PURPOSE: To report a case of atypical Vogt–Koyanagi–Harada disease that occurred after an acute angle closure glaucoma attack. CASE SUMMARY: A 48-year-old female presented with bilateral visual disturbance accompanied by headache and ocular pain. The patient had no specific past medical or family history except taking oral contraceptives for 10 years. Despite the normalization of intraocular pressure in a local clinic, a shallow-depth anterior chamber and forward displacement of the iris–lens diaphragm remained unresolved. The depth of the anterior chamber had increased in both eyes after laser therapy but without recovery of her visual acuity. B-scans showed ciliochoroidal effusion. Anterior chamber inflammation was observed in both eyes. Optical coherence tomography showed lobulated and serous retinal detachment involving the macula of both eyes. However, fluorescence angiography findings showed no multiple hyperfluorescence, which is unusual for typical cases of Vogt–Koyanagi–Harada disease. The patient was diagnosed with atypical Vogt–Koyanagi–Harada disease and was treated with eyedrops and intravenous steroid pulse therapy, after which she was converted to oral medications with immunosuppressants. After 1 month, no serous retinal detachment was detected. After 3 months, best corrected visual acuity (logMAR) was 0.0 in both eyes, and there has been no recurrence on follow-up. CONCLUSIONS: Atypical Vogt–Koyanagi–Harada disease at presentation can mimic acute attacks of angle closure glaucoma. Therefore, if there is no improvement after treatment for angle closure glaucoma including laser iridotomy, other diseases including Vogt–Koyanagi–Harada disease must be considered and the patient should be closely monitored.
Anterior Chamber ; Contraceptives, Oral ; Diaphragm ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Glaucoma, Angle-Closure ; Headache ; Humans ; Immunosuppressive Agents ; Inflammation ; Intraocular Pressure ; Laser Therapy ; Middle Aged ; Ophthalmic Solutions ; Recurrence ; Retinal Detachment ; Tomography, Optical Coherence ; Uveomeningoencephalitic Syndrome ; Visual Acuity

PURPOSE: To investigate the factors associated with glaucoma in patients with pseudoexfoliation syndrome by comparing features of the anterior segments and ocular biometry according to the presence or absence of open-angle glaucoma in pseudoexfoliation syndrome. METHODS: We analyzed 96 patients (115 eyes) diagnosed as having pseudoexfoliation syndrome in this study. The patients were divided into two groups of simple pseudoexfoliation syndrome (64 patients, 76 eyes) and pseudoexfoliation glaucoma (32 patients, 39 eyes). We compared the age, sex, underlying disease, location of pseudoexfoliative material, iris change, degree of nuclear cataract, pupil dilatation, corneal endothelial cell counts, central corneal thickness, anterior chamber depth, axial length, corneal curvature, and intraocular pressure (IOP). RESULTS: There were no significant differences between the two groups in terms of age (p = 0.694), sex (p = 0.161), diabetes (p = 0.440), hypertension (p = 0.238), pseudoexfoliative material observed in anterior capsule (p = 0.700), pupillary margin (p = 0.210), iris depigmentation (p = 0.526), pupillary ruff loss (p = 0.708), degree of nuclear cataract (p = 0.617), pupil dilatation (p = 0.526), central corneal thickness (p = 0.097), anterior chamber depth (p = 0.283), axial length (p = 0.095), or horizontal and vertical corneal curvature (p = 0.066 and 0.306, respectively). In pseudoexfoliation glaucoma, significantly higher IOP (p = 0.026), a high frequency of membrane formation (p = 0.047), and decreased corneal endothelial cell counts (p = 0.048) were observed. CONCLUSIONS: Pseudoexfoliation syndrome with open-angle glaucoma was shown to be associated with high IOP, decreased corneal endothelial cell counts, and a high frequency of membrane formation. Therefore, when such changes are observed in pseudoexfoliation syndrome patients, a higher risk of open-angle glaucoma should be recognized, and careful attentionis required accordingly.
Anterior Chamber ; Biometry ; Cataract ; Dilatation ; Endothelial Cells ; Exfoliation Syndrome ; Glaucoma ; Glaucoma, Open-Angle ; Humans ; Hypertension ; Intraocular Pressure ; Iris ; Membranes ; Pupil

PURPOSE: To report a case of congenital glaucoma associated with nail-patella syndrome. CASE SUMMARY: A 20-day-old female was referred to our clinic for bilateral intraocular pressure (IOP) elevation and treatment of corneal opacities. Her IOP was 25 mmHg and 30 mmHg in the right and left eyes, respectively. After a diagnosis of congenital glaucoma, bilateral trabeculotomy was performed under general anesthesia. On the first postoperative day, the IOP was 12 mmHg in the right eye and 10 mmHg in the left eye, and remained stable thereafter. The infant was the second of fraternal twins (birth weight of 2.42 kg) and had no family history of any particular disease. During the regular checkup, she was referred to an orthopedic clinic for disorders of the elbow and knee. She presented with a dystrophic thumbnail, patella hypoplasia, elbow hypoplasia, and bilateral triangular protrusions of the lateral iliac crest (iliac horn). Based on the above findings, typical nail-patella syndrome was diagnosed and a mutation in the LMX1B gene was detected. CONCLUSIONS: If glaucoma patients have nail deformities or musculoskeletal abnormalities, nail-patella syndrome should be suspected and a multidisciplinary approach should be conducted.
Anesthesia, General ; Congenital Abnormalities ; Corneal Opacity ; Diagnosis ; Elbow ; Female ; Glaucoma ; Humans ; Infant ; Intraocular Pressure ; Knee ; Musculoskeletal Abnormalities ; Nail-Patella Syndrome ; Orthopedics ; Patella ; Trabeculectomy ; Twins, Dizygotic

