Objectives: We presented a case of bilateral iridocorneal endothelial (ICE) syndrome with secondary glaucoma and discussed its clinical presentation and management. Study design: This is a case report. Results: A 12-year old female consulted for a one-year history of progressive blurring of vision in both eyes associated with abnormal pupils and occasional eye pain. Polycoria, shallow anterior chambers, increased intraocular pressures (IOP), areas of closed angles on gonioscopy, and increased cup-to-disc ratio in both eyes indicative of ICE syndrome were present. Management included anti-glaucoma medications and implantation of glaucoma drainage devices (GDD). Conclusion Early detection with regular follow-ups leading to prompt management of the ICE syndrome are necessary. IOP control may be challenging due to the nature of the disease and may require multiple surgeries including GDD implantation to achieve successful outcomes. Early use of GDD may be beneficial for pediatric patients with ICE and glaucoma, and may require additional surgeries to adequately manage the IOP.
Iridocorneal Endothelial Syndrome

Chromosome Deletion ; Humans ; Kidney Neoplasms ; WAGR Syndrome/genetics* ; Wilms Tumor

OBJECTIVE: To identify mutation of the PAX6 gene in a patient with congenital aniridia. METHODS: DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing. RESULTS: The proband was found to harbor a heterozygous c.239T>A (p.Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls. CONCLUSION A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.
Aniridia ; genetics ; Base Sequence ; Humans ; Mutation ; PAX6 Transcription Factor ; genetics ; Pedigree

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.
Alopecia ; Aniridia ; Chromosome Aberrations ; Coccyx ; Cytogenetic Analysis ; Extremities ; Female ; Humans ; Hypopigmentation ; Infant ; Karyotype ; Mosaicism ; Neurocutaneous Syndromes ; Pigmentation Disorders ; Scalp ; Syndactyly ; Tooth

PURPOSE: To report a case of iridocorneal endothelial syndrome, which overlapped with some of the features of posterior polymorphous corneal dystrophy. CASE SUMMARY: A 61-year-old female presented with tearing pain and blurred vision in her left eye, which was aggravated in the morning. The symptom started approximately 1 year prior to her visit. At the initial visit, the visual acuities were 1.0 in both eyes and the intraocular pressures were normal. On slit-lamp examination, a single pair of horizontal parallel lines was observed at the central corneal endothelial layer in the right eye. In contrast, multiple pairs of oblique parallel lines were observed in the left eye. The lines of the lesions were more prominent and wavier in the left eye than those of the right eye. The overlying cornea was clear, and the corneal thicknesses were in the normal range in both eyes. Using a gonioscopic examination, localized peripheral anterior synechiae were observed only in the left eye. The pupil and iris were normal in both eyes. On specular microscopic examination, the corneal endothelial cell size in the right eye increased and the corneal endothelial density decreased to 668 cells/mm². In the left eye, multiple abnormal endothelial cells with dark-light reversal were observed. In conclusion, the patient was subsequently diagnosed with iridocorneal syndrome, rather than posterior polymorphous corneal dystrophy. CONCLUSIONS: Posterior polymorphous corneal dystrophy and iridocorneal endothelial syndrome may present with many similarities. Therefore, in cases of uncertain diagnosis, an understanding of the clinical features is important for proper diagnosis.
Cornea ; Diagnosis ; Endothelial Cells ; Female ; Humans ; Intraocular Pressure ; Iridocorneal Endothelial Syndrome ; Iris ; Middle Aged ; Pupil ; Reference Values ; Tears ; Visual Acuity

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.
Aniridia ; Comparative Genomic Hybridization ; Cytogenetics ; Drug Therapy ; Gene Deletion ; Humans ; Intellectual Disability ; Ultrasonography ; Urogenital Abnormalities ; WAGR Syndrome* ; Wilms Tumor*

