The mitochondrial DNA (mtDNA) of 87 index cases with Leber hereditary optic neuropathy (LHON) sequentially diagnosed in Italy, including an extremely large Brazilian family of Italian maternal ancestry, was evaluated in detail. Only seven pairs and three triplets of identical haplotypes were observed, attesting that the large majority of the LHON mutations were due to independent mutational events. Assignment of the mutational events into haplogroups confirmed that J1 and J2 play a role in LHON expression but narrowed the association to the subclades J1c and J2b, thus suggesting that two specific combinations of amino acid changes in the cytochrome b are the cause of the mtDNA background effect and that this may occur at the level of the supercomplex formed by respiratory-chain complexes I and III. The families with identical haplotypes were genealogically reinvestigated, which led to the reconnection into extended pedigrees of three pairs of families, including the Brazilian family with its Italian counterpart. The sequencing of entire mtDNA samples from the reconnected families confirmed the genealogical reconstruction but showed that the Brazilian family was heteroplasmic at two control-region positions. The survey of the two sites in 12 of the Brazilian subjects revealed triplasmy in most cases, but there was no evidence of the tetraplasmy that would be expected in the case of mtDNA recombination.

Vision impairment is a significant problem in older Brazilians reinforcing the need to implement prevention of blindness programs for elderly people with emphasis on those without schooling.

Purpose Assess prevalence and causes of vision impairment among low–middle income school children in São Paulo. Methods Cluster sampling was used to obtain a random sample of children ages 11 to 14 years from public schools (grades 5–8) in three districts from June to November 2005. The examination included visual acuity testing, ocular motility, and examination of the external eye, anterior segment, and media. Cycloplegic refraction and fundus examination were performed in children with uncorrected visual acuity 20/40 or worse in either eye. A principal cause of visual impairment was determined for eyes with uncorrected visual acuity of 20/40 or worse. Results A total of 2825 children were enumerated and 2441 (86.4%) were examined. The prevalence of uncorrected, presenting, and best-corrected visual acuity 20/40 or worse in the better eye was 4.82%, 2.67%, and 0.41%, respectively. Spectacles were used by 144 (5.9%) children. Refractive error was a cause in 76.8% of children with visual impairment in one or both eyes; amblyopia, 11.4%; retinal disorders, 5.9%; other causes, 2.7%; and unexplained causes, 7.7%. Myopic visual impairment (spherical equivalent −0.50 D in one or both eyes) was not associated with age or grade level, but female sex was marginally significant (P = 0.070). Hyperopic visual impairment (+2.00 D or more) was not associated with age, grade level, or sex. Conclusions The prevalence of reduced vision in low–middle income urban São Paulo school children was low, most of it because of uncorrected refractive error. Cost-effective strategies are needed to address this easily treated cause of vision impairment.