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

https://hrcak.srce.hr/198053

Datum izdavanja:

1.12.2011.

Podaci na drugim jezicima: hrvatski

Posjeta: 1.311 *