Aniridia or irideremia is characterized by reduction of iris or absence of total iris, but a rudimentary iris is always present in most cases. This congenital anomaly is familial and the transmission is strongly dominant by an autosomal gene. It demonstrates high penetrance and variable expression. Aniridia is mainly due to a primary defect in development of the neural ectoderm and an aberrant development of the mesoderm. Glaucoma and cataract in the eye is frequently complicated with other deformities of the body and the treatment is not satisfactory. The author have experienced a case of aniridic family which is composed of 7 persons. Of these, the father, one son and 3 daughters are affected with aniridia, cataract, nystagmus and amblyopia and the mother and one son are healthy. The author reports this cases with the review of literature.
Amblyopia ; Aniridia* ; Cataract ; Congenital Abnormalities ; Ectoderm ; Fathers ; Glaucoma ; Humans ; Iris ; Mesoderm ; Mothers ; Nuclear Family ; Penetrance

Persistent pupillary membranes are common congenital disorders. To reduce the surgical complications, we used vitreous scissors instead of conventionally used Vannas scissors to remove the membrane and reviewed the surgical results. Five eyes of 4 children with persistent pupillary membrane were treated by surgery. Through the 1.5 mm limbal incision, the membrane was removed by using vitreous scissors after intracameral sodium hyaluronate. After 22.6 months follow-up, all pupils of operated eyes were round and no complications associated with the surgery were found. Three eyes showed improved visual acuities after the operation. We suggest that the surgery with vitreous scissors is better than with Vannas scissors.
Anterior Chamber ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Hyaluronic Acid/administration & dosage ; Infant ; Injections ; Iris/*abnormalities ; Iris Diseases/*congenital/*surgery ; Male ; Pupil ; Surgical Instruments ; Treatment Outcome

The contusive anterior chamber angle deformities after traumatic hyphema probably were related to the late onset of glaucoma but have been overlooked easily. Authors analysed clinically the angle deformities of 53 patients with traumatic hyphema at the Department of Ophthalmology, Pusan National University from May 1983 to April 1986 by gonioscopic findings. The results were as follows: 1. Male to female ratio of 53 patients was 7.8:1, The average age was 23.7 years. 2. The traumatic hyphema was caused by missile injuries(58.5%) and blunt traumas(41.5%). 3. Of the 53 patients with traumatic hyphema, 42(79.2%) patients had angle recession and 9 patients had normal angle. 4. The degree of angle recession consisted of Grade I, 19.0%(8 cases), Grade II, 38.1%(16 cases), and Grade III, 42.9%(18 cases). The circumferential extent of angle recession increased proportionally with the degree of angle recession. 5. The circumferential extent of angle recession in the range of 271 degrees ~ 360 degrees was 57.1%, 181 degrees ~ 270 degrees was 23.8%, 91 degrees ~ 180 degrees was 11.9% and under 90 degrees was 7.1% of the patients. 6. There was no significant correlation between the amount of hyphema and the extent and degree of angle recession. 7. The distribution of angle recession was noted 42 cases in superonasal quadrant, 34 cases in superotemporal quadrant, 29 cases in inferotemporal quadrant and 23 cases in infercnasal quadrant and was not correlative to the amount of hyphema. 8. Of the 42 patients with angle recession, 35 patients developed peripheral anterior synechiae, its average extent was under 50 degrees, mostly being at the lower half of anterior chamber angle. 9. The relationship between the intraocular pressure and the degree of angle recession was not significant. 10. Associated ocular abnormalities other than angle abnormalities were iris damage(32.1%), chorioretinal damage(17.0%) and lens damage(7.5%). 11. The chorioretinal damage was the major cause of decreased visual acuity. 12. The chronic simple glaucoma was developed in 2(4.8%) of 42 patients with angle recession.
Anterior Chamber* ; Busan ; Congenital Abnormalities* ; Female ; Glaucoma ; Glaucoma, Open-Angle ; Humans ; Hyphema* ; Intraocular Pressure ; Iris ; Male ; Ophthalmology ; Visual Acuity

