PURPOSE: To investigate the clinical manifestations and diagnoses of optic disc swelling. METHODS: The medical records of 49 patients who experienced optic disc swelling between March 2008 and June 2009 were retrospectively reviewed. The characteristics of non-arteritic anterior ischemic optic neuropathy (NA-AION) and optic neuritis (ON), which showed optic disc swelling most commonly, were compared. RESULTS: NA-AION was the most common disorder (34.7%) that presented with optic disc swelling. ON was identified in 15 patients (30.6%). Seven out of 49 patients (14.3%) had intracranially associated diseases, such as papilledema and compressive optic neuropathy. Pseudopapilledema was noted in four patients (8.2%). Other diseases (e.g., papillophlebitis, neuroretinitis, and diabetic papillopathy) were seen in six patients (12.2%). Ocular pain was observed more commonly in patients with ON (p = 0.001). Patients with ON expected a better visual prognosis than patients with NA-AION (0.12 +/- 0.32 vs. 0.49 +/- 0.35, p = 0.001). CONCLUSIONS: NA-AION and ON should be considered in the differential diagnosis when patients with optic disc swelling present to the neuro-ophthalmology clinic. Detailed history taking and supportive examinations, such as visual field, color-vision and imaging tests, should also be performed as indicated. Regular follow-up of such exams is necessary for the differential diagnosis of these diseases.
Adult ; Female ; Humans ; Male ; Middle Aged ; Optic Nerve Diseases/complications/etiology ; Optic Neuritis/complications/physiopathology ; Optic Neuropathy, Ischemic/complications/physiopathology ; Papilledema/*etiology ; Retrospective Studies ; Visual Fields

OBJECTIVETo investigate the progression of visual field loss and to explore the prognosis of glaucomatous optic neuropathy in patients with chronic angle-closure glaucoma (CACG) after their intraocular pressures were well controlled under 21 mmHg.

METHODSForty-seven eyes of 29 patients in the Department of Ophthalmology in PUMC Hospital were included. All the patients had at least two separate tests of visual fields using the 24-2 program of the Humphery Visual Field Analyzer after their intraocular pressure were well controlled under 21 mmHg after sugery. The visual fields of patients were followed routinely for at least 1 year. In addition, all patients were divided into 2 groups according to follow-up period: 1-2 years group and over 2 years group. Visual field scores were calculated with the Advanced Glaucoma Intervention Study (AGIS) method. The visual fields were divided 5 sections and the sensitivity and defect depth of each section were calculated.

RESULTNo statistically significant differences were found in terms of AGIS scores, localized sensitivities and localized defects within the time interval of the observation.

CONCLUSIONGlaucomatous optic neuropathy is not likely to progressively deteriorate in CACG cases once their intraocular pressure are well controlled under 21 mmHg.

Aged ; Female ; Follow-Up Studies ; Glaucoma, Angle-Closure ; physiopathology ; surgery ; Humans ; Intraocular Pressure ; Male ; Middle Aged ; Optic Disk ; physiopathology ; Optic Nerve Diseases ; physiopathology ; Retrospective Studies ; Visual Fields

A 32-year-old man with blurred vision in the right eye and headache presented with anterior uveitis, an intraocular pressure (IOP) of 60 mmHg, an open angle, no visual field defects, and normal optic nerve. He had a history of five previous similar attacks. In each of the previous instances, his anterior uveitis and high IOP were controlled with antiglaucoma medications and topical steroids. However, at the fifth attack, his optic disc was pale and a superior paracentral visual field defect was shown. Brain magnetic resonance image studies were normal. This case represents that a recurrent Posner-Schlossman syndrome (PSS)-induced optic disc atrophy likely due to ocular ischemia caused by a recurrent, high IOP. Although PSS is a self-limiting syndrome, we should manage high IOP and prevent ischemia of the optic nerve head by treating with ocular antihypertensive medications.
Atrophy/diagnosis/etiology ; Diagnosis, Differential ; Glaucoma, Open-Angle/*complications/diagnosis/physiopathology ; Humans ; *Intraocular Pressure ; Male ; Optic Disk/*pathology ; Optic Nerve Diseases/diagnosis/*etiology/physiopathology ; Syndrome ; Young Adult

PURPOSE: We analyzed the effect of the changes of the optic disc area (ODA) caused by the axial length and the refractive error, and the consequent changes of the distance from the optic disc margin to the circular scan (OD-CS) of Optical coherence tomography (OCT) on the measurement of the retinal nerve fiber layer thickness(RNFLT) were examined. METHODS: One hundred two eyes of 51 children (age range 4 to 15 years) were measured using OCT including the RNFLT. For the ODA and the OD-CS, the relative area formed by the ODA and the circular scan was obtained. In addition, the correlation of the refractive error and the axial length to the optic disc factors was assessed. RESULTS: As hyperopia progresses to myopia, the axial length became longer, the ODA became smaller (r=-0.442, p=0.000) and the OD-CS showed a tendency to increase (r=0.471, p=0.000). As the OD-CS became longer, the measured average RNFLT decreased significantly (r=-0.248, p=0.012), and the ODA and the OD-CS showed a significant correlation to the RNFL thickness that was measured in the nasal and inferior areas, the S2, N2 and N3 areas and the I1 area. CONCLUSIONS: As ODA becomes smaller and the OD-CS becomes longer, the RNFLT measured in the nasal and inferior areas, the S2, N2, N3, I1 area has a tendency to be thinner. Hence, consideration of the disc area is required when interpreting the RNFLT of these eyes.
Adolescent ; Aging/physiology ; Child ; Child, Preschool ; Female ; Glaucoma/diagnosis ; Humans ; Male ; Nerve Fibers/*pathology ; Optic Disk/*pathology ; Optic Nerve Diseases/*physiopathology ; Refraction, Ocular ; Refractive Errors/*physiopathology ; Retinal Ganglion Cells/*pathology ; Tomography, Optical Coherence ; Visual Acuity

