Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients
Author Information
Author(s): Nowińska Anna K., Wylegala Edward, Janiszewska Dominika A., Dobrowolski Dariusz, Aragona Pasquale, Roszkowska Anna M., Puzzolo Domenico
Primary Institution: Department of Ophthalmology, District Railway Hospital, Katowice, Poland
Hypothesis
To analyze genotype-phenotype correlation in patients originating from Polish population with the transforming growth factor beta induced (TGFBI) corneal dystrophies.
Conclusion
This study underlines the role of comprehensive phenotype-genotype analysis in TGFBI corneal dystrophies, describes the TGFBI mutation spectrum in a Polish population and reveals the phenotypic heterogeneity in the case of the H626R mutation.
Supporting Evidence
- The lattice phenotype was dominant compared to the granular one in the Polish population (41:16 patients).
- Five distinct mutations responsible for TGFBI corneal dystrophies were identified.
- There was a strong genotype-phenotype correlation in the case of R124R and R555W mutations.
- Phenotypic heterogeneity was observed in the case of the H626R mutation.
- OCT analysis revealed different patterns of corneal deposits among TGFBI corneal dystrophies.
Takeaway
The study looked at how different genetic mutations affect eye diseases in Polish patients, finding that some mutations lead to different symptoms.
Methodology
The study included 60 affected and 31 unaffected individuals from 15 unrelated Polish families, using clinical exams, OCT, and genetic analysis.
Limitations
The study may not represent all populations due to its focus on a specific Polish cohort.
Participant Demographics
50 women and 41 men, mean age 46 years.
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