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 language | English |
|---|---|
| Pages (from-to) | 271-277 |
| Number of pages | 7 |
| Journal | American Journal of Ophthalmology |
| Volume | 137 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 2004 |
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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 journal › Article
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TY - JOUR
T1 - Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy
AU - Sadun, Federico
AU - De Negri, Anna Maria
AU - Carelli, Valerio
AU - Salomao, Solange R.
AU - Berezovsky, Adriana
AU - Andrade, Rafael
AU - Moraes, Milton
AU - Passos, Angelo
AU - Belfort, Rubens
AU - Bastos Da Rosa, Arlon
AU - Quiros, Peter
AU - Sadun, Alfredo A.
PY - 2004/2
Y1 - 2004/2
N2 - • 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.
AB - • 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.
UR - http://www.scopus.com/inward/record.url?scp=10744227920&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=10744227920&partnerID=8YFLogxK
U2 - 10.1016/j.ajo.2003.08.010
DO - 10.1016/j.ajo.2003.08.010
M3 - Article
C2 - 14962416
AN - SCOPUS:10744227920
VL - 137
SP - 271
EP - 277
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
SN - 0002-9394
IS - 2
ER -