No abstract available.
Child ; Cornea/*abnormalities ; Cysts/*diagnosis ; Eye Abnormalities/*diagnosis ; Eye Diseases/*diagnosis ; Female ; Humans ; Visual Acuity/physiology ; Vitreous Body/*pathology

We have experienced a case of congenital deformity of the eye, which was unilateral, combined with cleft lip and palate. Oblique facial cleft is the most uncomnon facial cleft. The cleft follows an oblique line extending from the upper lip, lateral to the philtrum and nostril, toward the eye. The coloboma of the lower lid and enlarged bifid of the cornea were formed by part of a deep groove dong the lateral aspect of the nose, together with the presence of the cleft lip and palate. In the present case, the malformation may have resulted from abnormalities in the germ cells themselves or from amniotic abnormal pressure, or from the formation of amniotic bands or adhesions.
Amniotic Band Syndrome ; Cleft Lip* ; Coloboma ; Congenital Abnormalities* ; Cornea ; Germ Cells ; Infant, Newborn ; Lip ; Nose ; Palate*

PURPOSE: To report a case of alkali burn treated successfully with early surgical intervention including amniotic membrane graft and forniceal reconstructionand the restored visual acuity. CASE SUMMARY: A 23-year-old woman was referred for alkali burn of her right eye after being splashed with a drop of 40% sodium hydroxide. Slit-lamp microscopic examination showed the patient's cornea was edematous, and hazy and limbal ischemia involved half of the cornea, which can supposedly lead to eyelid deformity and symblepharon. Debridement of all necrotic tissues, immediate amniotic membrane permanent graft and transient forniceal covering with amniotic membrane were conducted a day after the burn. Corneal and conjunctival epithelial defects were completely healed in five weeks, and visual acuity was restored to 20/20 in eight weeks. Additional surgeries for allogenic limbal transplantation and autologous oral mucosal graft were performed to resolve symblepharon.
Alkalies ; Amnion ; Burns ; Congenital Abnormalities ; Cornea ; Debridement ; Eye ; Eyelids ; Female ; Humans ; Hydroxides ; Ischemia ; Sodium Hydroxide ; Transplants ; Visual Acuity ; Young Adult

We report a rare case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome. A 25-year-old female who had suffered from poor vision in her left eye since early childhood and high myopia in her right eye (-11 D) visited our clinic because of a sudden deterioration of vision. Examination of the anterior segment showed microcornea with coloboma of the inferior pupil margin in the left iris. Fundus examination of the left eye revealed an inferior choroidal coloboma extending from the optic disc and macula. The patient also had total bullous retinal detachment. Pars plana vitrectomy with silicone oil tamponade was performed, and the retina was reattached. In the very rare condition of colobomatous macropthalmos with microcornea, retinal detachment may develop. Pars plana vitrectomy with additional silicone oil tamponade may be performed to treat this condition.
Adult ; Choroid/*abnormalities ; Coloboma/*complications/diagnosis ; Cornea/*abnormalities ; Female ; Follow-Up Studies ; Humans ; Retinal Detachment/diagnosis/*etiology/surgery ; Syndrome ; Vitrectomy/methods

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: We report a case of band keratopathy caused by hyperparathyroidism which was treated using EDTA (disodium ethylenediaminetetraacetic acid). METHODS: A 33-year-old woman with band keratopathy caused by hyperparathyroidism with elevated serum calcium, without any eye abnormalities was seen at Korea university hospital. Her corneal epithelium was removed after topical anesthesia, and the lesion was exposed by chemical chelating agent of 0.02M EDTA for 10 minutes, then, dropped topically every 30 seconds, the grayish white opacity which presents the calcium deposits was removed by chemical chelation of 0.02M EDTA in cornea. RESULTS: Most of the opacity was disappeared by chemical chelation with improvement of vision by 4 lines from 10/100 to 10/20. Cosmeticity was improved dramatically as well. No recurrence of corneal opacity was observed at 14 months after the operation. CONCLUSIONS: We experienced one case of band keratopathy caused by only hyperparathyroidism with hypercalcemia, without chronic uveitis, glaucoma, corneal edema, recurrent trauma any eye abnormalities. The primary band keratopathy was successfully treated by chemical chelation of EDTA : visual acuity was improved, foreign body sensation was relieved, and good cosmetic results were achieved. To our best knowledge, this is the first case of primary band keratopathy with hyperparathyroidism with hypercalcemia without any eye abnormalities, and we successfully treated by chemical chelation of EDTA.
Adult ; Anesthesia ; Calcium ; Cornea ; Corneal Edema ; Corneal Opacity ; Edetic Acid* ; Epithelium, Corneal ; Eye Abnormalities ; Female ; Foreign Bodies ; Glaucoma ; Humans ; Hypercalcemia ; Hyperparathyroidism* ; Korea ; Recurrence ; Sensation ; Uveitis ; Visual Acuity

