The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations—A Case-Based Review

Author:

Conway Marcus P.1,Stephenson Kirk A. J.1ORCID,Zhu Julia1ORCID,Dockery Adrian1ORCID,Burke Tomas1,Turner Jacqueline1,Le Francois Thai2,O’Byrne James J.1,Keegan David J.1

Affiliation:

1. Mater Clinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, D07 AX57 Dublin, Ireland

2. Eye Clinic Liasson Officer, Vision Ireland, Mater Misericordiae University Hospital, D07 AX57 Dublin, Ireland

Abstract

(1) Background: Inherited retinal degenertions are rare conditions which may have a dramatic impact on the daily life of those affected and how they interact with their environment. Coordination of clinical services via an ophthalmic genetics multidisciplinary team (OG-MDT) allows better efficiency of time and resources to reach diagnoses and facilitate patient needs. (2) Methods: This clinical case series was conducted by a retrospective review of patient records for patients enrolled in the Target 5000 programme and managed by the OG-MDT, at the Mater Hospital Dublin, Ireland (n = 865) (3) Results: Herein we describe clinical cases and how the use of the OG-MDT optimizes care for isolated and syndromic IRD pedigrees. (4) Conclusions: this paper demonstrates the benefits of an OG-MDT to patients with IRDs resulting in the holistic resolution of complex and syndromic cases. Furthermore, we demonstrate that this format can be adopted/developed by similar centres around the world, bringing with it the myriad benefits.

Funder

Fighting Blindness

Publisher

MDPI AG

Subject

Paleontology,Space and Planetary Science,General Biochemistry, Genetics and Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference49 articles.

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