Crouzon's disease is a peculiar type of craniosynostosis which is premature closure of the suture, and deformities of craniofacial bone. Such a many deformities are caused by continuing brain growth unrelated to damaged bone growth. The authors presented a case of Crouzon's disease in a 4-year old male patient who has characteristic clinical findings with particular sensory neural type hearing loss and generalized seizure.
Bone Development ; Brain ; Child, Preschool ; Congenital Abnormalities ; Craniofacial Dysostosis* ; Craniosynostoses ; Hearing Loss ; Humans ; Male ; Seizures ; Sutures

PURPOSE: To describe a case of Wyburn-Mason Syndrome, which is a rare phakomatosis, and its associated optical coherence tomography findings. CASE SUMMARY: A 5-year-old boy was referred to our clinic for decreased vision in his right eye. He had nevus flammeus on his right forehead, upper eyelid, and cheek. His best corrected visual acuity was hand motion in the right eye, in which a relative afferent pupillary defect was noted. Fundus examination of the right eye showed marked dilation and tortuosity of retinal vessels, which could not be discriminated between arteries and veins on the posterior pole. Optical coherence tomography showed multiple large intraretinal vessels without involvement of the internal limiting membrane. Cerebral angiography revealed arteriovenous malformations (AVMs) and feeder vessels from the internal carotid artery to the ophthalmic artery, extending to the ethmoidal artery in the nasal cavity. CONCLUSIONS: Wyburn-Mason syndrome is a rare phakomatoses and shows unique retinal AVM. Misdiagnosis or undertreatment of Wyburn-Mason syndrome can lead to serious complications. Patients with facial nevus flammeus should undergo thorough ocular examinations to rule out this disorder. Optical coherence tomography is a useful method for understanding structural features of retinal vascular malformations in Wyburn-Mason syndrome.
Arteries ; Arteriovenous Malformations ; Carotid Artery, Internal ; Cerebral Angiography ; Cheek ; Child, Preschool ; Diagnostic Errors ; Eyelids ; Forehead ; Hand ; Humans ; Male ; Membranes ; Methods ; Nasal Cavity ; Neurocutaneous Syndromes ; Nevus* ; Ophthalmic Artery ; Port-Wine Stain* ; Pupil Disorders ; Retinal Vessels ; Retinaldehyde ; Tomography, Optical Coherence* ; Vascular Malformations ; Veins ; Visual Acuity

Wall-eyed monocular internuclear ophthalmoplegia (WEMINO) with contraversive ocular tilt reaction has not been previously reported. A 71-year-old woman suddenly developed blurred vision. Examination revealed left internuclear ophthalmoplegia, left exotropia, right hypotropia, and rightward head tilt. Magnetic resonance imaging showed a tiny infarction at the area of the left medial longitudinal fasciculus in the upper pons. WEMINO with contraversive ocular tilt reaction may be caused by a paramedian pontine tegmental infarction that selectively involves the medial longitudinal fasciculus.
Aged ; Exotropia ; Female ; Head ; Humans ; Infarction ; Magnetic Resonance Imaging ; Ocular Motility Disorders* ; Pons

PURPOSE: To report the results of preschool vision screening of South Korean children in the year of 2001. METHODS: Nation-wide population-based vision screening tests were conducted in a stepwise manner on the preschool children over 3 years of age. The first step of test was home-screening using 5 familiar picture cards. The children who didn't pass the first step (VA < 0.5 in at least one eye) were sent to the Public Health Care Centers and re-tested there with regular vision charts. After this second step of test, some children were referred to the ophthalmologists. The referral criteria for visual acuity were: at 3 years less than 0.5, at 4 or above 4 years less than 0.63 in at least one eye. Data were collected for the 67, 315 children to evaluate the ophthalmologic conditions. RESULTS: Among 67, 315 subjects who had been enrolled, 97% of children had visual acuity of 0.5 or better. Of those screened, 5, 221 (7.8%) children were referred to the ophthalmologists. The feedback results for 3, 058 (4.6%) children could be collected. Of those referred, 2, 488(80.6%) had one or more ophthalmologic disorders. Refractive errors were found in 2183 children. Amblyopia was discovered in 560 children. Manifest strabismus was detected in 144 children. CONCLUSIONS: In this population setting, ocular disorders which can affect visual development were found in 2, 488 children. This attests to the importance of performing early and effective screening tests for preschool children.
Amblyopia ; Child ; Child, Preschool ; Humans ; Korea* ; Mass Screening ; Public Health ; Referral and Consultation ; Refractive Errors ; Strabismus ; Vision Screening* ; Visual Acuity

