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

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.

Keywords: inherited retinal degenerations; multidisciplinary team; ophthalmic genetics; syndromic retinopathy.

Figure 1

A graphical representation of the 12 most frequent genetic results obtained as a result of genomic testing in patients suspected to have an IRD at the Mater Hospital Target 5000 clinic.

Figure 2

A graphical breakdown of the Target 5000 patient database demographics by age and gender. Total patients (n = 865). Unaffected family members and those with carrier status (n = 159).

Figure 3

Diagnostic ophthalmic imaging for cases 1–4 with Optos ultra-widefield colour imaging, autofluorescence and OCT. Case 3 images available for right eye only due to corneal opacity. No images available for case 5.