Aicardi syndrome is a rare neurodevelopmental disease characterised by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral callosum, chorioretinopathy and electroencephalogram abnormality. We present a case of Aicardi syndrome with callosal hypogenesis in a 4.5-month-old baby who presented with infantile spasms. Ophthalmoscopy revealed chorioretinal lacunae. The clinical and magnetic resonance imaging features were diagnostic of Aicardi syndrome.
Agenesis of Corpus Callosum ; diagnosis ; Aicardi Syndrome ; diagnosis ; Brain ; diagnostic imaging ; pathology ; Choroid ; abnormalities ; Cornea ; physiopathology ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; methods ; Malformations of Cortical Development ; diagnosis ; Ophthalmoscopy ; methods ; Radiography ; Retina ; abnormalities ; Spasms, Infantile ; diagnosis

OBJECTIVE: To explore the clinical and genetic characteristics of a child featuring developmental delay. METHODS: The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father. CONCLUSION A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.
Abnormalities, Multiple/genetics* ; Adult ; Cataract/genetics* ; Child ; Cornea/abnormalities* ; Female ; Humans ; Hypogonadism/genetics* ; Intellectual Disability/genetics* ; Male ; Microcephaly/genetics* ; Mutation ; Optic Atrophy/genetics* ; Whole Exome Sequencing ; rab3 GTP-Binding Proteins/genetics*

PURPOSE: To report the results of secondary posterior chamber intraocular lens (PC-IOL) implantation in pediatric cataract eyes with microcornea and/or microphthalmos. METHODS: Retrospective studies were conducted by reviewing the charts of 26 eyes of 15 patients with secondary PC-IOL implantations for microcornea and/or microphthalmos associated with cataract in children between 1999 and 2002. The corneal diameter was 9.5 mm or less at the time of secondary PC-IOL implantation. Preoperative examinations were conducted for bilaterality, corneal diameter, eye abnormalities and systemic abnormalities. Postoperative results were evaluated in terms of visual developments, refractive changes, axial length measurements and the occurrence of complications. The follow-up period was at least one year after secondary PC-IOL implantation. RESULTS: Age at the first diagnosis for cataract with microcornea and/or microphthalmos was 2.7 months on average. Among 15 patients, 8 (53.3%) had a family history. All patients received an initial irrigation and aspiration, posterior capsulectomy, and anterior vitrectomy at 0.8 years (0.1-3.3 years) of age and a secondary PC-IOL implantation surgery at 6.7 years (1.6-17.2 years) of age on average. The postoperative follow-up period was 2.1 years (1.1-4.3 years) on average. The average power of the implanted PC-IOL was +21.2D. Postoperative complications were secondary glaucoma in two eyes, secondary pupillary membrane formation in two eyes. Best corrected visual acuities in 20 eyes in children capable of the vision test at the last follow-up were 20/60 or better in 11 eyes, 20/80 to 20/150 in eight eyes, and 20/200 or worse in one eye. CONCLUSIONS: The secondary PC-IOL implantation in pediatric cataract with microcornea and/or microphthalmos is recommended as a means of improving vision, but must be conducted carefully to avoid possible complications.
Visual Acuity ; Treatment Outcome ; Retrospective Studies ; Refraction, Ocular ; Prosthesis Design ; Microphthalmos/*complications/surgery ; *Lenses, Intraocular ; Lens Implantation, Intraocular/*methods ; Infant, Newborn ; Infant ; Humans ; Follow-Up Studies ; Corneal Diseases/*complications/surgery ; Cornea/*abnormalities/surgery ; Child, Preschool ; Child ; Cataract/*complications ; Adolescent

Abnormalities, Multiple ; diagnostic imaging ; genetics ; Cataract ; congenital ; diagnostic imaging ; genetics ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; genetics ; Cornea ; abnormalities ; diagnostic imaging ; Head ; diagnostic imaging ; Humans ; Hypogonadism ; diagnostic imaging ; genetics ; Infant ; Intellectual Disability ; diagnostic imaging ; genetics ; Male ; Microcephaly ; diagnostic imaging ; genetics ; Optic Atrophy ; diagnostic imaging ; genetics ; Phenotype