PURPOSE: To characterize the development of glaucoma, age of glaucoma onset, and treatments for patients with a facial port-wine stain (PWS). METHODS: We performed a retrospective analysis of the medical records of 58 patients (116 eyes) with facial PWS between January 2000 and August 2016. We noted patients' age at the initial examination, cup-to-disc ratio, corneal diameter, occurrence of ocular hypertension, development of glaucoma, age of glaucoma onset, and treatments. We compared the clinical features of eyes that developed glaucoma with those that did not develop glaucoma. Among those eyes with glaucoma, we investigated the differences between eyes that underwent surgery and those that did not undergo surgery. RESULTS: Among the 58 patients with a facial PWS (116 eyes), glaucoma was diagnosed in 38 patients (46 eyes; 39.66%). Of these, 26 patients (27 eyes; 58.69%) underwent glaucoma surgery. PWS-associated glaucoma usually developed by the age of 2 years (85.61%). In all patients, glaucoma developed on the same side of the face as the PWS. Of the 58 patients, 19 (32.76%) showed neurological symptoms, including seizures, developmental delays, intellectual disabilities, or hemiplegia, and 32 (55.17%) were diagnosed with Sturge-Weber syndrome. The mean number of glaucoma surgeries was 1.55 ± 0.93. The initial surgery included trabeculectomy (7 eyes), trabeculotomy (5 eyes), combined trabeculotomy/trabeculectomy (13 eyes), and aqueous drainage device insertion (2 eyes). The mean age at the first surgery was 35.14 ± 50.91 months. In 18 of 27 eyes (66.67%), the postoperative intraocular pressure (IOP) was controlled to below 21 mmHg, but 9 eyes (33.33%) showed elevated IOP and required a reoperation. CONCLUSIONS: PWS can be accompanied by ocular hypertension or glaucoma, so patients require regular ophthalmic examinations. When glaucoma occurs, it often does not respond to medication, making it difficult in some cases to control the IOP, so appropriate glaucoma surgery is necessary.
Drainage ; Glaucoma* ; Hemiplegia ; Humans ; Intellectual Disability ; Intraocular Pressure ; Medical Records ; Ocular Hypertension ; Port-Wine Stain* ; Reoperation ; Retrospective Studies ; Seizures ; Sturge-Weber Syndrome ; Trabeculectomy

PURPOSE: Leber hereditary optic neuropathy (LHON) is one of the most common hereditary optic neuropathies caused by mutations of mitochondrial DNA. Three common mitochondrial mutations causing LHON are m.3460, m.11778, and m.14484. We report a rare mutation of the mitochondrial tRNA (Leu [UUR]) gene (MT-TL1) (m.3268 A > G) in a patient with bilateral optic atrophy. CASE SUMMARY: A 59-year-old female diagnosed with glaucoma 3 years earlier at a community eye clinic presented to our neuro-ophthalmology clinic. On examination, her best corrected visual acuity was 0.4 in the right eye and 0.7 in the left eye, and optic atrophy was noticed in both eyes. Optical coherence tomography revealed retinal nerve fiber layer (RNFL) thinning in both eyes; average RNFL thickness was 52 µm in the right eye and 44 µm in the left eye, but the papillomacular bundle was relatively preserved in both eyes. Goldmann perimetry demonstrated peripheral visual field defects, mostly involving superotemporal visual field in both eyes. Mitochondrial DNA mutation test showed an unusual mutation in MT-TL1 gene seemingly related to this optic neuropathy. CONCLUSIONS: We found a rare mutation (m.3268 A > G) of the mitochondrial DNA in a patient having bilateral optic atrophy, which led to the diagnosis of LHON. There have been previous reports about mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and infantile myopathy caused by MT-TL1 mutation, but this is the first case of LHON associated with the same mutation. In this case of LHON associated with MT-TL1 mutation, atypical clinical features were observed with a relatively mild phenotype and peripheral visual field defects.
Diagnosis ; DNA, Mitochondrial ; Female ; Glaucoma* ; Humans ; MELAS Syndrome ; Middle Aged ; Muscular Diseases ; Nerve Fibers ; Optic Atrophy ; Optic Atrophy, Hereditary, Leber* ; Optic Nerve Diseases ; Phenotype ; Retinaldehyde ; RNA, Transfer ; Tomography, Optical Coherence ; Visual Acuity ; Visual Field Tests ; Visual Fields

