Medicinski vjesnik, Vol. 43 No. (1-4), 2011.
Recenzija, Prikaz slučaja
A case report of a Lhon patient
Mario Bradvica
Dinko Pavlinić
Jasenka Wagner
Ivanka Štenc Bradvica
Sažetak
Leber’s hereditary optic neuroretinopathy (LHON) is manifested by bilateral acute or subacute loss of the central vision. LHON is linked to several point mutations of the mitochondrial DNA and is maternally inherited. The patient is a male, 44 years old, who manifested LHON at the age of 14. The patient’s two brothers, three sisters, and their children have no signs of LHON. Ophthalmic examination confirmed LHON at the age of 42 and 44, while LHON 3460 G>A, 11778 G>A and 14484 T>C mitochondrial DNA mutations have not been detected.
Ključne riječi
LHON; mitochondrial DNA mutation
Hrčak ID:
198053
URI
Datum izdavanja:
1.12.2011.
Posjeta: 1.887 *