PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased left visual acuity and corneal opacity. She had undergone several surgeries previously due to the presence of basosquamous carcinoma in the left lower eyelid, neurofibroma, and malignant melanoma of the facial skin. The patient showed repeated corneal surface problems, with a suspicious dendritic lesion; however, antiviral therapy was ineffective, and herpes simplex virus polymerase chain reaction results were negative. Despite regular follow-ups, the patient showed neovascularization around the corneal limbus and an irregular corneal surface. We performed corneal debridement with autologous serum eye drops for treatment. The patient's visual acuity and corneal surface improved after the procedure. The impression cytology result was corneal dysplasia. In whole exome sequencing, two pathogenic variants and one likely pathogenic variant of the POLH gene were detected. CONCLUSIONS: This is the first genetically identified xeroderma pigmentosum case with ophthalmological lesions of the eyelid and cornea in Korea. Debridement of the irregular corneal surface and autologous serum eye drop administration in xeroderma pigmentosum could be helpful for improving visual acuity.
Adult ; Carcinoma, Basosquamous ; Cornea ; Corneal Opacity ; Debridement ; Diagnosis ; Exome ; Eyelids ; Female ; Follow-Up Studies ; Humans ; Ichthyosis ; Korea ; Limbus Corneae ; Melanoma ; Neurofibroma ; Ophthalmic Solutions ; Polymerase Chain Reaction ; Simplexvirus ; Skin ; Visual Acuity ; Xeroderma Pigmentosum

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

BACKGROUND: To analyze the results of court rulings about medical litigations related to cataract surgery in Korea. METHODS: We collected 50 anonymized judgements regarding cataract surgery between 2000 and 2016 and analyzed the reasons for the medical litigations, the court rulings, the reasons for compensation, and the amount claimed and finally awarded. RESULTS: Forty-eight litigations (96%) resulted from errors in treatment, and the reasons were as follows: endophthalmitis, dissatisfaction of visual outcome or ocular discomfort, bullous keratopathy or corneal opacity, retinal detachment, glaucoma or vitreous hemorrhage due to the progression of an underlying diabetic retinopathy, and others in order. Two litigations (4%) arose due to errors in diagnosis. Among the 50 final cases, 21 litigations (42%) were decided in favor of the plaintiff, and 29 litigations (58%) were decided against the plaintiff and dismissed. Ten cases awarded damages to the plaintiffs because of a violation of duty of care, and 11 cases awarded damages due to a violation of informed consent. When comparing cases with errors in diagnosis to cases with errors in treatment, there was no significant difference in the relative risk of a defendant's verdict (P = 0.503). The total amount of awarded damages was KRW 439,124,496 (USD 399,204), and the average amount was KRW 20,910,690 (USD 19,010). CONCLUSION: Nearly half of the cases were decided in favor of the plaintiff due to the violation of informed consent. This study's results will be helpful in understanding the results of medical litigations regarding cataract surgery and reducing future lawsuits.
Anonyms and Pseudonyms ; Awards and Prizes ; Cataract* ; Compensation and Redress ; Corneal Opacity ; Diabetic Retinopathy ; Diagnosis ; Endophthalmitis ; Glaucoma ; Informed Consent ; Jurisprudence* ; Korea* ; Ophthalmology ; Retinal Detachment ; Vitreous Hemorrhage

PURPOSE: To report the first case of steroid sulfatase (STS) gene deletion, confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis in identical twins with pre-Descemet corneal dystrophy associated with X-linked ichthyosis. CASE SUMMARY: 19-year old identical twin brothers with itching senses and hereditary thick scaly skin of the extremity and trunk visited our dermatologic clinic. Upon visiting, an ophthalmologic consultation with anterior segment examination showed diffuse punctate corneal opacities in the pre-Descemet layer. On MLPA analysis of the identical twin brothers, a definitive diagnosis of X-linked ichthyosis was made by identifying STS gene deletion. CONCLUSIONS: Identification of the deletion and mutation of the involved gene using gene analysis can provide insight to diagnosis and clinical characteristics of X-linked ichthyosis.
Cornea ; Corneal Opacity ; Diagnosis ; Extremities ; Gene Deletion ; Humans ; Ichthyosis* ; Multiplex Polymerase Chain Reaction ; Pruritus ; Siblings ; Skin ; Steryl-Sulfatase ; Twins, Monozygotic