PURPOSE: We report an unusual case of presumptive diagnosis of herpes-induced anterior uveitis with acute hypopyon after trauma. CASE SUMMARY: A 82-year-old male was diagnosed with herpes keratitis due to dendritic keratitis in the left eye, and the lesion disappeared after antiviral treatment. However, 1 year later, the patient visited again with visual loss, pain, and tearing of the left eye after trauma. At the examination, best-corrected visual acuity was counting fingers and the intraocular pressure was 27 mmHg in the left eye. Slit-lamp examination revealed corneal epithelial erosion, moderate corneal edema, and prominent inflammation with 2 mm high hypopyon in the anterior chamber. We thought that bacterial endophthalmitis had rapidly progressed after trauma, so we performed bacterial cultures and an intravitreal antibiotics injection. Considering the clinical manifestations of lesions and herpes keratitis in the past, we could not exclude herpes virus infection. Cultures were negative and the symptoms improved, so the antiviral treatment was gradually reduced and stopped at 2 months. However, recurrence was observed on day 5 after stopping antiviral therapy. We therefore assumed that recurrent herpes virus caused anterior uveitis, and then, antiviral and steroid therapy was resumed. The patient subsequently showed improvement in his symptoms and recovered his visual acuity. CONCLUSIONS: When acute hypopyon is observed in the anterior chamber after trauma, not only bacterial iritis and endophthalmitis but also viral-induced anterior uveitis should be considered in the differential diagnosis.
Aged, 80 and over ; Anterior Chamber ; Anti-Bacterial Agents ; Corneal Edema ; Diagnosis ; Diagnosis, Differential ; Endophthalmitis ; Fingers ; Humans ; Inflammation ; Intraocular Pressure ; Iritis ; Keratitis ; Keratitis, Dendritic ; Male ; Recurrence ; Simplexvirus ; Tears ; Uveitis, Anterior ; 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: We report a rare case of isolated traumatic aniridia in a pseudophakic eye. CASE SUMMARY: A 69-year-old female came to our emergency department complaining of right eye pain and visual disturbance after trauma due to fall on the stairs. Five years earlier she had undergone an uncomplicated right sutureless phacoemulsification cataract extraction through a 2.2 mm temporal clear corneal incision, followed by insertion of a folding intracapsular intraocular lens. Total iris expulsion occurred through the cataract incision without extension of the wound or disruption of the posterior capsule or intraocular lens. CONCLUSIONS: We report a rare case of isolated traumatic aniridia in a pseudophakic eye, which has not been reported in the Republic of Korea.
Aged ; Aniridia ; Cataract ; Cataract Extraction ; Emergency Service, Hospital ; Eye Pain ; Female ; Humans ; Iris ; Lenses, Intraocular ; Phacoemulsification ; Republic of Korea ; Wounds and Injuries

PURPOSE: We report a case of spontaneous recovery of an iris cyst with only tuberculosis medication and conservative eye drops when uveitis and angle closure occurred because of a cyst in a patient with peritoneal tuberculosis. CASE SUMMARY: A 49-year-old female who was diagnosed with iritis and treated with steroid eye drops visited our clinic because of decreased visual acuity 1 month prior. There were anterior chamber inflammation cells and an iris cyst completely obstructing the anterior chamber at 12 o'clock. At the time, the patient had been diagnosed with peritoneal tuberculosis in the Department of Internal Medicine and Gynecology and had been treated with surgery and medication. The patient had no past history of glaucoma, but when the iris cyst developed, the intraocular pressure increased to 29 mmHg and anterior inflammatory cells were seen in the range of +1 to +2. The primary lesion of tuberculosis improved and the iris cyst disappeared with treatments involving medication for tuberculosis, steroid eye drops, and glaucoma eye drops, without invasive treatments such as alcohol curettage, laser treatment, or cyst resection. CONCLUSIONS: If an iris cyst is a new lesion of the eye, it is necessary to identify the pattern and cause of the iris cyst first, and if a secondary benign iris cyst is suspected, the primary treatment of the causative disease is necessary rather than prompt invasive treatment.
Anterior Chamber ; Curettage ; Female ; Glaucoma ; Gynecology ; Humans ; Inflammation ; Internal Medicine ; Intraocular Pressure ; Iris ; Iritis ; Middle Aged ; Ophthalmic Solutions ; Peritonitis, Tuberculous ; Tuberculosis ; Uveitis ; Visual Acuity