Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families
- PMID: 1302143
Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families
Abstract
Leber's hereditary optic neuropathy (LHON) is a genetic maternally transmitted disorder characterised by sudden bilateral loss of vision. The discovery of at least one mitochondrial DNA mutation associated with the disease has provided the basis for a molecular diagnosis in about 50% of families with LHON. We present a brief review of the clinical and molecular genetic aspects of LHON along with our results in 13 patients.
Similar articles
-
Leber's hereditary optic neuropathy.J Med Assoc Thai. 1999 Oct;82(10):1051-5. J Med Assoc Thai. 1999. PMID: 10561972 Review.
-
Mitochondrial DNA analysis of Leber's hereditary optic neuropathy.Jpn J Ophthalmol. 1991;35(1):102-6. Jpn J Ophthalmol. 1991. PMID: 1895564
-
Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.Ger J Ophthalmol. 1996 Jul;5(4):233-40. Ger J Ophthalmol. 1996. PMID: 8854108
-
Nonfamilial and unusual cases of Leber's hereditary optic neuropathy identified by mitochondrial DNA analysis.Jpn J Ophthalmol. 1992;36(2):197-204. Jpn J Ophthalmol. 1992. PMID: 1513067
-
[Clinical manifestation and molecular identification of patients with Leber's hereditary optic neuropathy in a national reference center for neuro-ophthalmology in Cuba].Rev Neurol. 1999 Sep 1-15;29(5):408-15. Rev Neurol. 1999. PMID: 10584242 Review. Spanish.