LEBERS HEREDITARY OPTIC NEUROPATHY (LHON)

Question 1

What is  LEBERS HEREDITARY OPTIC NEUROPATHY (LHON)?

Accepted Answer

rare
mitochondrial inheritance
mitochondrial DNA point mutations that affect the ND subunits of complex I [Baracca et al. 2005]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Leber-Optikusneuropathie, hereditäre

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 535000

Disease	LEBERS HEREDITARY OPTIC NEUROPATHY (LHON)
Synonym	LEBER OPTIC ATROPHY; OPTIC ATROPHY, LEBER TYPE
OMIM	535000 OMIM = Online Mendelian Inheritance of Men
Orphanet	104
Protein (UniProt)
Gene locus	mtDNA
ICD	H47.2
Summary	rare mitochondrial inheritance mitochondrial DNA point mutations that affect the ND subunits of complex I [Baracca et al. 2005]
Laboratory findings
Symptoms	ataxia blindness, visual loss, visual impairment cardiac arrhythmia, dysrhythmia dystonia ECG abnormalities [-] headache (severe, recurrent or occipital, migraine) myopathy neuropathy onset, adolescent onset, adulthood onset, childhood optic atrophy peripheral neuropathy tremor or twitching vision loss