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

PURPOSE: We report 3 cases of patients with retinal hemorrhage among 27 newborns with intrauterine growth retardation. CASE SUMMARY: Twenty-seven newborns with intrauterine growth retardation were examined using the indirect ophthalmoscope for confirming retinal hemorrhage which was observed in 3 patients. The mean gestational age and birth weight (g) of the 3 patients were 37⁺⁶ weeks and 2,086.7 g, respectively. Among the 3 newborns, 1 patient's mother had oligohydramnios. Two patients were delivered vaginally and 1 by cesarean section. All 3 patients had no birth trauma and the retinal hemorrhage was resolved within 2 weeks after the first eye examination. CONCLUSIONS: We observed 3 cases with retinal hemorrhage in neonates with intrauterine growth retardation which improved within 2 weeks.
Birth Weight ; Cesarean Section ; Female ; Fetal Growth Retardation ; Gestational Age ; Humans ; Incidence* ; Infant, Newborn* ; Korea* ; Mothers ; Oligohydramnios ; Ophthalmoscopes ; Parturition ; Pregnancy ; Retinal Hemorrhage* ; Retinaldehyde*

PURPOSE: To report a case of choroidal metastasis caused by lung cancer in a young female who had no history. CASE SUMMARY: A 31-year-old female presented with decreased vision for 1 week. Fundus examination revealed an orange colored choroidal tumor and serous retinal detachment at superotemporal area of the optic disc on the left eye. On chest X-ray, atypical pneumonia or hematogenous metastasis was shown. Additionally, mammography, chest-abdomen computed tomography, lumbar magnetic resonance imaging, and transbronchial lung biopsy were performed and the patient was finally diagnosed with adenocarcinoma. The patient started systemic chemotherapy and visual acuity improved after 1 month. Tumor size and subretinal fluid also decreased. The tumor disappeared 2 months later and there was no recurrence. CONCLUSIONS: There are only few cases in which choroidal metastasis was observed in a young female patient with no history who had decreased visual acuity and was later diagnosed with lung cancer. Authors report this case because a satisfactory result was obtained from chemotherapy alone.
Adenocarcinoma ; Adult ; Biopsy ; Choroid* ; Citrus sinensis ; Drug Therapy ; Female ; Humans ; Lung Neoplasms* ; Lung* ; Magnetic Resonance Imaging ; Mammography ; Neoplasm Metastasis* ; Pneumonia ; Recurrence ; Retinal Detachment ; Subretinal Fluid ; Thorax ; Visual Acuity

PURPOSE: In the present study, 2 cases of serous retinal detachment in patients diagnosed with proliferative diabetic retinopathy after pars plana vitrectomy are reported. CASE SUMMARY: (Case 1) A 38-year-old female diagnosed with high-risk proliferative diabetic retinopathy underwent pars plana vitrectomy and cataract surgery due to intravitreal hemorrhage. One day after the operation, fundus photograph and optical coherence tomography (OCT) revealed serous retinal detachment. After ensuring that no retinal hole was present based on fundus examination, the patient was diagnosed with serous retinal detachment and antimicrobial and steroid eye drops were applied. After 1 week, subretinal fluid disappeared. (Case 2) A 63-year-old male diagnosed with proliferative diabetic retinopathy underwent pars plana vitrectomy due to right vitreous hemorrhage. On postoperative day 1, focal subretinal fluid under the macula was observed using OCT. Intravitreal triamcinolone injection was performed during surgery and steroid eye drops were applied. Subretinal fluid collection was absorbed 5 days postoperatively. CONCLUSIONS: Two cases of serous retinal detachment that occurred postoperatively in patients with diabetic retinopathy are reported. Serous retinal detachment was resolved after several days without specific management.
Adult ; Cataract ; Diabetic Retinopathy* ; Female ; Hemorrhage ; Humans ; Male ; Middle Aged ; Ophthalmic Solutions ; Retinal Detachment* ; Retinal Perforations ; Retinaldehyde* ; Subretinal Fluid ; Tomography, Optical Coherence ; Triamcinolone ; Vitrectomy* ; Vitreous Hemorrhage