PURPOSE: To report an experience of improving symptoms through treatment with electrocauterization and subconjunctival bevacizumab injection in two patients with keratitis accompanied by corneal neovascularization and opacity. CASE SUMMARY: (Case 1) A 20-year-old woman visited our institution complaining of binocular blurred vision and congestion for the previous 3 years. Her best corrected visual acuity (BCVA) was 0.07 in the right eye and 0.4 in the left eye (Han Chun-suk visual acuity chart, decimal). The diagnosis was bilateral rosacea keratitis. Antibiotics, steroid eye drops and oral antibiotics were administered, but no improvement was observed. Electrocauterization was performed at the origin of the neovascularization of the cornea and bevacizumab was injected at the peripheral subconjunctiva in the right eye. Thereafter the corneal neovascularization did not recur, corneal opacity was reduced, and BCVA improved to 0.5. (Case 2) A 19-year-old woman visited complaining of left eye congestion for the previous 3 years. Her BCVA was 1.0 in the right eye and 0.08 in the left eye.The diagnosis was phlyctenular keratitis of the left eye. Antibiotics, steroid eye drops and oral antibiotics were administered, but no improvement was observed. Therefore, electrocauterization and subconjunctival bevacizumab injection were performed in the cornea of the left eye, after which corneal neovascularization and opacity decreased. CONCLUSIONS: In these cases, we report improvement of symptoms after treatment with electrocauterization and subconjunctival bevacizumab injection after failed treatment of palpebral sanitation, antibiotic and steroid.
Anti-Bacterial Agents ; Bevacizumab* ; Cornea ; Corneal Neovascularization* ; Corneal Opacity ; Diagnosis ; Electrocoagulation ; Estrogens, Conjugated (USP) ; Female ; Humans ; Keratitis ; Ophthalmic Solutions ; Rosacea ; Sanitation ; Telescopes ; Visual Acuity ; Young Adult

PURPOSE: To compare the survival of corneal grafts and the changes in endothelial cell density in penetrating keratoplasty using domestic or imported corneas. METHODS: Medical records of 236 eyes of 211 patients who underwent penetrating keratoplasty from November 2004 to August 2011 in Seoul National University Hospital and were followedup at least 1 year were retrospectively reviewed. After excluding the patients who received the combined surgeries with other surgeries except cataract surgery, the eyes were divided into 2 groups depending on the origin of donor tissue resulting in a domestic cornea group (108 eyes) and an imported cornea group (128 eyes). Recipient demographics, preoperative diagnosis, donor age, death-to-preservation time, death-to-operation time and pre-and postoperative visual acuities were compared between the 2 groups. Kaplan-Meier survival and changes in endothelial cell density were analyzed at 3, 6 and 12 months and then every year. RESULTS: The most common preoperative diagnoses were regraft and corneal opacity in the domestic and imported cornea groups, respectively, without statistical difference. Death-to-preservation time was 8.9 hours and 8.0 hours in the domestic and imported cornea groups, respectively, without statistical difference. However, death-to-operation time was longer in the imported cornea group (4.98 days) than in the domestic cornea group (2.18 days). There were no differences in pre- and postoperative visual acuities, decrease in annual changes in endothelial densities and survival up to 3 years between the 2 groups. In addition, the survival and decreased annual changes in endothelial densities were not different from each other in penetrating keratoplasty combined with cataract surgery or in penetrating keratoplasty for a corneal edema. CONCLUSIONS: Our study results suggest that clinical outcomes of the penetrating keratoplasty using imported corneas are comparable in efficacy when compared with the clinical outcomes using domestic corneas.
Cataract ; Cornea* ; Corneal Edema ; Corneal Opacity ; Demography ; Diagnosis ; Endothelial Cells ; Humans ; Keratoplasty, Penetrating* ; Medical Records ; Retrospective Studies ; Seoul ; Tissue Donors ; Transplants ; Visual Acuity

