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Type de présentation	E-poster
Titre	Beyond mitochondrial DNA: a POLG-related LHON phenotype

But	To describe a patient with a LHON phenotype associated with POLG variants.
Méthodes	Comprehensive ophthalmic examination, retinal imaging, visual field and colour vision testing, brain MRI, biochemical and genetic investigations were performed.
Résultats	A 25-year-old woman presented with subacute bilateral visual loss progressing over four months to counting fingers in both eyes. Visual fields showed bilateral central scotomata. Colour vision was absent. OCT demonstrated progressive thinning of the ganglion cell layer and temporal retinal nerve fibre layer, consistent with optic atrophy. Fundus examination revealed bilateral temporal optic disc pallor. Brain MRI showed no abnormalities explaining the visual loss, although nonspecific white matter changes greater than expected for age were present. Four months later, progressive sensorineural hearing loss developed. Mitochondrial DNA sequencing, biotinidase activity, anti-MOG, anti-AQP4 and paraneoplastic antibody testing were negative. Whole-exome sequencing identified two POLG variants: c.752C>T, p.(Thr251Ile) and c.1760C>T, p.(Pro587Leu).
Conclusion	POLG-related disease may present as a classic LHON phenotype. Nuclear mitochondrial genes, including POLG, should therefore be considered in patients with suspected LHON, particularly when extraocular features such as hearing loss are present.
Conflit d'intérêt	Non

Auteurs 1

Nom	BERGHMANS
Initiales	L
Institut	Department of Ophthalmology, Ghent University Hospital
Ville	Ghent

Auteurs 2

Nom	DE BAERE
Initiales	E
Institut	Department of Medical Genetics, Ghent University Hospital
Ville	Ghent

Auteurs 3

Nom	POPPE
Initiales	B
Institut	Department of Medical Genetics, Ghent University Hospital
Ville	Ghent

Auteurs 4

Nom	HEMELSOET
Initiales	D
Institut	Department of Neurology, Ghent University Hospital
Ville	Ghent

Auteurs 5

Nom	VAN DE SOMPELE
Initiales	S
Institut	Department of Medical Genetics, Ghent University Hospital
Ville	Ghent

Auteurs 6

Nom	DE ZAEYTIJD
Initiales	J
Institut	Department of Ophthalmology, Ghent University Hospital
Ville	Ghent