Quality of life in patients with leber hereditary optic neuropathy.
OBJECTIVE
Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial optic neuropathy characterized by bilateral, severe loss of central vision. In this study, the first formal assessment was conducted of visual disability in affected and unaffected individuals from molecularly confirmed LHON pedigrees.


METHODS
Four hundred two LHON carriers--196 affected and 206 unaffected--from 125 genealogically distinct pedigrees were prospectively interviewed using the well-validated visual function index (VF-14) questionnaire: m.3460G>A (n = 71), m.11778G>A (n = 270), and m.14484T>C (n = 61).


RESULTS
The mean age of onset of visual loss was 27.9 years (SD, 14.9) and mean disease duration was 15.5 years (SD, 15.4), with 74.5% of the affected subjects being men. The mean VF-14 score was 25.1 (SD, 20.8) in the affected patients, compared with 97.3 (SD, 7.1) in the unaffected carriers. Within the affected group, VF-14 score did not worsen with increasing disease duration and individuals with the m.14484T>C mutation had higher VF-14 scores compared with those in the m.3460G>A and m.11778G>A groups. Reading small print and reading a newspaper or book were the two VF-14 items that presented the greatest difficulty.


CONCLUSIONS
LHON has a severe negative impact on quality of life and has the worst VF-14 score when compared with other previously studied ophthalmic disorders. However, affected LHON carriers can be reassured that their level of visual impairment is unlikely to progress with time. The VF-14 questionnaire will be a useful tool for assessing the natural history of LHON and measuring outcome in future treatment trials.
Kirkman
Matthew Anthony
MA
Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
Korsten
Alex
A
Leonhardt
Miriam
M
Dimitriadis
Konstantin
K
De Coo
Ireneaus F
IF
Klopstock
Thomas
T
Griffiths
Philip G
PG
Hudson
Gavin
G
Chinnery
Patrick F
PF
Yu-Wai-Man
Patrick
P
D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001766:Blindness / Q000523:psychology; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics / Q000523:psychology*; D010375:Pedigree; D011446:Prospective Studies; D011788:Quality of Life / Q000523:psychology*; D018434:Sickness Impact Profile; D011795:Surveys and Questionnaires; D055815:Young Adult