A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls

Abstract

Families with LHON may show considerable variations of the clinical course and the gender- or age-specific risk. We present a family with a high disease penetrance of 64% and a 2 times higher risk for young females than for males. Furthermore, early visual loss in this family is permanent.

Ladies with Leber's Hereditary Optic Neuropathy: An Atypical Disease

“…A German group described a pedigree where eight out of nine females suffered visual loss with the 11778 mutation (12). The average age of onset was 10 years and there was no evidence of vision recovery.…”

Cuban Epidemic Optic Neuropathy and its Relationship to Toxic and Hereditary Optic Neuropathy

“…Three families, not studied by DNA testing, were diagnosed clinically or by maternal inheritance. 60 In those families, which have been confirmed by mitochondrial DNA testing, three typical primary mutations have been described; 11778 in more than 70% of cases and 3460 as well as 14484 mutations in the rest. In the region of Bayamo, there is a family with the largest number of known cases.…”

“…We believe that most of these patients have modifications of OPA1, which is associated with autosomal dominant optic atrophy (Figure 4). [51][52][53][54][55][56][57][58][59][60] Leber hereditary optic neuropathy is considered among the mitochondrial diseases with maternal inheritance and regularly does not lead to a visual deficit until adolescence, although in some cases it may develop at a young age or in the elderly. In Cuba, the youngest confirmed patients with Leber hereditary optic neuropathy by mitochondrial DNA analysis are a girl 9 years of age and a boy 11 years of age.…”

Neuro-ophthalmology of Mitochondrial Diseases

“…[25][26][27] One pedigree of LHON with the 11778 mutation in which females are predominantly affected has recently been reported. 28 The greater susceptibility of males to visual loss in LHON remains unexplained. The onset of visual loss typically occurs between the ages of 15 and 35 years, but otherwise classic LHON has been noted in patients ranging in age from 1 to 80 years.…”