Central serous chorioretinopathy may induce poor eyesight and serous retinal detachment. However, its exact cause has not been well established thus far. It can be associated with systemic high-dose corticosteroid treatment mainly for young and middle-aged men and may spontaneously regress or recur after withdrawal from corticosteroid. After corticosteroid administration for Behcet's disease, it is necessary to identify any ocular symptoms. Behcet's disease can lead to the development of ocular complications, such as uveitis, hypopyon, retinal vasculitis, optic neuritis, angiogenesis, secondary cataract, and glaucoma. It is possible to diagnose any of these complications via optical coherence tomography and digital indocyanine green angiography. It is easy to neglect an ocular symptom that may appear after a low-dose corticosteroid treatment as an ocular complication in patients with Behcet's disease. Thus, we report on a case concerning high-dose corticosteroid treatment with a literature review.
Angiography ; Behcet Syndrome ; Capsule Opacification ; Central Serous Chorioretinopathy* ; Glaucoma ; Humans ; Indocyanine Green ; Male ; Optic Neuritis ; Retinal Detachment ; Retinal Vasculitis ; Tomography, Optical Coherence ; Uveitis

Central serous chorioretinopathy may induce poor eyesight and serous retinal detachment. However, its exact cause has not been well established thus far. It can be associated with systemic high-dose corticosteroid treatment mainly for young and middle-aged men and may spontaneously regress or recur after withdrawal from corticosteroid. After corticosteroid administration for Behcet's disease, it is necessary to identify any ocular symptoms. Behcet's disease can lead to the development of ocular complications, such as uveitis, hypopyon, retinal vasculitis, optic neuritis, angiogenesis, secondary cataract, and glaucoma. It is possible to diagnose any of these complications via optical coherence tomography and digital indocyanine green angiography. It is easy to neglect an ocular symptom that may appear after a low-dose corticosteroid treatment as an ocular complication in patients with Behcet's disease. Thus, we report on a case concerning high-dose corticosteroid treatment with a literature review.
Angiography ; Behcet Syndrome ; Capsule Opacification ; Central Serous Chorioretinopathy ; Glaucoma ; Humans ; Indocyanine Green ; Male ; Optic Neuritis ; Retinal Detachment ; Retinal Vasculitis ; Tomography, Optical Coherence ; Uveitis

The purpose of this study was to report developmental glaucoma and pseudopapilledema in a patient with Proteus syndrome. We defined the presence of developmental glaucoma, right pseudopapilledema and myopia in a 4.5-year-old patient with Proteus syndrome. Marked right hemihypertrophy, lipoma, macrodactyly, and asymmetry of the limbs were observed on systemic examination. A cavernoma was also detected in magnetic resonance imaging of the brain. The patient underwent bilateral goniotomy surgery due to glaucoma. The surgical outcomes were satisfactory in both eyes. In conclusions developmental glaucoma and pseudopapilledema might be associated with Proteus syndrome.
Child, Preschool ; Disease Progression ; Glaucoma/diagnosis/*etiology/physiopathology ; Humans ; Intraocular Pressure/*physiology ; Magnetic Resonance Imaging/*methods ; Male ; Proteus Syndrome/*complications

Child ; Epilepsy ; drug therapy ; Fructose ; adverse effects ; analogs & derivatives ; Glaucoma ; chemically induced ; Humans ; Male ; Sturge-Weber Syndrome ; complications

PURPOSE: To report clinical manifestations including neurocutaneous and ocular findings and to evaluate outcomes of trabeculectomy in patients with Sturge-Weber syndrome. METHODS: The medical records of 10 eyes of 8 glaucoma patients with Sturge-Weber syndrome who were followed up for at least 1 year after trabeculectomy were reviewed retrospectively. We analyzed neurocutaneous and ocular findings, cumulative surgical success rates, and complications in patients with Sturge-Weber syndrome. RESULTS: The mean patient age at the time of surgery was 12.6 +/- 13.0 years and mean follow-up period was 71.6 +/- 81.8 months. All patients showed various clinical findings including facial hemangioma (8 patients), seizure (6 patients), intracranial lesion (6 patients), developmental delay (4 patients), conjunctival/episcleral hemangioma (4 eyes), and choroidal hemangioma (4 eyes). Postoperative success was achieved in 8 out of 10 eyes (80.0%). Postoperatively, serous retinal detachment occurred in 2 out of 4 eyes with preoperative diffuse choroidal hemangioma. CONCLUSIONS: Management of glaucoma associated with Sturge-Weber syndrome requires multidisciplinary treatment because of systemic involvement. Trabeculectomy appears to be an effective and relatively safe surgical option for glaucoma associated with Sturge-Weber syndrome. However, serious complications such as serous retinal detachment should be considered when planning trabeculectomy for patients with diffuse choroidal hemangioma.
Choroid ; Follow-Up Studies ; General Surgery ; Glaucoma* ; Hemangioma ; Humans ; Medical Records ; Retinal Detachment ; Retrospective Studies ; Seizures ; Sturge-Weber Syndrome* ; Trabeculectomy