Visual disturbances in familial forms of multiple sclerosis

Abstract

Background: According to various studies, with the familial form of the disease opening symptoms are visual, oculomotor and sensory disorders, concordance with respect to the type of the disease.Objective: To explore the visual disturbances in the case of a familial form of MS.Materials and methods: Sister (38 years) with a history of ON, the first manifestation of 22 years of age — ataxia and nystagmus. Brother (27 years) the first manifestation of optic neuritis OD.Methods: RC-5000 «Tomey», OCT on Cirrus HD-OCT; HRT on Humphrey HFA II-750i on program 10-2; Microperimetry on MP-1, MRI of the brain and orbits (Siemens Magnetom Symphony 1.5 Tl).The results: The sister was significant damage to the central nervous system with the significant visual and neurological deficit.Diagnosis: relapsing–remitting MS, cerebrospinal form, optic nerve atrophy. Visus OU 0.01 n|c. OCT — Average RNFL Thickness OD 66 μm, OS 65 μm.Average GCL + IPL thickness OD 53 μm, OS 55 μm. Brother-Diagnosis: MS cerebrospinal form, optic neuritis. Visus 0,1 with corr. According Microperimetry mean Sensitivity OD 5,3 Db, mean Defect — 10,1 Db. OCT Average RNFL Thickness 91 μm, Average GCL + IPL Thickness 83 μm. MRI revealed multiple foci of demyelination and one active focus 8 mm in diameter in the projection of the right optic nerve.Conclusion: At the first manifestation of optic neuritis and family history of MS need to consult a neurologist, brain MRI and orbits, genetic examination. Background: According to various studies, with the familial form of the disease opening symptoms are visual, oculomotor and sensory disorders, concordance with respect to the type of the disease. Objective: To explore the visual disturbances in the case of a familial form of MS. Materials and methods: Sister (38 years) with a history of ON, the first manifestation of 22 years of age — ataxia and nystagmus. Brother (27 years) the first manifestation of optic neuritis OD. Methods: RC-5000 «Tomey», OCT on Cirrus HD-OCT; HRT on Humphrey HFA II-750i on program 10-2; Microperimetry on MP-1, MRI of the brain and orbits (Siemens Magnetom Symphony 1.5 Tl). The results: The sister was significant damage to the central nervous system with the significant visual and neurological deficit. Diagnosis: relapsing–remitting MS, cerebrospinal form, optic nerve atrophy. Visus OU 0.01 n|c. OCT — Average RNFL Thickness OD 66 μm, OS 65 μm. Average GCL + IPL thickness OD 53 μm, OS 55 μm. Brother-Diagnosis: MS cerebrospinal form, optic neuritis. Visus 0,1 with corr. According Microperimetry mean Sensitivity OD 5,3 Db, mean Defect — 10,1 Db. OCT Average RNFL Thickness 91 μm, Average GCL + IPL Thickness 83 μm. MRI revealed multiple foci of demyelination and one active focus 8 mm in diameter in the projection of the right optic nerve. Conclusion: At the first manifestation of optic neuritis and family history of MS need to consult a neurologist, brain MRI and orbits, genetic examination.