The contusive anterior chamber angle deformities after traumatic hyphema probably were related to the late onset of glaucoma but have been overlooked easily. Authors analysed clinically the angle deformities of 53 patients with traumatic hyphema at the Department of Ophthalmology, Pusan National University from May 1983 to April 1986 by gonioscopic findings. The results were as follows: 1. Male to female ratio of 53 patients was 7.8:1, The average age was 23.7 years. 2. The traumatic hyphema was caused by missile injuries(58.5%) and blunt traumas(41.5%). 3. Of the 53 patients with traumatic hyphema, 42(79.2%) patients had angle recession and 9 patients had normal angle. 4. The degree of angle recession consisted of Grade I, 19.0%(8 cases), Grade II, 38.1%(16 cases), and Grade III, 42.9%(18 cases). The circumferential extent of angle recession increased proportionally with the degree of angle recession. 5. The circumferential extent of angle recession in the range of 271 degrees ~ 360 degrees was 57.1%, 181 degrees ~ 270 degrees was 23.8%, 91 degrees ~ 180 degrees was 11.9% and under 90 degrees was 7.1% of the patients. 6. There was no significant correlation between the amount of hyphema and the extent and degree of angle recession. 7. The distribution of angle recession was noted 42 cases in superonasal quadrant, 34 cases in superotemporal quadrant, 29 cases in inferotemporal quadrant and 23 cases in infercnasal quadrant and was not correlative to the amount of hyphema. 8. Of the 42 patients with angle recession, 35 patients developed peripheral anterior synechiae, its average extent was under 50 degrees, mostly being at the lower half of anterior chamber angle. 9. The relationship between the intraocular pressure and the degree of angle recession was not significant. 10. Associated ocular abnormalities other than angle abnormalities were iris damage(32.1%), chorioretinal damage(17.0%) and lens damage(7.5%). 11. The chorioretinal damage was the major cause of decreased visual acuity. 12. The chronic simple glaucoma was developed in 2(4.8%) of 42 patients with angle recession.
Anterior Chamber* ; Busan ; Congenital Abnormalities* ; Female ; Glaucoma ; Glaucoma, Open-Angle ; Humans ; Hyphema* ; Intraocular Pressure ; Iris ; Male ; Ophthalmology ; Visual Acuity

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.
Animals ; Anus, Imperforate ; Cats* ; Chromosomes, Human, Pair 22* ; Coloboma ; Congenital Abnormalities ; Female ; Fetus ; Genetic Markers ; Heart ; Humans ; Iris ; Multiplex Polymerase Chain Reaction* ; Prenatal Diagnosis*

PURPOSE: The aim of this study was to assess the involvement of several organs patients with Marfan syndrome in Korea. Also the clinical features in childhood patients with Marfan syndrome were assessed. METHODS: Thirty-eight cases of Marfan syndrome were enrolled in this study. Clinical evaluations of the musculoskeletal, cardiovascular and occular system were performed in all cases. RESULTS: The musculoskeletal system was involved in 32 cases (84.2%) and occular system in 24 cases (63.1%). Cardiovascular abnormalities were found in 19 cases (50.0%) at initial evaluation. Family history was involved in 21 cases (55.2%). Ectopia lentis was found in 17 cases (70.8%). Severe myopia and iris abnormalities were also present in 14 cases (58.2%). The ascending aorta was dilated in 13 cases (34.2%). Emergency operation was performed in 3 cases (7.9%) because of a dissecting aorta. Mitral regurgitation and prolapse were found in 29 cases (76.4%) and other valve insufficiency was accompainied in 5 cases (13.1%). Of the 38 cases, 29 patients (79.3%) were less than 15 years of age and their major manifestations were occular problems in 23 cases (79.3%), and family history in 17 cases (58.6%). In one infant, severe heart failure was the predominant clinical feature. CONCLUSION: The clinical features of Korean patients with Marfan syndrome were summarized in this report. Heart failure was the main manifestaton in infantile Marfan syndrome. Early treatment with beta-blocker and valvular replacement can prevent fatality, i.e. aortic dissection, in this disease, concern and management should be advocated in the early detection of Marfan syndrome.
Aorta ; Cardiovascular Abnormalities ; Ectopia Lentis ; Emergencies ; Heart Failure ; Humans ; Infant ; Iris ; Korea ; Marfan Syndrome* ; Mitral Valve Insufficiency ; Musculoskeletal System ; Myopia ; Prolapse

