ABSTRACT
PURPOSE: To study the optic nerve head (ONH) morphology of patients with Leber's hereditary optic neuropathy (LHON) in a large family from Brazil carrying the 11778/ND4 mutation and in a case series of unrelated Italian families bearing different mitochondrial DNA (mtDNA) pathogenic mutations. METHODS: Enrolled in the study were 15 LHON-affected patients (LHON-affected) and 45 LHON unaffected mutation carriers (LHON carriers) belonging to the previously reported Brazilian SOA-BR LHON pedigree and 56 LHON-affected and 101 LHON carriers from 45 unrelated LHON Italian pedigrees molecularly defined. The LHON-affected were subgrouped according to the extent of visual recovery. All individuals underwent optic nerve head (ONH) analysis by optical coherence tomography. RESULTS: In the Brazilian sample, the mean optic disc area was significantly larger in LHON carriers than in the control group (P=0.002). In the Italian sample, the mean optic disc area and vertical disc diameter were significantly higher in LHON carriers than in both LHON-affected (respectively, P=0.008 and P<0.001) and control subjects (P<0.001 in both cases). The LHON-affected with visual recovery had a significantly larger vertical disc diameter when compared with those without visual recovery (P=0.03). CONCLUSIONS: The results, revealing that the ONH size is larger in LHON carriers than in LHON-affected, suggest a protective role for this anatomic trait. Such a hypothesis is reinforced by the observation that, among the LHON-affected, larger discs correlated with visual recovery and better visual outcome. The findings may be relevant for prognosis and provide a mechanism for identifying nuclear-modifying genes implicated in the variability of penetrance in LHON.
Subject(s)
Optic Atrophy, Hereditary, Leber/diagnosis , Optic Disk/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Child , DNA Mutational Analysis , DNA, Mitochondrial/genetics , Disease Progression , Female , Heterozygote , Humans , Male , Middle Aged , Optic Atrophy, Hereditary, Leber/genetics , Pedigree , Penetrance , Prognosis , Tomography, Optical CoherenceABSTRACT
PURPOSE: Evaluate the visual performance of the AcrySof ReSTOR intraocular lens (IOL) and compare it with the monofocal SA60AT IOL. DESIGN: Prospective, nonrandomized, clinical trial. METHODS: Forty patients (80 eyes) from the Federal University of São Paulo were enrolled in two groups. Twenty-five patients were assigned to the ReSTOR group and 15 patients to the monofocal group. Inclusion criteria were corneal astigmatism <1.0 diopter, potential acuity meter >0.2 logMAR units, and no associated ocular diseases. Parameters analyzed included distance uncorrected and best-corrected visual acuity, near uncorrected and distance corrected visual acuity, intermediate visual acuity, contrast sensitivity (Pelli-Robson chart), stereopsis (Titmus test), reading speed, wavefront measurement (LADARWave aberrometer), and a quality-of-life questionnaire. main outcome measure: Distance and near uncorrected and best distance corrected visual acuity, contrast sensitivity, and reading speed. RESULTS: Distance uncorrected and best-corrected visual acuity in the ReSTOR group were not statistically different from the monofocal group (P = .66). Near uncorrected and distance corrected visual acuity were statistically better in the ReSTOR group than the monofocal group (0.16 +/- 0.13 vs 0.62 +/- 0.09, P < .001, and 0.14 +/- 0.12 vs 0.62 +/- 0.07, P < .001, respectively). The ReSTOR group demonstrated less spherical aberrations compared with the monofocal group (P < .001). Monocular photopic contrast sensitivity was statistically lower in the ReSTOR group (P < .001). Stereopsis and reading speed were not statistically different between the groups. CONCLUSION: The AcrySof ReSTOR IOL provides a satisfactory full range of vision and achieves a more satisfactory quality of life when compared with the monofocal SA60AT IOL, but with lower contrast sensitivity.
