Eye Genetics
Our research
The group combines clinical ophthalmology, ophthalmic pathology, imaging, genetics, and bioinformatics expertise to improve diagnostics, genetic counseling, and treatment development. The research is especially relevant in Finland, which has a unique population history.
The Helsinki University Hospital is a national referral center for many rare and complex eye diseases.
The group has identified genetic causes for various inherited eye diseases, including inherited corneal and retinal diseases, early-onset glaucoma, and BAP1 tumor predisposition syndrome. The group has also phenotypically characterized rare diseases such as Keratitis fugax hereditaria and contributed to the FinnGen project, utilizing biobank data to study glaucoma and other eye diseases. In addition, the group has developed cellular models and tested pathogenic variants to improve clinical decision-making.
The research aims to achieve several key objectives. First, it seeks to provide detailed clinical and molecular profiling of inherited eye diseases in Finland. Second, it focuses on identifying causative genes using short- and long-read genome sequencing. Third, it investigates disease mechanisms at a cellular level. Fourth, it explores gene therapies and animal models for treatment. Lastly, it applies genetic knowledge by utilizing polygenic risk scores for clinical decision-making in complex eye diseases.
The work plan includes expanding the patient database across Finland and collecting family data for genetic analysis. It involves employing advanced sequencing technologies to identify structural and non-coding variants. The group is also establishing zebrafish models, such as those for CERKL-associated retinopathy, and collaborating on gene therapy approaches. Furthermore, they aim to evaluate the role of polygenic risk scores in glaucoma treatment.
The scientific and societal impact of this research is significant. It enhances diagnostics and provides explanations for patients and families affected by inherited eye diseases. Improved genetic counseling, targeted referrals, and better treatment pathways are expected outcomes. The research also contributes to increasing public awareness of rare inherited eye diseases and reducing healthcare costs through more effective diagnostics.
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Group Leader
Postdoctoral Researcher
Michael Backlund
Annamari Immonen
Pauliina Repo
Doctoral Researchers
Sabita Kawan
Konsta Kesti
Elsa-Leea Kotola
Olivia Lilja
Sara Mikkonen
Eemeli Tusa
Inka Vähämäki
Manisai Vallapu
Undergraduate Students
Julia Koskela
Julia Krootila
Katarina Sallila
Staff
Karoliina Ahtola
Juho Hiltunen
Annika Lipponen
Julia Paleologos
Polygenic risk impacts lifetime risk and prognosis of glaucoma.
Tusa ES, Tamlander M, Ripatti S, Harju M, Salo K, FinnGen; Turunen JA*, Mars N*. *Contributed equally. Ophthalmology. 2026.
Genetic risk factors in Finnish patients with Fuchs endothelial cor-neal dystrophy.
Vähämäki IT, Immonen AT, Rämö JT, Jaakkola AM, Krootila K, Kaukonen M; FinnGen; Palotie A, Lohi H, Kivelä TT, Turunen JA. Acta Ophthalmologica. 2026.
Long-read Sequencing Uncovers Novel Pathogenic Duplications in the PRPH2 Gene in Patients with Macular Dystrophy.
Backlund MP, Gasparian SA, Repo PE, Kangas H, Donner K, Putkuri H, Seitsonen S, Paavo M, Kivelä TT, Sierpina DI, Turunen JA. Ophthalmic Genetics. 2025.
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE, Jakkula E, Hiltunen J, Putkuri H, Staskiewicz-Tuikkanen A, Järvinen RS, Täll M, Raivio V, Al-Jamal RT, Kivelä TT, Turunen JA. Pigment Cell and Melanoma Research. 2025.
Errors and Delays in Diagnosing Keratitis Fugax Hereditaria.
Immonen AT, Kawan S, Backlund MP, Saaren-Seppälä H, Kivelä TT, Turunen JA. American Journal of Ophthalmology. 2025.
A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.
Järvinen MA, Baraas RC, Majander A, Backlund MP, Krootila J, Paavo M, Lindahl P, Vasara K, Sankila EM, Kivelä TT, Turunen JA. Acta Ophthalmologica. 2025.
Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1 Associated Genes in Finnish Patients with Uveal Melanoma.
Repo P, Salminen E, Hiltunen J, Putkuri H, Staskiewicz-Tuikkanen A, Järvinen RS, Täll M, Raivio V, Al-Jamal R, Kivelä TT, Turunen JA. Pigment Cell and Melanoma Research. 2025.
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa.
Backlund MP, Repo P, Kangas H, Donner K, Sankila EM, Krootila J, Paavo M, Wartiovaara K, Kivelä TT, Turunen JA. Human Mutation. 2024.
Association of APOE Haplotypes With Common Age-Related Ocular Diseases in 412,171 Individuals.
Liuska PJ, Rämö JT, Lemmelä S, Kaarniranta K, Uusitalo H, Lahtela E, Daly MJ, Harju M, Palotie A, Turunen JA; FinnGen Study. Investigative Ophthalmology & Visual Science. 2023.
Functional assay for assessment of pathogenicity of BAP1 variants.
Repo PE, Backlund MP, Kivelä TT, Turunen JA. Human Molecular Genetics. 2023.
Tero Kivelä, MD PhD, FEBO, Professor of Ophthalmology
Anna Majander MD PhD, Pediatric Ophthalmologist
Minna Vesaluoma, MD PhD, Cornea Specialist
Kari Krootila, MD PhD, Anterior Segment Surgeon
Mika Harju, MD PhD, Professor
Hannes Lohi, PhD, Professor
Heli Skottman, PhD, Professor
Maria Kaukonen, DVM PhD
Nina Mars MD PhD, Associate Professor
Soile Nymark PhD, Associate Professor
Petri Ala-Laurila, Professor
Maarjaliis Paavo, MD PhD, Ophthalmologist