PURPOSE: To evaluate the relationship between the structural damage as assessed by time-domain optical coherence tomography (OCT) and functional changes in glaucoma. METHODS: In total, 190 patients with normal tension glaucoma or primary open angle glaucoma were included in this study. The thickness of retinal nerve fiber layer (RNFL) around the optic disc and the area of RNFL defect were determined using OCT scans. The relationships between the RNFL thickness or area of the defect and visual field (VF) indices were assessed using the Lowess function, regression analysis and partial Spearman correlation. The differences between these associations depending on the stage of VF damage were further analyzed. Age, optic disc size, refraction, central corneal thickness and the presence of systemic disease were corrected for in order to exclude confounding factors. RESULTS: A logarithmic scale of RNFL thickness showed a negative linear relationship with VF indices. The area of the RNFL defect showed a weak correlation with the pattern of standard deviation, whereas the remnant RNFL thickness was moderately correlated with the pattern of standard deviation (partial Spearman correlation coefficient, 0.39, -0.47, respectively; p < 0.0001). Many outliers were detected in the Lowess-plotted graphs. Multiplication of the area and the inverted RNFL thickness showed a moderately correlated logarithmic relationship with the VF indices (partial Spearman correlation coefficient, 0.46; 95% confidence interval, 0.34 to 0.57; p < 0.0001). In the severe stage of VF damage, correlation between the area of the RNFL defect and mean deviation was significantly greater than in other stages (partial Spearman correlation coefficient, -0.66; p = 0.02). CONCLUSIONS: The thickness of the RNFL had a negative logarithmic correlation with the VF indices and was more relevant to the VF indices than the area of the RNFL defect, as measured by OCT.
Aged ; Female ; Glaucoma, Open-Angle/*physiopathology ; Humans ; Low Tension Glaucoma/*physiopathology ; Male ; Middle Aged ; Nerve Fibers/*pathology ; Optic Nerve Diseases/*physiopathology ; Retinal Ganglion Cells/*pathology ; Tomography, Optical Coherence ; Visual Field Tests ; Visual Fields/*physiology

PURPOSE: Though there are many reports regarding the structure-function relationship in glaucoma, they are too complicated to apply to the routine clinical setting. The aim of this study was to investigate the direct relationship between peripapillary retinal nerve fiber layer (RNFL) thickness measured by optical coherence tomography (OCT) and visual field (VF) severity indices computed by standard automated perimetry. METHODS: This cross-sectional comparative study included 104 glaucomatous patients and 59 healthy subjects. Peripapillary RNFL thickness was measured by spectral domain (SD) and time domain (TD) OCTs. Four glaucoma VF severity indices, including mean deviation (MD), pattern standard deviation (PSD), Collaborative Initial Glaucoma Treatment Study (CIGTS) VF score, and Advanced Glaucoma Intervention Study (AGIS) VF score, were calculated using standard automated perimetry. The Pearson's correlation coefficients (r) between the average and quadrants of peripapillary RNFL thicknesses and the four VF severity indices were calculated. RESULTS: In glaucomatous eyes, the r value between the average RNFL thickness measured by SD OCT and each VF severity index were 0.562, -0.514, -0.577, and -0.567 for the MD, PSD, CIGTS VF score, and AGIS VF score, respectively (all p < 0.001). Among each quadrant, the inferior RNFL thickness showed the largest r value; 0.587, -0.552, -0.613, and -0.598 for the MD, PSD, CIGTS VF score, and AGIS VF score, respectively (all p < 0.001). Measurements by TD OCT showed similar strengths of association with SD OCT. CONCLUSIONS: Moderate correlation was identified between peripapillary RNFL thicknesses measured by SD/TD OCT and glaucoma VF severity indices. Among each quadrant, the inferior RNFL thickness showed the greatest association with glaucoma VF severity indices. There was no significant difference according to the type of VF severity index or the type of OCTs.
Adult ; Aged ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged ; Nerve Fibers/*pathology ; Optic Nerve/*pathology ; Optic Nerve Diseases/*diagnostic imaging/physiopathology ; Retinal Ganglion Cells/*pathology ; Severity of Illness Index ; Tomography, Optical Coherence/*methods ; Visual Field Tests/methods ; Visual Fields/*physiology ; Young Adult