PURPOSE: To assess the embolization effect of dural arteriovenous fistula(DAVF). MATERIALS AND METHODS: Weevaluated 23 patients with DAVF who were diagnosed using digital subtraction angiography and treated bytransarterial and/or transvenous emobolization. The locations of DAVFs, as seen on angiography were as follows: 16in the cavernous sinus, four in the major dural sinuses, two in the jugular bulb, one in the torcula Herophili,and one in the tentorium cerebelli. On the basis of venous drainage patterns, Cognard's classification of DAVF wasused. Among our 23 patients, 13 underwent transarterial embolization, six underwent transvenous embolization, andfour underwent both. After embolization, three patients underwent other treatment: surgery, one ; gammairradiation, one ; and both. One. Polyvinyl alcohol particles or glue was used in transarterial embolization, andtungsten, platinum, or Guglielmi detachable coils in transvenous embolization. To analyse the residual lesion inDAF, we compared pre- and post-treatment angiograms ; patients were followed up for 2 to 48 months, and theircondition was assessed as cured, improved, not changed, or aggravated. RESULTS: Nine patients were found to beCognard type I, two were IIa, four were IIa+b, and eight were type III. Of our 23 patients, 12 were cured, tenimproved, and one was aggravated ; of the 13 who underwent transarterial embolization, four were cured, eightimproved, and one was aggravated ; of the six who underwent transvenous embolization, five were cured and oneimproved. The condition of a patient with a lesion in the torcular herophili was aggravated despite surgery andgamma irradiation after embolization. CONCLUSION: DAVF can be managed successfully with endovascular treatment.The outcome of the transvenous approach appears to be better than that of the transarterial approach alone. In acase involving a lesion in the torcular herophili, the outcome was poor and more aggressive treatment wasrequired.
Adhesives ; Angiography ; Angiography, Digital Subtraction ; Arteriovenous Fistula ; Cavernous Sinus ; Central Nervous System Vascular Malformations* ; Classification ; Drainage ; Humans ; Platinum ; Polyvinyl Alcohol

Background: To report the clinical manifestations of non-arteritic anterior ischemic optic neuropathy (NAION) cases after coronavirus disease 2019 (COVID-19) vaccination in Korea. Methods: This multicenter retrospective study included patients diagnosed with NAION within 42 days of COVID-19 vaccination. We collected data on vaccinations, demographic features, presence of vascular risk factors, ocular findings, and visual outcomes of patients with NAION. Results: The study included 16 eyes of 14 patients (6 men, 8 women) with a mean age of 63.5 ± 9.1 (range, 43–77) years. The most common underlying disease was hypertension, accounting for 28.6% of patients with NAION. Seven patients (50.0%) had no vascular risk factors for NAION. The mean time from vaccination to onset was 13.8 ± 14.2 (range, 1–41) days. All 16 eyes had disc swelling at initial presentation, and 3 of them (18.8%) had peripapillary intraretinal and/or subretinal fluid with severe disc swelling. Peripapillary hemorrhage was found in 50% of the patients, and one (6.3%) patient had peripapillary cotton-wool spots. In eight fellow eyes for which we were able to review the fundus photographs, the horizontal cup/ disc ratio was less than 0.25 in four eyes (50.0%). The mean visual acuity was logMAR 0.6 ± 0.7 at the initial presentation and logMAR 0.7 ± 0.8 at the final visit. Conclusion Only 64% of patients with NAION after COVID-19 vaccination have known vascular and ocular risk factors relevant to ischemic optic neuropathy. This suggests that COVID-19 vaccination may increase the risk of NAION. However, overall clinical features and visual outcomes of the NAION patients after COVID-19 vaccination were similar to those of typical NAION.