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This abstract is assigned to session AOB Poster session2

Title	Ocular Features of Neuronal Ceroid Lipofuscinosis
Abstract Nr.	2029

Purpose	To describe the ocular features of patients with neuronal ceroid lipofuscinosis (CLN).
Methods	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.
Results	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,
Conclusion	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.

Authors 1

Last name	VERCRUYSSEN
Initials	JH
Department	Dept of Ophthalmology, Ghent University Hospital
City	Ghent

Authors 2

Last name	BAUWENS
Initials	M
Department	Ctr for Medical Genetics, Ghent University Hospital
City	Ghent

Authors 3

Last name	COPPIETERS
Initials	F
Department	Ctr for Medical Genetics, Ghent University Hospital
City	Ghent

Authors 4

Last name	DE VEUSTER
Initials	I
Department	Dept of Ophthalmology, Antwerp University Hospital
City	Wilrijk

Authors 5

Last name	MARNI
Initials	JF
Department	Div of Human Genetics, Children's Hospital of Philadelphia
City	Philadelphia

Authors 6

Last name	DE BAERE
Initials	E
Department	Ctr for Medical Genetics, Ghent University Hospital
City	Ghent

Authors 7

Last name	LEROY
Initials	BP
Department	Dept of Ophthalmology, Ghent University Hospital; Div of Ophthalmology, Children's Hospital of Philad
City	Ghent, Philadelphia