PURPOSE: To identify the long term clinical course of amblyopia and strabismus that developed secondary to a monocular corneal opacity following suspected epidemic keratoconjunctivitis (EKC) in infancy. METHODS: This was a retrospective study analyzing the medical records of seven patients, treated in our clinic, who were followed for more than five years. RESULTS: Four patients in our clinic underwent a corneal ulcer treatment following suspected EKC. Each developed a monocular corneal opacity. Three patients with a chief complaint of corneal opacity were transferred to our clinic from other clinics. These patients had documented histories of treatment for EKC in infancy. All patients were treated with early occlusion therapy, but amblyopia persisted in four patients. Furthermore, all patients had strabismus and showed a significant reduction of stereoscopic vision. CONCLUSIONS: Although infants with EKC are not always cooperative, slit lamp examination should be performed as early as possible, and appropriate medical treatment should be performed, thus reducing the development of corneal opacity. Careful follow up should be regularly performed, and the occurrence of amblyopia or strabismus should be verified at an early stage using visual acuity or ocular alignment examination. Ophthalmologic treatments, including active occlusion therapy, should also be pursued.
Adenoviridae Infections/*complications/diagnosis/epidemiology ; Amblyopia/*etiology/pathology/physiopathology ; Child ; Child, Preschool ; Corneal Opacity/*complications/pathology ; Disease Progression ; *Epidemics ; Eye Infections, Viral/*complications/diagnosis/epidemiology ; Female ; Follow-Up Studies ; Humans ; Infant ; Keratoconjunctivitis/*complications/diagnosis/epidemiology ; Male ; Prognosis ; Refraction, Ocular ; Republic of Korea/epidemiology ; Retrospective Studies ; Risk Factors ; Strabismus/*etiology/pathology/physiopathology ; Vision, Binocular ; Visual Acuity

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula. It is essential to examine the fundus in detail, if possible, in cases of Peters' anomaly, because these patients may have congenital anomalies such as chorioretinal coloboma.
*Abnormalities, Multiple ; Adolescent ; Anterior Eye Segment/abnormalities ; Choroid/*abnormalities ; Coloboma/*diagnosis ; Corneal Opacity/*diagnosis ; Diagnosis, Differential ; Eye Abnormalities/*diagnosis ; Humans ; Male ; Microscopy, Acoustic ; Optic Nerve/abnormalities ; Retina/*abnormalities

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula. It is essential to examine the fundus in detail, if possible, in cases of Peters' anomaly, because these patients may have congenital anomalies such as chorioretinal coloboma.
*Abnormalities, Multiple ; Adolescent ; Anterior Eye Segment/abnormalities ; Choroid/*abnormalities ; Coloboma/*diagnosis ; Corneal Opacity/*diagnosis ; Diagnosis, Differential ; Eye Abnormalities/*diagnosis ; Humans ; Male ; Microscopy, Acoustic ; Optic Nerve/abnormalities ; Retina/*abnormalities

PURPOSE: To report 8 cases of Noninfectious early anterior chamber reaction after penetrating keratoplasty (PKP), and to review relevant literature. METHODS: Retrospectively, we reviewed medical records of 8 patients who had undergo PKP from March 2001 to May 2004, associated with early severe chamber reaction. RESULTS: Preoperative diagnosis are corneal opacity (4 cases), keratoconus (2 cases), corneal ectasia after LASIK (1 case) and graft failure (1 case). Although they didn't show severe chamber reaction at first day after surgery, the anterior chamber reaction with cornea edema and decreased visual acuity had increased with time. We didn't give the additional treatment except increasing the number of instillation of topical steroid. The inflammation was improved within a week and the complete resolution was achieved during the follow-up in all cases. In all cases posterior synechia and anterior subcapsular opacity were found. CONCLUSIONS: It seems reasonable to conclude that a single common etiologic factor could not responsible for this syndrome. Non-infectious inflammation developing upon PKP may be caused by a multifactorial process like increased IOP, toxic anterior segment syndrome form surgical trauma or hypersensitivity reaction et al and viscoelastics effect.
Anterior Chamber ; Cornea ; Corneal Opacity ; Diagnosis ; Dilatation, Pathologic ; Edema ; Follow-Up Studies ; Humans ; Hypersensitivity ; Inflammation ; Keratoconus ; Keratomileusis, Laser In Situ ; Keratoplasty, Penetrating* ; Medical Records ; Retrospective Studies ; Transplants ; Visual Acuity