Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy

Federico Sadun, Anna Maria De Negri, Valerio Carelli, Solange R. Salomao, Adriana Berezovsky, Rafael Andrade, Milton Moraes, Angelo Passos, Rubens Belfort, Arlon Bastos Da Rosa, Peter Quiros, Alfredo A. Sadun

Research output: Contribution to journalArticle

Abstract

• PURPOSE: To report the ophthalmologic characteristics of a newly identified seven-generation pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy consisting of 328 living individuals, 111 of whom are maternally related. • DESIGN: Observational population cohort study. • METHODS: This prospective study of a large Brazilian Leber hereditary optic neuropathy pedigree was carried out as a field investigation in Brazil. We describe the ophthalmologic findings of 192 eyes from 96 maternally related individuals of this pedigree. Spouses were used as control subjects. We conducted comprehensive neuro-ophthalmologic examinations with psychophysical tests, Humphrey visual fields, and fundus photographs. We also correlated the ophthalmologic findings with the previously published epidemiologic assessment of risk factors. • RESULTS: We examined 76 carriers and 20 affected individuals. The affected individuals showed severe disease with a mean visual acuity of 2.04 logarithm of the minimal angle of resolution and without evidence of recovery. All the affected individuals showed diffuse optic atrophy with a cup-to-disk ratio greater than 0.5 in 55% of cases. Moreover, among Affected individuals, smokers had a poorer visual acuity (P = .002). Among carriers there were several subclinical abnormalities, including microangiopathy, swelling of nerve fibers, and visual field abnormalities that did not correlate with tobacco or alcohol consumption. • CONCLUSIONS: Our results demonstrate a significant influence of environmental risk factors, particularly smoking, for developing Leber hereditary optic neuropathy and for the severity of its clinical expression. However, smoking did not correlate with the subclinical abnormalities detected in carriers. Moreover, subclinical abnormalities were equally distributed between gender.

Original languageEnglish
Pages (from-to)271-277
Number of pages7
JournalAmerican Journal of Ophthalmology
Volume137
Issue number2
DOIs
Publication statusPublished - Feb 2004

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Leber's Hereditary Optic Atrophy
Pedigree
Visual Acuity
Smoking
Optic Atrophy
Visual Field Tests
Tobacco Use
Visual Fields
Spouses
Nerve Fibers
Alcohol Drinking
Brazil
Cohort Studies
Prospective Studies
Population

ASJC Scopus subject areas

  • Ophthalmology

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Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. / Sadun, Federico; De Negri, Anna Maria; Carelli, Valerio; Salomao, Solange R.; Berezovsky, Adriana; Andrade, Rafael; Moraes, Milton; Passos, Angelo; Belfort, Rubens; Bastos Da Rosa, Arlon; Quiros, Peter; Sadun, Alfredo A.

In: American Journal of Ophthalmology, Vol. 137, No. 2, 02.2004, p. 271-277.

Research output: Contribution to journalArticle

Sadun, F, De Negri, AM, Carelli, V, Salomao, SR, Berezovsky, A, Andrade, R, Moraes, M, Passos, A, Belfort, R, Bastos Da Rosa, A, Quiros, P & Sadun, AA 2004, 'Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy', American Journal of Ophthalmology, vol. 137, no. 2, pp. 271-277. https://doi.org/10.1016/j.ajo.2003.08.010
Sadun, Federico ; De Negri, Anna Maria ; Carelli, Valerio ; Salomao, Solange R. ; Berezovsky, Adriana ; Andrade, Rafael ; Moraes, Milton ; Passos, Angelo ; Belfort, Rubens ; Bastos Da Rosa, Arlon ; Quiros, Peter ; Sadun, Alfredo A. / Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. In: American Journal of Ophthalmology. 2004 ; Vol. 137, No. 2. pp. 271-277.
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AU - Andrade, Rafael

AU - Moraes, Milton

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