statistically significant decrease (combined/single; p = 0.008/0.000, 0.002/ 0.000). Visual acuity (log MAR) was improved, but these differences were not statistically significant (combined/single; p = 0.309/0.052). CONCLUSIONS: Combined vitrectomy or phacoemulsification and AGV implantation for intractable glaucoma with vitreoretinal disease or cataract is considered to be the primary procedure because of its equivalent efficacy in lowering IOP, improving visual acuity and decreasing the number of glaucoma agents.

Changes in Electroretinogram Parameters after Panretinal Photocoagulation in Diabetic Retinopathy

OBJECTIVE: This study was performed to evaluate the effect of panretinal photocoagulation (PRP) on parameters of electroretinograms (ERG). METHODS: Retrospective study was performed on 58 eyes of 29 patients with proliferative diabetic retinopathy (PDR) who underwent PRP. ERG was performed in each patient before and after PRP, and each ERG parameters were compared between the pre- and post-PRP state. Also, the results of ERG performed after PRP were compared between two groups: one group showing obvious new vessels regression and the other group showing poor regression after PRP. RESULTS: Marked reduction in amplitude and delay in implicit time were observed in all patients (P0.05). CONCLUSION: PRP in diabetic retinopathy patients may affect not only the outer retina but also the cells within the inner nuclear layer, causing changes in ERG parameters. However, ERG was not a good indicator for representing the amount of new vessel regression in PDR.

Spontaneous Separation of Idiopathic Epiretinal Membrane in an Elderly Patient

PURPOSE: To report a case of spontaneous separation of idiopathic epiretinal membrane in an elderly patient. CASE SUMMARY: A 61-year-old male presented with decreased visual acuity in the right eye. He was diagnosed with idiopathic epiretinal membrane (ERM) in the right eye and posterior vitreous detachment (PVD) in both eyes. The patient underwent pars plana vitrectomy and ERM removal in the right eye. At postoperative 1 year, his vision in the right eye had improved, but idiopathic ERM developed in the left eye and visual acuity in the left eye decreased. Three years later, the ERM in the left eye resolved spontaneously and his vision increased. CONCLUSIONS: Herein we present a rare case of spontaneous separation of idiopathic ERM associated with a pre-existing PVD in an elderly patient and reviewed the available literatures regarding the possible mechanisms for the spontaneous separation of ERM in the presence of a pre-existing PVD.

Expression Profiles of F4/80 and Nestin in Ocular Immune Cells Following Pharmaceutically Induced Retinal Degeneration in Adult Mice

PURPOSE: To evaluate the expression patterns of F4/80 and nestin in the ciliary body and the optic nerve following N-methyl-N-nitrosourea (NMU)-induced retinal degeneration in adult mice. METHODS: After intraperitoneal injection of MNU (60 mg/kg) in adult mice, the eyes were enucleated at 2, 4, 7 and 30 days. Hematoxylin and eosin (H&E) stain, terminal deoxyribonucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) stain and immunohistochemical stains of F/80 and nestin were performed. RESULTS: After MNU treatment, the photoreceptors were destroyed by cell apoptosis. According to immunohistochemistry, F4/80 and nestin were not co-expressed in the control group, but F4/80 was expressed within the ciliary body and optic nerve in the MNU-treated group; the expression of nestin also increased. In the outer nuclear layer, F4/80 and nestin co-expressing cells were observed. CONCLUSIONS: In response to retinal damage, the F4/80 and nestin co-expressing cells migrated to the retina from the ciliary body and optic nerve and were activated.

