View abstract

This abstract is assigned to session AOB and FRO E-Posters

Title	Case of Goldmann-Favre syndrome in a 6-year-old boy, complicated by macular choroidal neovascularization in both eyes, responding to two intravitreal injections of Lucentis in the right eye
Abstract Nr.	3019

Purpose	We report the case of a child presenting a Goldmann-Favre syndrome complicated by macular choroidal neovascularization (CNV) in both eyes. This case emphasises the importance of adequate interpretation of optical coherence tomography (OCT) and fluorescein angiography (FA) in case of retinal dystrophy with macular edema.
Methods	Single case report.
Results	A 6-year-old boy was referred to our clinic for a third opinion about a macular lesion in the left eye with a severe visual loss. Based on fundus examination, retinal microcystic degenerative lesions on OCT, full-field electroretinogram (ERG) and genetic analysis (NR2E3 gene), the diagnosis of Goldmann-Favre syndrome was made. Subsequently, a macular CNV appeared in the right eye, that responded well to two injections of Lucentis. The diagnosis of CNV in the left eye was made retrospectively, based on the right eye lesion, OCT and FA.
Conclusion	CNV may be a complication of Goldmann-Favre syndrome, one of the rarest vitreo-retinal dystrophies. An adequate interpretation of OCT and FA is critical to make the proper diagnosis, choroidal neovessels responding well to anti-VEGF agents.
Conflict of interest	No

Authors 1

Last name	LECOMTE
Initials	L
Department	Ophthalmology department, Cliniques Universitaires Saint-Luc
City	Woluwe-Saint-Lambert, Belgium

Authors 2

Last name	KOZYREFF
Initials	A
Department	Ophthalmology department, Cliniques Universitaires Saint-Luc
City	Woluwe-Saint-Lambert, Belgium

Authors 3

Last name	BOSCHI
Initials	A
Department	Ophthalmology department, Cliniques Universitaires Saint-Luc
City	Woluwe-Saint-Lambert, Belgium

Authors 4

Last name	REVENCU
Initials	N
Department	Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc
City	Woluwe-Saint-Lambert, Belgium

Authors 5

Last name	LEROY
Initials	BP
Department	Centrum Medische Genetica Gent, Universitair Ziekenhuis Gent
City	Gent, Belgium