NDLI: Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber's hereditary optic neuropathy.

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Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber's hereditary optic neuropathy.

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Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber's hereditary optic neuropathy.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Sacai, Paula Yuri Salomão, Solange Rios Carelli, Valerio Pereira, Josenilson Martins Belfort, Rubens Sadun, Alfredo Arrigo Berezovsky, Adriana
Spatial Coverage	Brazil
Description	Country affiliation: Brazil Author Affiliation: Sacai PY ( Departamento de Oftalmologia, Universidade Federal de São Paulo, UNIFESP, R. Botucatu 822, São Paulo, SP, 04023-062, Brazil.)
Abstract	To investigate pattern-reversal visual evoked potentials (PRVEP) in asymptomatic maternally and non-maternally related members from a large Brazilian 11778/ND4 LHON pedigree. Transient PRVEP for check sizes 15' and 60' were recorded from asymptomatic mutation carriers and non-mutant descendants of affected/non-affected males, all with best-corrected visual acuity of 20/20. A control group of spouses (off-pedigree) was also included. Parameters of N75, P100 and N135 latencies (ms) and N75-P100 peak-to-peak amplitude (µV) as well as temporal dispersion (latency of N135-latency of N75) were determined. Longitudinal testing was obtained in a subseries of carriers in three annual consecutive visits. We tested 48 asymptomatic mutation carriers, 19 descendants of affected males, 9 descendants of non-affected males and 27 off-pedigrees, all of the latter being non-mutant. All non-mutant male descendants did not differ from off-pedigree controls. Statistically prolonged P100 latencies were found in mutation carriers (P = 0.0143) when compared with off-pedigrees for check sizes 15', as well as significantly larger temporal dispersions for both check size 15' (P = 0.0012) and check size 60' (P = 0.0271). Serial testing in 15 mutation carriers disclosed prolonged P100 latencies and larger temporal dispersion that did not change over time. Subclinical PRVEP abnormalities were detected in this large group of asymptomatic carriers of the 11778/ND4 LHON mutation from the same family, confirming and extending previous psychophysical and structural findings of a selective involvement of the parvocellular pathway. PRVEP is a useful test to characterize and monitor visual dysfunction in this devastating disease.
File Format	HTM / HTML
ISSN	00124486
Issue Number	2
Volume Number	121
e-ISSN	15732622
Journal	Documenta Ophthalmologica
Language	English
Publisher	Springer
Publisher Date	2010-10-01
Publisher Place	Netherlands
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Ophthalmology Evoked Potentials, Visual Physiology Mitochondrial Diseases Physiopathology Optic Atrophy, Hereditary, Leber Optic Nerve Retinal Ganglion Cells Adolescent Adult Aged Brazil Dna, Mitochondrial Genetics Female Genetic Predisposition To Disease Humans Male Middle Aged Mutation Nadh Dehydrogenase Pedigree Visual Acuity Young Adult Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Physiology (medical) Sensory Systems

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