Abstract bekijken

Deze abstract is toegekend aan sessies
Type presentatieE-poster
TitelBeyond mitochondrial DNA: a POLG-related LHON phenotype
DoelTo describe a patient with a LHON phenotype associated with POLG variants.
MethodesComprehensive ophthalmic examination, retinal imaging, visual field and colour vision testing, brain MRI, biochemical and genetic investigations were performed.
ResultatenA 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).
ConclusiePOLG-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.
BelangenverstrengelingNee
Auteurs 1
NaamBERGHMANS
InitialenL
InstituutDepartment of Ophthalmology, Ghent University Hospital
StadGhent
Auteurs 2
NaamDE BAERE
InitialenE
InstituutDepartment of Medical Genetics, Ghent University Hospital
StadGhent
Auteurs 3
NaamPOPPE
InitialenB
InstituutDepartment of Medical Genetics, Ghent University Hospital
StadGhent
Auteurs 4
NaamHEMELSOET
InitialenD
InstituutDepartment of Neurology, Ghent University Hospital
StadGhent
Auteurs 5
NaamVAN DE SOMPELE
InitialenS
InstituutDepartment of Medical Genetics, Ghent University Hospital
StadGhent
Auteurs 6
NaamDE ZAEYTIJD
InitialenJ
InstituutDepartment of Ophthalmology, Ghent University Hospital
StadGhent
top ^