| 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 |
