View abstract

This abstract is assigned to session Poster session

Title	Norrie disease. Phenotypic characteristics, genetic evaluation and results of early surgical treatment.
Abstract Nr.	P122

Purpose	Norrie disease (ND) is a blinding ocular disorder with an X-linked recessive mode of inheritance. The aim of this retrospective study is to highlight the recognizable ocular phenotype of the disease, to report the results of the genetic evaluation, and to discuss outcomes of the surgical procedures performed for some patients.
Methods	We retrospectively reviewed 17 medical records of patients clinically diagnosed with ND from 1996 through 2013. The anatomical evolution, visual function, and results of the genetic study are described.
Results	Of the 17 patients included, at least 8 had congenital blindness. A severe ocular complication occured in 47% of the eyes. Among the 10 eyes (7 patients) treated with vitrectomy in early infancy, only 2 (20%) developed a severe complication. A mutation or deletion in the NDP gene has been confirmed in 15 cases. Our results confirmed the severity of the disease, since nearly half of the patients developed severe and / or painful ocular complications. Although the follow-up period is still limited for some patients, our results suggest that early surgical treatment seem to be effective to prevent or delay the anatomical and visual deterioration of the disease.
Conclusion	Although early surgical procedures for ND represent a difficult challenge, our constatations concerning the outcome of early surgical treatment seem to be in line with recent recommendations.

Authors 1

Last name	BEBY
Initials	F
Department	Department of ophthalmology, Queen Fabiola Children’s University Hospital (HUDERF), ULB
City	Brussels

Authors 2

Last name	ROULEZ
Initials	F
Department	Department of ophthalmology, HUDERF, ULB
City	Brussels

Authors 3

Last name	CLAES
Initials	C
Department	Department of ophthalmology, Sint-Augustinus Hospital
City	Antwerp

Authors 4

Last name	CHRISTOPHE
Initials	C
Department	Department of radiology, HUDERF, ULB
City	Brussels

Authors 5

Last name	DEPASSE
Initials	F
Department	Department of ophthalmology, Erasme University Hospital, ULB
City	Brussels

Authors 6

Last name	MEIRE
Initials	F
Department	Department of ophthalmology, HUDERF, ULB
City	Brussels