Neslihan Sevimli1, Remzi Karadag2*, Bahri Aydin3, Müferret Ergüven4 and Hüseyin Bayramlar5
1Department of Ophthalmology, Istanbul Medeniyet University Goztepe Research and Training Hospital, Goztepe, Istanbul, Turkey
2Department of Ophthalmology, Associate Prof., Istanbul Medeniyet University, Faculty of Medicine, Goztepe, Istanbul, Turkey
3Department of Ophthalmology, Associate Prof., Istanbul Medeniyet University, School of Medicine, Goztepe, Istanbul, Turkey
4Department of Pediatrics, Prof., Istanbul Medeniyet University Goztepe Research and Training Hospital, Goztepe, Istanbul, Turkey
5Department of Ophthalmology, Prof., Istanbul Medeniyet University, School of Medicine, Goztepe, Istanbul, Turkey
Received: 24 October, 2014; Accepted: 08 January, 2015; Published: 10 January, 2015
Remzi Karadag, MD, Associate Prof., Istanbul Medeniyet University, Faculty of Medicine, Department of Ophthalmology, Goztepe, Istanbul, TURKIYE, Tel: +90 216 2803333; Fax: +90 216 6022800; Email:
Sevimli N, Karadag R, Aydin B, Ergüven M, Bayramlar H (2015) Eye Involvement as the Initial Sign of Multiple Sclerosis in a Case with Familial Mediterranean Fever. J Clin Res Ophthalmol 2(1): 010-012. DOI: 10.17352/2455-1414.000009
© 2015 Sevimli N, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Familial mediterranean fever; Loss of vision; Multiple sclerosis; Papilledema; Retinal hemorrhages
Purpose: To present a case of familial Mediterranean fever with eye involvement as the initial sign of multiple sclerosis.
Method: A 13-year-old boy with familial mediterranean fever (FMF) presented with sudden loss of vision in his right eye.
Findings: Visual acuity was 50 cmfc (centimeter finger counting) in the right eye associated with papilledema and intraretinal Hemorrhages: Magnetic resonance imaging (MRI) scans revealed a hyper-intense lesion in left occipital lobe. Two days later, left eye was also affected, while the right eye began to deteriorate. In control MRI, lesions were observed to have deterioriated with the involvement of right occipital lobe and pons in addition to the left occipital lobe. Patient was diagnosed with multiple sclerosis (MS) due to FMF and was hospitalized. After a 2-weeks-treatment of steroid and immunoglobulin (Ig), visual acuity improved; fundus findings regressed.
Conclusion: Eye involvement may be the first sign of MS in a case of established FMF.
Familial Mediterranean fever (FMF) is a common hereditary auto-inflammatory disease characterized by recurrent and self-limited attacks of serosal inflammation. The disease demonstrates an autosomal recessive inheritance pattern. Serositis can be observed as abdominal pain (peritonitis), chest pain (pleuritis) and joint pain (arthritis) usually accompanied by fever. The disease is more prevalent among the people living in the Middle East and Mediterranean regions. The prevalence ranges from 1/250 to 1/1000 depending upon the geographic locations . Reports of ophthalmological manifestations in FMF are few and include retinal changes, panuveitis, anterior uveitis, scleritis, and episcleritis .
Multiple Sclerosis (MS) is a disease of the central nervous system characterized by multiple areas of inflammation and demyelination in the white matter of the brain and spinal cord . Common neuro-ophthalmologic manifestation of MS is unilateral and painful vision loss due to optic neuritis. This is the first manifestation of MS, and usually appears as single-sided retrobulbar optic neuritis. Ocular motor deficits in multiple sclerosis include inter nuclear ophthalmoplegia (INO) and nystagmus, resulting in diplopia, oscillopsia, blurred vision, loss of stereopsis, and reading fatigue .
Central nervous system manifestations are rare in FMF, but in some cases, similar genetic susceptibility, environmental factors and described pathophysiological events show that MS may be associated with FMF patients and these patients can manifest with neurological symptoms especially in young adult . To the best of our knowledge, this is the first case report of MS associated with FMF which manifests with eye involvement.
A 13 year old boy with the diagnosis of FMF since the age of 5 had been successfully treated with colchicine. He had a sister who also had FMF. He presented with headache and blurry vision in the right eye, which had started one week prior to his admission. Visual acuity was 50 cmfc in the right eye and 1.0 in the left eye taken by snellen chart. No abnormality was detected in the left eye. The right optic disc was edematous and associated with the enlargement of the retinal veins and small retinal hemorrhages. Fundus fluorescein angiography revealed optical disc leakage. The right eye showed a relative afferent pupillary defect. A well-defined hyper-intense lesion was detected in the left occipital region in MRI and the patient was hospitalized. Two days later, visual acuity was reduced to no light perception in the right eye and to 50 cmfc in left. Both of the optic discs were reddish and swollen. There were macular and intra retinal hemorrhages and varicouse enlargement of retinal veins (Figure 1).
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