{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T06:04:09Z","timestamp":1671689049467},"reference-count":19,"publisher":"Czech Society of Ophthalmology of the CzMA","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CSO"],"published-print":{"date-parts":[[2022,12,5]]},"abstract":"<jats:p>Goal: This paper describes a\u00a0case of a\u00a0long-term monitoring of a\u00a0patient with optic nerve swelling on the ocular background (papilledema), accompanied by symptoms of intracranial hypertension, on whom a\u00a0genetic examination was performed as part of differential diagnosis, confirming Leber Hereditary Optic Neuropathy with the m.3460G&gt;A\u00a0mutation.\nCasuistry: During the examination of a\u00a05-year-old patient after an alleged head injury at a\u00a0bouncy castle, an optic nerve papilla with unclear boundaries was described on the ocular background of both eyes. Neurological examination, including brain Magnetic Resonance Imaging, was indicated to rule out possible intracranial hypertension. Both examinations yielded a\u00a0finding within the norm. After eight years of regular follow-up, the patient attended to our clinic with acute problems in terms of sudden visual impairment during baseball training. The performed eye examination revealed a\u00a0deterioration of the vision of the right eye on counting fingers to 50 cm, vision of the left eye to 0.4 naturally, a\u00a0slowed photoreaction of the right pupil, prominent optic nerve papilla with unclear boundaries on both eyes, dilated and more coiled vessels with a\u00a0crossing phenomenon, the retinal periphery shows no focal changes. Due to the swelling of the papilla, acute deterioration of the vision and the suspected intracranial hypertension, the patient was immediately referred for neurological examination and subsequent hospitalization. There, the patient underwent computer tomography of the brain, venography of the dural venous sinuses and an initial laboratory examination that showed no pathology. There was increasing headache, nausea and vomiting throughout the period. A\u00a0lumbar puncture was performed. The cerebrospinal fluid pressure before sampling was 285 mmH2O and 100 mmH2O after sampling. The biochemistry of the fluid was normal with negative microbiology. Evoked visual potentials had bilaterally prolonged latencies, which corresponds to optic nerve compression. An ophthalmological examination ruled out a\u00a0drusen papilla. Using Optical Coherence Tomography, a\u00a0600 \u00b5m edema was detected. The patient underwent two relieving lumbar punctures, which led to a\u00a0subjective improvement without objective improvement. Finally, the neurosurgeon referred the patient for ventriculoperitoneal drainage. Due to the impaired vision and lack of response to the therapy induced, a\u00a0genetic test was performed, which confirmed Leber Hereditary Optic Neuropathy with the mutation of m.3460G&gt;A.\nConclusion: Despite the substantially improved identification of the Leber Hereditary Optic Neuropathy, the diagnosis may still be significantly delayed. The variability of initial findings, the rare incidence of the disease and few well-defined symptoms of the disease lead to significant diagnostic difficulties and late commencement of treatment. It is not possible to say whether there was a\u00a0coincidence of IIH and LHON or whether the signs of IIH are a\u00a0possible concomitant of the acute phase of LHON.<\/jats:p>","DOI":"10.31348\/2022\/18","type":"journal-article","created":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T15:57:58Z","timestamp":1671638278000},"page":"197-204","source":"Crossref","is-referenced-by-count":0,"title":["Coincidence of Idiopathic Intracranial Hypertension and Leber Hereditary Optic Neuropathy. A Case Report"],"prefix":"10.31348","volume":"78","author":[{"given":"Olga","family":"Myrgorodska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"16213","published-online":{"date-parts":[[2022,12,30]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"Dafallah MA, Habour E, Ragab EA, Shouk ZM, Izzadden M. Idiopathic intracranial hypertension with multiple cranial nerve palsies in 10 years old thin Sudanese boy: case report. 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