PURPOSE: To report a case of retinal hemorrhage after a dexamethasone (Ozurdex®, Allergan, Irvine, CA, USA) intravitreal implant injection in macular edema (ME) secondary to central retinal vein occlusion (CRVO). CASE SUMMARY: A 60-year-old woman visited our hospital for ME secondary to CRVO in the right eye. Intravitreal bevacizumab injection and vitrectomy was conducted three times, but ME did not improve. Then, dexamethasone intravitreal implant was injected without any problems. Right after the dexamethasone intravitreal implant injection, retinal hemorrhage (2 disc diopter size) was observed in the infero-temporal area on fundus examination. Retinal hemorrhage completely disappeared 1 month after injection without other treatment. CONCLUSIONS: A case of dexamethasone intravitreal implant associated with retinal hemorrhage has not been previously reported in Korea. Althrough retinal hemorrhage was observed, it resolved spontaneously without treatment.
Bevacizumab ; Dexamethasone* ; Female ; Humans ; Korea ; Macular Edema ; Middle Aged ; Retinal Hemorrhage* ; Retinal Vein ; Retinaldehyde* ; Vitrectomy

PURPOSE: In the present study, a case of diffuse lamellar keratitis after trabeculectomy in a patient who had received laser in situ keratomileusis many years prior is reported. CASE SUMMARY: A 54-year-old male diagnosed with binocular primary open-angle glaucoma underwent trabeculectomy in the left eye because of poor intraocular pressure control and visual field defect progression even with maximal medical treatments. Faint, non-progressing subepithelial opacities pre-existed in the left cornea but no treatment was administered. The patient had a history of laser in situ keratomileusis in both eyes 12 years prior. On the first postoperative day, conjunctival buttonhole was found and because leaking from the hole continued, topical steroid was discontinued on the fourth postoperative day. On the seventh postoperative day, diffuse lamellar keratitis developed on the central cornea without intraocular pressure elevation, and diffuse infiltration under the corneal flap was observed in the anterior segment on optical coherence tomography. The patient was treated with topical steroid eye drops every 3 hours for the first 2 days and the frequency was increased to every hour because the keratitis did not improve. On the ninth postoperative day, keratitis began to improve and 2 months postoperatively, subepithelial lamellar infiltration improved significantly but did not show complete remission. CONCLUSIONS: Diffuse lamellar keratitis can develop in an eye with laser in situ keratomileusis after trabeculectomy if appropriate treatment with topical steroid eye drops is not administered.
Cornea ; Glaucoma, Open-Angle ; Humans ; Intraocular Pressure ; Keratitis* ; Keratomileusis, Laser In Situ* ; Male ; Middle Aged ; Ophthalmic Solutions ; Telescopes ; Tomography, Optical Coherence ; Trabeculectomy* ; Visual Fields

PURPOSE: To report a rare case of upper eyelid schwannoma presenting as a chalazion. CASE SUMMARY: A 54-year-old male presented to our clinic with a slowly growing, painless recurred mass located in the middle area of the right upper eyelid margin. Surgical incision had been performed on a similar mass two year previous, although no histological analysis had been performed. On examination, a 4 × 3-mm-sized, firm, nonpigmented mass was palpable in the right upper eyelid, and no signs of neurofibromatosis were present elsewhere. The lesion was initially thought to be an eyelid mass, so we performed an excisional biopsy under local anesthesia. The lesion was easily isolated from the surrounding tissue and was excised completely. Histopathologically, the excised mass showed a compact arrangement of spindle cells forming palisades with Verocay bodies (Antoni A patterns). Immunohistochemistry revealed diffuse and strong S-100 protein positivity. These findings resulted in the diagnosis of eyelid schwannoma. CONCLUSIONS: Because of its rarity and solitary feature, eyelid schwannoma can be confused with chalazion. Thus, ophthalmologists should consider schwannoma in the differential diagnosis of a slowly growing, painless recurred mass or a lesion with malignant transformation after incomplete excision.
Anesthesia, Local ; Biopsy ; Chalazion ; Diagnosis ; Diagnosis, Differential ; Eyelids* ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Neurilemmoma* ; Neurofibromatoses ; S100 Proteins