PURPOSE: To report a case of bilateral peripheral ulcerative keratitis after cataract extraction with a clear corneal incision in a patient with rheumatoid arthritis. CASE SUMMARY: A 67-year-old woman was referred to our clinic with bilateral ocular pain and visual disturbances, 10 days after a cataract extraction in her right eye. The patient had undergone a cataract extraction with clear corneal incision in the left eye and the same procedure was performed in the right eye after 1 week. During the surgery, hyphema occurred because of the iris damage by the phacoemulsification tip. Slit lamp examination showed bilateral peripheral ulcerative keratitis around the incision site and diffused corneal edema. Topical instillation and systemic administration of antibiotic agents were given as treatment but the patient showed no improvement. Corneal culture and smear were performed and showed a negative result. Because the patient was previously diagnosed with rheumatoid arthritis and showed the characteristic finger deformity, she was diagnosed with a sterile peripheral ulcerative keratitis and was treated with oral steroid, sulfasalazine, and steroid eye drop. After 1 month of treatment, epithelial thinning of the cornea and peripheral corneal ulcer stopped progressing and showed corneal re-epithelization. CONCLUSIONS: Because peripheral ulcerative keratitis after cataract extraction with clear corneal incision can occur in a patient with rheumatoid arthritis, caution is necessary to minimize damage by careful manipulation during the operation and requires special attention in preoperative and postoperative management.
Arthritis, Rheumatoid ; Cataract ; Cataract Extraction ; Congenital Abnormalities ; Cornea ; Corneal Edema ; Corneal Ulcer ; Eye ; Female ; Fingers ; Humans ; Hyphema ; Iris ; Phacoemulsification ; Sulfasalazine ; Ulcer

PURPOSE: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndromes characterized by unilateral scalp and facial lesions and multiple anomalies involving the eye and central nervous system. To our knowledge, this is the first case reported in Korea. METHODS: A 19-month-old girl was referred to our clinic for evaluation of right-sided multiple facial masses and ocular disorders. RESULTS: Physical examination showed large lipomatous masses on the scalp with overlying alopecia. There were also multiple skin tags in the right periocular area and defects of the right lid margin and lateral canthus. Other ocular anomalies included epibulbar lipodermoid, corneal opacity, iris coloboma and localized hypopigmentation of the retinal pigment epithelium. Brain MRI demonstrated multiple abnormalities that were consistent with lipomas and leptomeningeal angiomatosis. We removed the scalp lipoma and the epibulbar lipodermoid and reconstructed the lateral canthus. CONCLUSIONS: In the case of suspected ECCL, it is essential to differentiate from other syndromes which present with epibulbar choristoma. Neuroimaging such as CT or MRI and pathologic study may be helpful.
Abnormalities, Multiple ; Alopecia ; Angiomatosis ; Brain ; Central Nervous System ; Choristoma ; Coloboma ; Corneal Opacity ; Female ; Humans ; Hypopigmentation ; Infant ; Iris ; Korea ; Lipoma ; Lipomatosis* ; Magnetic Resonance Imaging ; Neurocutaneous Syndromes ; Neuroimaging ; Physical Examination ; Retinal Pigment Epithelium ; Scalp ; Skin