Sandhoff disease is a rare autosomal recessive metabolic disease presenting bilateral optic atrophy and a cherry red spot in the macula. This case report presents the characteristics of a patient with Sandhoff disease as assessed by ophthalmic, neuroimaging, and laboratory procedures. Ophthalmologic examination revealed that the patient could not fixate her eyes on objects nor follow moving targets. A pale optic disc and a cherry red spot in the macula were seen in both eyes. Low signal intensity at the thalamus and high signal intensity at the cerebral white matter were noted in a T2-weighted brain MR image. A lysosomal enzyme assay using fibroblasts showed the marked reduction of both total beta-hexosaminidases, A and B. Based on the above clinical manifestations and laboratory findings, we diagnosed the patient as having Sandhoff disease.
Atrophy ; Cerebral Cortex/*pathology ; Child, Preschool ; Female ; Humans ; Isoenzymes/deficiency ; Lipid Metabolism, Inborn Errors/*diagnosis/enzymology ; Magnetic Resonance Imaging ; Ocular Motility Disorders/*diagnosis ; Optic Disk/*pathology ; Retinal Diseases/*diagnosis ; Sandhoff Disease/*diagnosis/enzymology ; Thalamus/pathology ; beta-N-Acetylhexosaminidase/deficiency

PURPOSE: To evaluated the effect of cataract surgery on intraocular pressure (IOP) in primary angle-closure glaucoma (PACG) and primary open-angle glaucoma (POAG), and to find predictors for a favorable postoperative IOP after cataract surgery in patients with coexisting cataract and glaucoma. METHODS: Various clinical factors were evaluated in 68 patients (76 eyes) with well controlled primary glaucoma who had undergone cataract surgery. The differences in parameters between groups divided by postoperative IOP course were analyzed. RESULTS: For this study, successful IOP control was defined as an IOP between 6 mmHg and 21 mmHg without anti-glaucoma medication at last visit after cataract surgery. Eyes with the highest preoperative IOPs less than 28 mmHg in POAG and 42 mmHg in PACG had a significantly higher probability of success. In PACG, the probability of success was significantly higher, if fewer than three anti-glaucoma medications were given before surgery and if the areas of PAS before surgery were less than 4 hours. CONCLUSIONS: Primary small incision cataract surgery using phacoemulsification and foldable intraocular lens implantation could be considered the procedure of choice for a selective group of patients with coexisting glaucoma and visually significant cataract, with respect to IOP, the number of anti-glaucoma medications, and the area of peripheral anterior synechiae.
Cataract* ; Glaucoma ; Glaucoma, Angle-Closure* ; Glaucoma, Open-Angle* ; Humans ; Intraocular Pressure* ; Lens Implantation, Intraocular ; Phacoemulsification

PURPOSE: To investigate the recovery time associated with refractive and corneal topographic changes after discontinuing short term wear of reverse-geometry contact lenses in low and moderate myopic patients. METHODS: Twenty-four eyes of 12 patients who were fitted with Ortho-K LK(TM) lenses for a mean duration of 7.9 months were divided into two groups based on the mean manifest refraction (MR) of -3.50D. In groups I (mean MR -2.83D) and II (mean MR -4.00D), uncorrected visual acuity, refractive correction, and topographic changes were evaluated at 3 days; 1, 2, and 3 weeks; and 1, 2, 3, and 6 months after discontinuation of lens wear. Corneal thickness was measured at its center and 3.0 mm from its center. RESULTS: The uncorrected visual acuity, mean spherical equivalent, and average apical keratometric indices recovered at 2 weeks and 1 month after discontinuation of lens wear in groups I and II, respectively. Mean Sim K and corneal thickness recovered at 1 and 2 weeks in groups I and II, respectively. All of the recovered indices remained stable at 6 months. CONCLUSIONS: Recovery of corneal changes after short-term use of reverse-geometry lenses was achieved at 2 weeks in cases of low myopia (less than -3.50D) and at 1 month in cases of moderate myopia (more than -3.50D), with both remaining stable to the 6-month mark.
Contact Lenses ; Humans ; Myopia* ; Visual Acuity

PURPOSE: To provide fundamental data for screening for prior refractive surgery in donor cornea. METHODS: The corneal curvature map and pachymetric measurements were analyzed in 68 eyes that had undergone corneal refractive surgery. Differences in the corneal curvature of the center and periphery, differences in the corneal thickness of the center and periphery, and the shape factor on the curvature map in postoperative eyes were compared with preoperative measurements. RESULTS: Measurement of the central corneal curvature subtracted from the peripheral corneal curvature was -1.64 +/- 0.71D in the preoperative eyes and 3.10 +/- 1.68D in the postoperative eyes. With a criterion of -0.23D, the sensitivity and specificity were 100% and 98.5%, respectively. The shape factor was 0.24 +/- 0.09 in the preoperative eyes and -0.82 +/- 0.45 in the postoperative eyes. With a criterion of 0.058, the sensitivity and specificity were both 100%. Measurement of the central corneal thickness subtracted from the peripheral corneal thickness was 97.60 +/- 25.42 micrometer in the preoperative eyes and 163.47 +/- 38.5 micrometer in the postoperative eyes. With a criterion of 123.0 micrometer, the sensitivity and specificity were 89.7% and 88.4%, respectively. CONCLUSIONS: Regional differences in corneal curvature and shape factor may be very useful parameters in screening for prior refractive surgery in donor cornea. The difference in corneal thickness may also be a useful parameter.
Cornea ; Humans ; Mass Screening* ; Refractive Surgical Procedures* ; Sensitivity and Specificity ; Tissue Donors

Behcet's disease is a recurrent and multisystemic disorder which usually persists over many years. In 1937 Behcet described a chronic relapsing triple symptom complex of recurrent oral ulceration, genital ulceration and ocular inflammation. Other manifestations of the syndrome include arthritis, cutaneous vasculitis, thrombophlebitis, epididymitis, ulcers of gastrointestinal tract and meningoencephalitis. Recently, a case was experienced involving intestinal Behcet's syndrome with duodenal ulcer bleeding. A 32-year-old male patient was admitted due to hematemesis, and epigastric pain. The patient had ulcers on the oral mucosa, soft palate, external genitalia, and anus. An irregularly marginated ulcer with bleeding was found on the anterior of the duodenal bulb through esophago- gastroduodenoscopic examination. The patient was diagnosed with Behcet's disease and was treated with steroids. In this paper, the case of duodenal bulb involvement of Behcet's disease is reported with a review of relevant literature.
Adult ; Anal Canal ; Arthritis ; Behcet Syndrome ; Duodenal Ulcer* ; Epididymitis ; Gastrointestinal Tract ; Genitalia ; Hematemesis ; Hemorrhage ; Humans ; Inflammation ; Male ; Meningoencephalitis ; Mouth Mucosa ; Oral Ulcer ; Palate, Soft ; Steroids ; Thrombophlebitis ; Ulcer ; Vasculitis