PURPOSE: Choristomas represent congenital overgrowth of normal tissues in an abnormal location. The simultaneous presence of epibulbar choristoma and microphthalmos has rarely been reported. The authors report a case of extensive epibulbar choristoma associated with microphthalmos. CASE SUMMARY: A 9-day-old boy with the left eyeball absent from birth was referred to our clinic. A large cornea-like structure covered by keratinized membrane was observed inside the eyelid aperture, therefore buphthalmos or corneal staphyloma with microphthalmos was presumed. At the age of 2 months, a large mass of central conjunctival sac protruded through the left eyelid aperture. Manual reduction could not return the tissue to its original site and the mass immediately protruded again. At the age of 9 months, orbital magnetic resonance imaging showed the small presumed ocular tissue behind the large mass of fat signal in the central anterior orbit, therefore, extensive epibulbar choristoma associated with microphthalmos was diagnosed. At 12 months of age, partial excision of the protruding portion of the mass was performed. Based on pathologic examination, the mass was determined to be a choristoma and cosmetically acceptable appearance with prosthesis was maintained for 10 months after the surgery. CONCLUSIONS: Because there is no vision in extensive choristoma associated with microphthalmos, the treatment goal is cosmetic improvement. Conjunctivoplasty following partial mass excision for prosthesis wearing is a good treatment option.
Choristoma* ; Eyelids ; Humans ; Hydrophthalmos ; Lacrimal Apparatus ; Magnetic Resonance Imaging ; Male ; Membranes ; Microphthalmos* ; Orbit ; Parturition ; Prostheses and Implants

PURPOSE: In the present study, we evaluated the validity of intravenous neostigmine administration combined with alternate prism cover test (APCT) measurement as a confirmatory diagnostic method for confusing cases of myasthenia gravis with ocular involvement. METHODS: Neostigmine was administered intravenously in 26 suspicious myasthenic diplopia patients under electrocardiographic monitoring. Distance deviation at primary position was evaluated with APCT at 5, 10, 15, 20, and 30 minutes after intravenous injection of neostigmine. Margin reflex distance was also evaluated at each time point. RESULTS: Seven of 26 patients were diagnosed as myasthenic diplopia based on a positive neostigmine test. Among these patients, 6 had strabismus at the primary position and 5 patients had ptosis. In patients who showed positive results, all 6 patients showed improvement of strabismus. However, ptosis was not improved in 1 patient. The improvement of strabismus and ptosis reached a peak at 10 to 15 minutes after neostigmine administration. CONCLUSIONS: Intravenous neostigmine administration combined with APCT is a rapid, objective and safe method in hard-to-diagnose cases of myasthenia gravis with ocular involvement. When performing the neostigmine test for myasthenia gravis with ocular involvement, not only the lid position but also strabismus should be evaluated quantitatively to avoid a false negative results.
Diagnosis* ; Diplopia ; Electrocardiography ; Humans ; Injections, Intravenous ; Methods ; Myasthenia Gravis* ; Neostigmine* ; Reflex ; Strabismus

PURPOSE: To investigate the effects of tetrahydrozoline (THZ) on the survival of cultured human trabecular meshwork cells (HTMC) and the permeability of HTMC monolayer. METHODS: Primary cultured HTMC were exposed to an adrenergic agonist (0.01, 0.1, 1.0 or 10 µM THZ) for 1 day and 3 days. Carboxyfluorescein permeability through the HTMC monolayer was measured using Transwell. Cellular viability and nitric oxide (NO) production were assessed using MTT and Griess assays, respectively. RESULTS: THZ did not affect the cellular survival (p > 0.05) or NO production (p > 0.05). THZ significantly increased the carboxyfluorescein permeability through the HTMC monolayer in a dose-dependent manner compared with non-exposed control (p < 0.05) after exposure for 1 and 3 days. CONCLUSIONS: THZ does not affect the survival of HTMC but decreases the permeability of HTMC monolayer in a dose-dependent manner. Thus, THZ may possibly decrease trabecular outflow.
Adrenergic Agonists ; Humans ; Nitric Oxide ; Permeability* ; Trabecular Meshwork*