Diagnosis of inherited retinal dystrophies. Relevance of molecular genetic testing from the patient's perspective

Abstract

The diagnostic process of inherited retinal dystrophies (IRD) is impeded by their low prevalence and the variability of the clinical presentations; however, for patients avalid diagnosis is vital for future planning and evaluating the potential of an appropriate early treatment to delay disease progression. Aim of the current study was to outline the patients' journeys until they receive the final diagnosis. This should help uncover diagnostic shortcomings and highlight potential for improvement with respect to the use of genetic diagnostic testing. Data were collected by questionnaires and an online survey conducted by the self-help association PRO RETINA Deutschland e. V. among patients with IRD. Data were analyzed by descriptive statistics. From 15 March to 22 April 2021, 183 questionnaires were completed and 42online interviews conducted. The surveyed population consisted of 48% female patients, mean age was 55years and first symptoms occurred at amean age of 22years. On average about 14years passed from first symptoms until final diagnosis. Only 66% of the patients reported that they had received at least 1 diagnostic genetic testing; less than half of the patients (47%) received genetic counseling. The huge majority of patients (85%) would be interested in gene therapy. From the perspective of affected patients, ashortening of the time to diagnosis, the use of molecular genetic testing and the offer of genetic counseling are important to improve patient care for patients with IRD.