Inherited retinal diseases the patient journey – Insight News

Assessment of viable retinal cells is made by combining the information derived from the clinical assessment including BCVA, OCT, visual field assessment, visual electrophysiology (including full field scotopic threshold testing and patient reported outcomes). The assessment will include a combination of all the investigations, and this will vary from patient to patient.

IRD management is similar to other complex conditions. The management around this process is critical to ensure that patients receive the appropriate ophthalmic and genetic advice.56-58Patients are best managed in a multi-disciplinary clinic with ophthalmologists experienced in IRD diagnostic steps and management, and with access to clinical geneticists and genetic counsellor expertise

The four steps outlined in this review will lead to improved patient care with streamlined ophthalmic diagnosis, molecular diagnosis and counselling, management of visual dysfunction and preparation for clinical trials and therapies.

The complexity of IRDs requires input from both ophthalmology and clinical genetics.44 The benefits of modern genetic diagnostics and counselling supports the introduction of equitable genetic testing for patients with presumed genetically-caused retinal diseases.5

NOTE: Some of the material has been adapted from the RANZCO Guidelines for the assessment and management of patients with inherited retinal diseases, which Profs Grigg and Jamieson co-authored with seven other experts.

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Inherited retinal diseases the patient journey - Insight News