A Rear Cause of Blindness in a Patient with Nasal Polyposis. Leber’s Hereditary Optic Atrophy of Visual Nerve

Česká verzia

Authors: P. Bruthansová ¹; J. Vokurka ¹; P. Diblík ²; D. Dočekalová ³; E. Rozsypalová ³; J. Zeman ³; J. Plzák ^1,4
Authors place of work: Klinika otorinolaryngologie a chirurgie hlavy a krku 1. LF UK a FNM, Praha ¹; Oční klinika 1. LF UK a VFN, Praha ²; Klinika dětského a dorostového lékařství 1. LF UK a VFN, Praha ³; Anatomický ústav 1. LF UK, Praha ⁴
Published in the journal: Otorinolaryngol Foniatr, 60, 2011, No. 3, pp. 169-171.
Category: Case History

Summary

On this case report we present a rear cause of blindness in a middle-aged patient, who had a pathologic finding in paranasal sinuses on CT and MRI scans.

A 46year old man was send for further examination from the Department of Ophthalmology for nasal polyposis and blurring of paranasal sinuses on the CT and MRI scans. He was examined for almost complete loss of vision first on the left eye and after 7 months for worsening of vision on the right eye. Step by step infectious, vascular and toxic etiology, sclerosis multiplex and Wegener graulomatosis were excluded. In the ophthalmological examination an atrophy of optic nerve on the left eye and edema of optic disc on the right eye was described. This finding was suspicious from invasive mycotic sinusitis or compression of the optic nerve. None of these were confirmed after a FESS was made. Consequently mitochondrial DNA mutation causing Leber hereditary optic atrophy (LHON) was considered. The patient was sent to a genetic examination which confirmed a homoplasmic mutation 11778G>A specific for LHON.

Key words:
blindness, visual nerve, DNA mutation.

Zdroje

1. Čechová, L., Bartoš, A., Bartošová, J., Doležil, D.: Leberova hereditární optická neuropatie s oligoklonálními pásy v likvoru považovaná za roztroušenou sklerózu - kazuistika. Česká a Slovenská Neurologie a Neurochirurgie, roč. 72/105, 2009, č. 2, s. 155-158.

2. Čelakovský, P., Vokurka, J., Školoudík, L., Růžička, J.: Optic neuritis and paranasal sinus diseases- case report. Central European Journal of Medicine, roč. 6, 2010, č. 1, s. 117-119.

3. De Vivo, Darryl C., Hirano, M.: Mitochondrial diseases with mutations of nuclear DNA. In Rowland, Lewis P., Pedley, Timothy A.: Merrittęs Neurology. 12th ed. Philadelphia, USA: Lippincott Williams & Wilkins a Wolters Kluwer Business, 2010. Section XI., s. 689-692.

4. Hirano, M., Behrens, Myles, M.: Leber hereditary optic neuropaty. In Rowland, Lewis P., Pedley, Timothy A.: Merrittęs Neurology. 12th ed. Philadelphia, USA: Lippincott Williams & Wilkins, a Wolters Kluwer Business, 2010. Section XI., s. 686-689.

5. Leber Hereditary Optic Neuropathy [on line]. 2010-05-22 [cit. 2011-05-30]. Dostupný na WWW: http://www.ifond. org/lhon.php3.

6. Vaněk, I., Bartošová, J., Bartoš, A.: Neurooftalmologie. In Kuchynka, P. a kol.: Oční lékařství. Praha, Grada, 2007, s. 501-554.