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Table 1 Clinical and genetic findings in LHON family

From: Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene – case report

Subject ID Sex Age, y Age at onset, y Visual condition at the first examination Current visual condition Idebenone treatment Recovery Neuropsychological assessment Neurologicalcomplication m.3460A > G
(% het)
m.961delTinsCn Copy number (mtDNA/nDNA)
RE LE RE LE Full scale scores IQ profile
IQV IQP IQT
I-2 F 71 70 20/20 20/20 20/20 20/20 HET (30%) n = 4 206 ± 15
II-1 F 47 39 20/20 20/20 20/20 20/20 Mild intellectual disability (50–69) 59 68 59 N HOM n = 5 713 ± 144
II-2 F 46 38 20/20 20/20 20/20 20/20 Borderline intellectual functioning (70–84) 74 78 73 N HET (40%) n = 5 636 ± 74
II-3 M 44 43 20/20 20/20 20/20 20/20 N HOM n = 6 213 ± 9
III-1 M 25 17 20/200 20/200 20/800 Light perception Y N Mild intellectual disability (50–69) 53 53 Epilepsy; Migraine HOM n = 9 240 ± 86
III-2 M 21 20 20/20 20/20 20/200 20/200 Borderline intellectual functioning (70–84) 66 82 72 Epilepsy Migraine HOM n = 7 604 ± 149
III-3 F 18 12 20/25 20/25 20/25 20/25 Borderline intellectual functioning (70–84) 84 86 84 N HOM n = 8 667 ± 72
III-4 M 18 10 20/20 20/20 20/20 20/20 Borderline intellectual functioning (70–84) 67 78 76 N HET (40%) n = 7 739 ± 184
  1. Ophthalmological findings, extraocular signs, demographical data, genetic diagnosis and possible exposure to environmental risk factors and neuropsychological assessment are presented
  2. The test is composed of verbal and performance scales divided into subtests in agreement with the different contents and type of intellectual operation required. The result is composed of three different scores: a total IQ (IQT), a Verbal IQ (IQV) and a Performance IQ (IQP). The two scales can be used separately to see if a person has particular strengths or weaknesses. The design of the test, with two scales, means that the verbal and performance scales can be independently used. Scale scores in the Verbal battery represent the sum and are converted to a Verbal IQ score; the same is done for the Performance scale scores that yield to the Performance IQ score. In turn, the Verbal and Performance IQ scores are overall converted to obtain the Full-Scale IQ score. The Verbal, Performance and Full-Scale IQ scores are normal IQs having a mean of 100 ± 15sd
  3. M male, F female, HOM Homoplasmic, HET Heteroplasmic, N no, Y yes, n.a. not available, RE right eye, LE left eye, IQT total IQ, IQV verbal IQ, IQP performance IQ