PURPOSE: To document the clinical features of disc hemorrhage in patients with branch retinal vein occlusion (BRVO) and normal tension glaucoma (NTG), and to evaluate the relationship between BRVO and NTG with disc hemorrhages. METHODS: From July 2001 to May 2006, sixteen patients with both NTG and BRVO in different eyes were successively collected from outpatient population of Seoul National University Hospital in this observational case series. The frequency and location of disc hemorrhages, history of associated systemic diseases, and the order of the time of diagnosis between NTG and BRVO were studied. RESULTS: All patients had unilateral BRVO, and their mean age was 63.3+/-10.6 years. Disc hemorrhages were detected in eight patients (50%) during the mean follow-up of 26.8 months (range, 3-96 months). Six patients (75%) had disc hemorrhages in the non-BRVO eyes and two patients (25%) in BRVO eyes. Five hemorrhages (62.5%) were located at inferior-temporal quadrant of the optic disc. History of systemic hypertension was identified in 12 patients (75.0%). In 11 patients (68.8%), NTG was diagnosed at the same time as BRVO. CONCLUSIONS: A higher frequency of disc hemorrhages was identified in patients with both BRVO and NTG. Therefore, some cases of NTG, especially with disc hemorrhages, may share a common vascular pathophysiology with BRVO.
Adult ; Aged ; Eye Hemorrhage/*etiology/pathology/physiopathology ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Fundus Oculi ; Glaucoma, Open-Angle/*complications/pathology/physiopathology ; Humans ; Intraocular Pressure ; Male ; Middle Aged ; Optic Disk/*pathology ; Optic Nerve Diseases/*etiology/pathology/physiopathology ; Retinal Vein Occlusion/*complications/pathology ; Retrospective Studies ; Severity of Illness Index ; Visual Acuity

A 44-year-old woman with Castleman disease presented with acute visual loss in the left eye. A full ophthalmologic examination and imaging were performed. Visual acuity was 20/20 in the right eye and 20/100 in the left eye. Total dyschromatopsia, a relative afferent pupillary defect, and a cecocentral scotoma were observed in the left eye. Mild disc edema, without leaking during fluorescein angiography, was also observed. Magnetic resonance imaging revealed a small cystic epidermoid-like lesion in the right prepontine and suprasellar cistern. Her visual acuity did not improve and deteriorated to 20/200 in the left eye at 22 months after the initial visual loss. Optic neuropathy may rarely be associated with Castleman disease and suggests a poor prognosis.
Adult ; Diagnosis, Differential ; Disease Progression ; Female ; Fluorescein Angiography ; Fundus Oculi ; Giant Lymph Node Hyperplasia/*complications/diagnosis ; Humans ; Magnetic Resonance Imaging ; Optic Nerve Diseases/diagnosis/*etiology/physiopathology ; Tomography, Optical Coherence ; Visual Acuity ; Visual Field Tests ; Visual Fields

OBJECTIVEAllgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia and alacrima and many cases have multi-systems disorder: endocrine, gastrointestinal tract, eyes and nervous system. This syndrome is also known as achalasia-addisonianism-alacrima syndrome or triple A syndrome. Allgrove syndrome is now known to be caused by mutations of AAAS gene encoding the aladin protein. In the present paper, we report a Chinese mainland girl with Allgrove syndrome with mutations in the AAAS gene.

METHODThe patient was a 7-year-old girl complained of coma and dark skin; she was treated as Addison disease for 2 years and had vomiting for 9 months before the second admission. Gene analysis was performed after extracting genomic DNA by amplification and sequencing of the specific fragments of AAA gene.

RESULTSThe patient was confirmed to have adrenal insufficiency at the age of 5 years and 6 months. During the second hospitalization, she was found to have a remarkable brisk reflexion, bilateral optic nerve atrophy, alacrima and achalasia besides ACTH resistance. The girl was born to consanguineous parents. Based on these findings, she was diagnosed as having Allgrove syndrome. Mutation analysis revealed a novel homozygous deletion of a single G, c.771delG, in exon 8 of the AAAS gene. This frame shift mutation was predicted to create a premature stop codon at locus 290, p.R258GfsX33, leading to a truncated and non-functioning aladin protein. Both the parents were heterozygous for the mutation.

CONCLUSIONThe clinical manifestations and AAAS gene mutations analysis confirmed the diagnosis of Allgrove syndrome. Gene analysis indicated that this syndrome is an autosomal recessive inherent disorder. ALADIN is significant for the normal cell function. When compared with reported cases, it seems that there are no remarkable relation between gene mutation loci and clinical manifestations in Allgrove syndrome.

Adrenal Insufficiency ; genetics ; Adrenocorticotropic Hormone ; blood ; China ; Consanguinity ; DNA ; analysis ; DNA Mutational Analysis ; Esophageal Achalasia ; genetics ; Exons ; Female ; Genetic Diseases, Inborn ; genetics ; Humans ; Lacrimal Apparatus Diseases ; genetics ; Mutation ; Nerve Tissue Proteins ; genetics ; Nuclear Pore Complex Proteins ; genetics ; Optic Atrophy ; genetics ; physiopathology