Influence of Mutation Type on Clinical Expression of Leber Hereditary Optic Neuropathy - 19/08/11
, Dinanda N. Kolbach, MD, PhD b, Rene F. de Coo, MD, PhD d, Astrid S. Plomp, MD e, f, Noel J. Bauer, MD, PhD g, Hubertus J. Smeets, PhD a, c, Christine E.M. de Die-Smulders, MD, PhD a, c
Inquiries to Liesbeth Spruijt, MD, Maastricht University, Department of Clinical Genetics/Genetics and Cell Biology, Universiteitssingel 50, Postvak 16, P.O. Box 616, 6200 MD Maastricht, The NetherlandsRésumé |
Purpose |
The aim of this research was to determine the molecular factors of influence on the clinical expression of Leber hereditary optic neuropathy (LHON), which might aid in counseling LHON patients and families. The prevalence of LHON in the Dutch population was determined.
Design |
Observational, retrospective population cohort study.
Methods |
The clinical characteristics of LHON patients of 25 families, previously described in 1963, were reevaluated. The mutation and haplotype were determined in the DNA of one affected LHON patient per family. The genotype of their relatives could be deducted, enabling us to evaluate retrospectively the genotype-phenotype correlation. The prevalence of LHON was determined on the basis of anamnestic evaluation of patients in 1963 and by using population registers of that period.
Results |
The LHON mutation does not influence disease penetrance (50% in male subjects; 10% to 20% in female subjects). More than half of the patients with the 14484 mutation exhibit a partial recovery of vision, regardless of the acuteness of disease onset (P = .001), whereas only 22% of the 11778 carriers and 15.4% of the 3460 carriers recovered. The recovery did not take place within the first year after onset and was uncommon after four years. The onset of LHON is in general very acute but might be more gradual in 11778 carriers and in children. The calculated prevalence of LHON in the Dutch population (1/39,000) is very likely an underestimation caused by a selection bias of familial cases in the original study.
Conclusions |
The LHON genotype influences the recovery of vision and disease onset but is unrelated to age, acuteness of onset, or gender. The genotype does not influence disease penetrance. Children might exhibit a slower onset of disease.
Le texte complet de cet article est disponible en PDF.Plan
| Supported in part by The Netherlands Society for Ophthalmologic Research (SOON), The Netherlands Society for Prevention of Blindness (ANVVB), and the EU-FP6 STREP MITOCIRCLE. |
Vol 141 - N° 4
P. 676 - avril 2006 Retour au numéro
Article précédent
- Marx Line: Fluorescein Staining Line on the Inner Lid as Indicator of Meibomian Gland Function
- Masahiko Yamaguchi, Miki Kutsuna, Toshihiko Uno, Xiaodong Zheng, Toshio Kodama, Yuichi Ohashi
- Bilateral Lateral Rectus Recession Versus Unilateral Recess-Resect Procedure for Exotropia With a Dominant Eye
- Jin Wook Jeoung, Min Joung Lee, Jeong-Min Hwang
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?