Abstract
Purpose :
Inherited retinal diseases are a heterogeneous group of disorders in which an underlying inherited gene defect leads to impaired retinal function. They are among the most common causes of debilitating low vision and blindness in children and young adults. Major advances in research towards treatment have been made in recent years, thereby increasing the need for extensive organized registries of phenotypic and genetic information. The purpose of this study was to create a clinical and molecular overview, linked with biological material, of patients with inherited retinal disease in Norway.
Methods :
850 patients with a primary diagnosis of inherited retinal disease were included in the study. Available data included; clinical diagnosis, age, sex, heredity, visual acuity, ultra-wide field fundus images, autofluorescence and electroretinography. Genetic data (APEX mutation chip, Sanger or NGS) were available in 620 patients. Data from the Norwegian population registry was included (ICD-10: H35.5). The registry was established using Medinsight® database solution. The biobank of inherited retinal disease was established after ethics committee approval.
Results :
Among the 850 patients 37 different diagnoses was recorded. The majority of patients had retinitis pigmentosa (52 %, N=436), Stargardt’s disease (7%, N=55),or Lebers congenital amaurosis (5%, N=42). The complete genetic diagnosis was found for 15% of patients (n=90). The most common genes found in the genetic analysis were; USH2A, ABCA4 and BEST1. Biological material from 490 patients and 300 parents of patients was included in the biobank of inherited retinal diseases.
Conclusions :
This study successfully created a clinical and molecular overview linked with biological material of known patients with inherited retinal disease at Oslo University Hospital. The total number of patients with a complete genetic diagnosis was low (15%). For customized individually tailored gene therapies the genetic diagnosis is essential. By utilizing the registry and biobank the genetic content of the database will in the coming years be further expanded to support not only the treatment selection, but also the genetic counselling of young families.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.