• Journal of Korean Neurosurgical Society
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• v.40 no.1
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• pp.28-30
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• 2006

Two patients presented with amaurosis fugax[AMF]. despite treatment with antiplatelet drugs and anticoagulants due to previous transient ischemic attacks. Angiography demonstrated severe stenosis in the cavernous and petrous internal carotid artery[ICA] respectively, with reduced flow in the ophthalmic artery[OA]. Endovascular stent placement in both patients resulted in normalization of the vessel lumen of the stenotic vessel segments. In addition, complete restoration of OA flow was noted immediately after stenting. Both patients showed no further episode of AMF over a follow-up period of 38 and 23 months respectively. Our clinical and angiographic findings suggest that hemodynamic Insufficiency in retinal vasculature caused by a stenosis of the cavernous or petrous ICA can be treated successfully by endovascular stent.

• Childhood Kidney Diseases
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• v.11 no.1
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• pp.112-117
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• 2007

Although juvenile nephronophthisis(NPHP) is one of the most frequent genetic causes of chronic renal failure, it has very rarely been reported in Korean children. Most NPHP patients are found to have chronic renal failure, since there are no distinct clinical symptoms for NPHP except polydipsia, polyuria and enuresis in the early stage of disease. Ten percent of NPHP patients manifest retinitis pigmentosa, called $Senior-L\ddot{o}ken$ syndrome. We experienced 2 cases of $Senior-L\ddot{o}ken$ syndrome that occurred in siblings(a 10 year-old boy and a 14-year-old girl) who were diagnosed with Leber's amaurosis. They were found to have severe renal impairment without polydipsia and polyuria. However, no large homogenous deletion of the NPHPI(2q13) gene was not identified in these patients. We report here on these cases and we review the literature to emphasize the association between Leber's amaurosis and the development of chronic renal failure.

• Journal of Yeungnam Medical Science
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• v.23 no.1
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• pp.113-117
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• 2006

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that may affect many organ systems including the nervous system. The immune response in patients with SLE can cause inflammation and other damage that can cause significant injury to the arteries and tissues. A 48-year-old woman was admitted to the hospital because of transient monocular blindness. Magnetic resonance imaging and conventional angiography showed severe stenosis of the distal intracranial internal carotid artery. The patient was diagnosed as having SLE but the antiphospholipid antibodies were negative. Amaurosis fugax has not been previously reported as an initial manifestation of SLE in Korea. We report a patient with a retinal transient ischemic attack as the first manifestation of SLE.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.39-42
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• 2020

The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364^⁎). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

• Journal of Dental Anesthesia and Pain Medicine
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• v.15 no.2
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• pp.93-96
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• 2015

Although inferior alveolar nerve block is one of the most common procedures performed at dental clinics, complications or adverse effects can still occur. On rare occasions, ocular disturbances, such as diplopia, blurred vision, amaurosis, mydriasis, abnormal pupillary light reflex, retrobulbar pain, miosis, and enophthalmos, have also been reported after maxillary and mandibular anesthesia. Generally, these symptoms are temporary but they can be rather distressing to both patients and dental practitioners. Herein, we describe a case of diplopia caused by routine inferior alveolar nerve anesthesia, its related physiology, and management.