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This abstract is assigned to session Free Papers Session 3

Presentation preference	Oral presentation
Title	Inherited retinal dystrophy gene panel in posterior uveitis with dystrophic features.

Purpose	To evaluate the presence of class 3, 4 and 5 genetic variants in inherited retinal dystrophy (IRD) genes in a cohort of patients with posterior uveitis and dystrophic features (PUD).
Methods	Multicentric, retrospective study of PUD cases diagnosed between January 2012 and February 2022. General and ophthalmological history, complete ophthalmological examination and IRD gene panel results were analyzed in every patient. Three PUD categories were defined: idiopathic posterior uveitis with retinitis pigmentosa-like features (PURPL), idiopathic posterior uveitis with other dystrophic features (PUOD) and posterior uveitis with established ophthalmological or systemic etiology and dystrophic features (POSED).
Results	We included 10 patients (6 female). Mean age at inclusion was 49.1 years (range, 26 – 68 years). Three patients demonstrated class 4 or class 5 variants in IRD genes that could account for their ocular phenotype. Six patients carried variants that could not explain their phenotype. One patient had a negative panel result. IRD gene panel analysis allowed diagnosis refinement in 3/10 (30%) patients in our PUD cohort. All 3 patients belonged to the PURPL subgroup and final diagnoses for each patient were EYS-related autosomal recessive retinitis pigmentosa (ARRP), CRB1-related ARRP and RHO-related autosomal dominant retinitis pigmentosa (ADRP), respectively.
Conclusion	Every PURPL patient should benefit from gene panel testing in order not to overlook undiagnosed IRD.
Conflict of interest	No

Authors 1

Last name	ABRAMOWICZ
Initials of first name(s)	S
Department	Ophthalmology - CHU Saint-Pierre & CHU Brugmann
City	Brussels
Country	Belgium

Authors 2

Last name	DRAGANOVA
Initials of first name(s)	D
Department	Ophthalmology - CHU Saint-Pierre & CHU Brugmann
City	Brussels
Country	Belgium

Authors 3

Last name	MEUNIER
Initials of first name(s)	A
Department	Ophthalmology - CHU Saint-Pierre
City	Brussels
Country	Belgium

Authors 4

Last name	POSTELMANS
Initials of first name(s)	L
Department	Ophthalmology - CHU Brugmann
City	Brussels
Country	Belgium

Authors 5

Last name	WILLERMAIN
Initials of first name(s)	F
Department	Ophthalmology - CHU Saint-Pierre & CHU Brugmann
City	Brussels
Country	Belgium