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Table 1 Clinical findings at prolonged follow-up of the entire family. No family member presented signs of a spinal cord lesion or pediatric onset of the symptoms. The individuals in the family pedigree are identified as follows: 1 Great-grandmother; 2, Uncle; 3, Uncle; 4, Grandmother; 5, Aunt; 6, Aunt; 7, Mother; 8, Proband

From: Subclinical Leber’s hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye

  1 Great grandmother 2 Uncle 3 Uncle 4 Grandmother 5 Aunt 6 Aunt 7 Mother 8 Proband
Gender F M F F F F F F
Mutation G3460A Heteroplasmic Homoplasmic Homoplasmic Homoplasmic Homoplasmic Homoplasmic Heteroplasmic Homoplasmic
Age at onset -y Unknown Unknown Unknown 30 21 9 5
Signs of onset Ipovisus Ipovisus Iipovisus Ipovisus
Unilateral to bilateral optic neuritis
Ipovisus
Unilateral optic neuritis
Ipovisus
Bilateral optic neuritis
No signs at ophthalmologic visit 2011 Spinal cord lesion
MRI brain signs Multiple periventricular subcortical lesion Negative
OCB in CSF Absent Absent
Progression of the disease Blindness Blindness
Headache
Blindness
Psychiatric comorbidities
Vertigo
Tremor
Diplopia
Psychiatric trait
Bilateral scotoma
Headache
Monolateral scotoma left eye; blind right eye
Disorders associated Unknown Unknown Unknown Rolandic epilepsy
Pericarditis
ANA pos.
Osteoid osteoma LLAC pos. Connectivitis Headache Cutaneous mastocytosis
Therapy       Idebenon Aspirin
Corticosteroids
Idebenon
Follow-up duration 20 ys 20 ys 20 ys 20 ys 7 ys 14 ys 5y 1 y