Clinical characteristics, genetic determinants and epidemiology of inherited retinal diseases in Northern Finland
Thesis event information
Date and time of the thesis defence
Place of the thesis defence
F202
Topic of the dissertation
Clinical characteristics, genetic determinants and epidemiology of inherited retinal diseases in Northern Finland
Doctoral candidate
M.D. Laura Lähteenoja
Faculty and unit
University of Oulu Graduate School, Faculty of Medicine, Research Unit of Clinical Medicine
Subject of study
Clinical genetics and ophthalmology
Opponent
Docent Joni Turunen, HUS, Eye Hospital and University of Helsinki
Custos
Docent Elisa Rahikkala, University of Oulu, Research Unit of Clinical Medicine
Inherited retinal disease and several of its subtypes are more common in the Northern Finnish population than in many other populations
Inherited retinal disease (IRD) is the most common cause of visual impairment among working-age individuals both in Finland and internationally. The disease results from genetic mutations that affect proteins essential for the function of retinal cells in the eye. Currently, more than 400 disease-causing genes have been identified as underlying IRD, making it one of the most genetically diverse disorders in humans. This genetic variability is also reflected in a wide clinical spectrum.
The prevalence of IRD varies across populations, but it is estimated to affect approximately one in 2,000–4,000 individuals. The disease has a significant impact on the quality of life of patients and their families. At present, there is no widely available treatment, and disease progression can rarely be halted. In the future, gene therapies are expected to offer new treatment options for IRD in Finland.
In a retrospective registry study, we compiled data from 582 patients diagnosed with IRD at Oulu University Hospital between 1996 and 2023. In addition, we recruited patients with familial exudative vitreoretinopathy (FEVR) and IRD caused by CEP78 gene variants for more detailed investigations.
Our findings showed that in Northern Finland, certain IRD subtypes, such as Usher syndrome types 1 and 3, retinoschisis, and choroideremia, were more prevalent than internationally or in other Nordic countries. To our knowledge, this is the first published prevalence estimate based on Finnish population data. In our study, more than half of the identified genetic variants were enriched in the Finnish population, highlighting its uniqueness. We identified a Finnish-enriched FZD4 gene variant associated with FEVR, which caused variable severity of the disease, and we examined the phenotypic spectrum caused by CEP78 gene variants.
We hope that the results of this research will contribute to uncovering unknown genetic causes, developing treatment options, and assessing healthcare resource needs for this patient group in the future.
The prevalence of IRD varies across populations, but it is estimated to affect approximately one in 2,000–4,000 individuals. The disease has a significant impact on the quality of life of patients and their families. At present, there is no widely available treatment, and disease progression can rarely be halted. In the future, gene therapies are expected to offer new treatment options for IRD in Finland.
In a retrospective registry study, we compiled data from 582 patients diagnosed with IRD at Oulu University Hospital between 1996 and 2023. In addition, we recruited patients with familial exudative vitreoretinopathy (FEVR) and IRD caused by CEP78 gene variants for more detailed investigations.
Our findings showed that in Northern Finland, certain IRD subtypes, such as Usher syndrome types 1 and 3, retinoschisis, and choroideremia, were more prevalent than internationally or in other Nordic countries. To our knowledge, this is the first published prevalence estimate based on Finnish population data. In our study, more than half of the identified genetic variants were enriched in the Finnish population, highlighting its uniqueness. We identified a Finnish-enriched FZD4 gene variant associated with FEVR, which caused variable severity of the disease, and we examined the phenotypic spectrum caused by CEP78 gene variants.
We hope that the results of this research will contribute to uncovering unknown genetic causes, developing treatment options, and assessing healthcare resource needs for this patient group in the future.
Last updated: 17.10.2025