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Deze abstract is toegekend aan sessie AOB Poster session2

Titel	Ocular Features of Neuronal Ceroid Lipofuscinosis
Abstract Nr.	2029

Doel	To describe the ocular features of patients with neuronal ceroid lipofuscinosis (CLN).
Methodes	A total of 6 NCL patients underwent a complete ophthalmological examination. An ISCEV-standard full-field flash electroretinography (ERG) was performed in 3 of them.
Resultaten	A 10-year-old girl with molecularly proven NCL2 presented with an extreme retinal dystrophy and complete optic atrophy. Two sisters had molecularly proven NCL3, one with diffuse retinal dystrophy at the age of 7, the 5-year-old sister had presymptomatic ERG abnormalities and very mild retinopathy. One 7-year-old girl with molecularly confirmed NCL7, showed maculopathy with mild rod involvement. A 17-year-old man and an unrelated 8-year-old girl with clinical Batten disease, suffered from a generalised retinopathy with maculopathy,
Conclusie	Ocular features in NCL are those of a retinal dystrophy, which often commences with macular abnormalities. The retinal dystrophy is of very different severity, ranging from a clinical maculopathy to an extreme generalised retinal dystrophy with optic atrophy. Signs of both outer and inner retinal disease can be found.

Auteur 1

Naam	VERCRUYSSEN
Initialen	JH
Instituut	Dept of Ophthalmology, Ghent University Hospital
Stad	Ghent

Auteur 2

Naam	BAUWENS
Initialen	M
Instituut	Ctr for Medical Genetics, Ghent University Hospital
Stad	Ghent

Auteur 3

Naam	COPPIETERS
Initialen	F
Instituut	Ctr for Medical Genetics, Ghent University Hospital
Stad	Ghent

Auteur 4

Naam	DE VEUSTER
Initialen	I
Instituut	Dept of Ophthalmology, Antwerp University Hospital
Stad	Wilrijk

Auteur 5

Naam	MARNI
Initialen	JF
Instituut	Div of Human Genetics, Children's Hospital of Philadelphia
Stad	Philadelphia

Auteur 6

Naam	DE BAERE
Initialen	E
Instituut	Ctr for Medical Genetics, Ghent University Hospital
Stad	Ghent

Auteur 7

Naam	LEROY
Initialen	BP
Instituut	Dept of Ophthalmology, Ghent University Hospital; Div of Ophthalmology, Children's Hospital of Philad
Stad	Ghent, Philadelphia