ON and OFF Responses of the Electroretinogram in Patients with Glaucoma

PURPOSE: To investigate whether there is a difference in ON- and OFF-responses of the photopic electroretinogram (ERG) in glaucomatous eyes. METHODS: Photopic ERG and optical coherence tomography were performed in 15 normal, 13 glaucoma suspect, and 22 glaucoma subjects. Amplitudes and implicit times for a, b, d, i, photopic negative response (PhNR), and retinal nerve fiber layer thickness were compared among the three groups. RESULTS: The PhNROFF amplitude (microV) was 19.05 +/- 11.41 in the glaucoma group, 14.24 +/- 10.37 in the glaucoma suspect group, and 2.69 +/- 12.16 in the normal group, demonstrating a significant difference among the three groups (p < 0.01). The PhNRON amplitude (microV) was 20.15 +/- 13.99 in the glaucoma group, 31.49 +/- 17.09 in the glaucoma suspect group, and 37.59 +/- 9.53 in the normal group, a significant difference (p < 0.01). However, there was no significant difference between the three groups. The ON-OFF response PhNR amplitude was correlated with retinal nerve fiber thickness (r = 0.481, r = -0.480, respectively), and areas under the receiver operating characteristic curve were 0.782, and 0.718, respectively. CONCLUSIONS: There is a potential role for the ON-OFF response PhNR in early detection of glaucomatous damage.

A Single Isolated Cotton-Wool Spot not Associated with Systemic Diseases

PURPOSE: To present a case of a single isolated cotton-wool spot in a healthy patient. CASE SUMMARY: A 43-year-old woman with no systemic disease complained of sudden inferior field defect of the right eye. On fundoscopic examination of the right eye, a single soft white spot was observed in the superotemporal vascular arcade. An elevated hyper-reflective area in the inner retina corresponding to a white spot was observed on optical coherence tomography. Automated perimetry revealed an arcuate field defect which was wider than the cotton-wool spot. A complete workup for systemic diseases was within normal range except a positive rheumatoid factor. At the 2-week follow-up, the patient's subjective symptom improved and the white spot decreased. After 6 months, the cotton-wool spot disappeared and slit-like retinal nerve fiber layer (RNFL) defects corresponding to the location of the cotton-wool spot was noticed. One year later, disc and RNFL defect were unchanged but the previous field defect disappeared. CONCLUSIONS: Isolated cotton-wool spots can occur without serious systemic diseases in healthy patients. A single isolated cotton-wool spot in the present case disappeared spontaneously leaving permanent structural damage on the retina over time.

A Single Isolated Cotton-Wool Spot not Associated with Systemic Diseases

PURPOSE: To present a case of a single isolated cotton-wool spot in a healthy patient. CASE SUMMARY: A 43-year-old woman with no systemic disease complained of sudden inferior field defect of the right eye. On fundoscopic examination of the right eye, a single soft white spot was observed in the superotemporal vascular arcade. An elevated hyper-reflective area in the inner retina corresponding to a white spot was observed on optical coherence tomography. Automated perimetry revealed an arcuate field defect which was wider than the cotton-wool spot. A complete workup for systemic diseases was within normal range except a positive rheumatoid factor. At the 2-week follow-up, the patient's subjective symptom improved and the white spot decreased. After 6 months, the cotton-wool spot disappeared and slit-like retinal nerve fiber layer (RNFL) defects corresponding to the location of the cotton-wool spot was noticed. One year later, disc and RNFL defect were unchanged but the previous field defect disappeared. CONCLUSIONS: Isolated cotton-wool spots can occur without serious systemic diseases in healthy patients. A single isolated cotton-wool spot in the present case disappeared spontaneously leaving permanent structural damage on the retina over time.

Specific Spectral Domain Optical Coherence Tomographic Findings of Oguchi Disease

PURPOSE: To report specific spectral domain OCT findings of Oguchi disease diagnosed with fundoscopic examination and electrophysiological study. CASE SUMMARY: A 14-year-old patient visited our clinic with a complaint of night blindness for ten years. Fundoscopic examination showed a golden-yellow fundus reflex. After three hours of dark adaptation, the fundus color returned to normal (Mizuo-Nakamura phenomenon). In full-field ERG, rod b-wave was not detectable. The a-wave amplitude in maximal combined response increased after three hours of dark adaptation, although the b-wave amplitude was similar to the amplitude before dark adaptation, demonstrating a negative waveform. In the spectral domain OCT images of the perifoveal area, no gap between the retinal pigment epithelium and the inner segment/outer segment (IS/OS) junction was detected before prolonged dark adaptation, and a highly reflective band was shown. However, the gap appeared after three hours of dark adaptation, and two highly reflective bands were detected in the OCT images. CONCLUSIONS: The characteristic OCT finding in addition to the specific fundoscopic finding and full-field ERG results may be useful to diagnose Oguchi disease.