Original Articles
Vol. 14 (2019)
https://doi.org/10.3269/1970-5492.2019.14.30

ASSOCIATION BETWEEN THREE POLYMORPHISMS IN RP1 HOTSPOT REGION AND RISK OF RETINITIS PIGMENTOSA IN ITALIAN PATIENTS: A PILOT STUDY

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Published: January 12 2026
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Luigi Donato
ldonato@unime.it
Department of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy; Department of Cutting-Edge Medicine and Therapies, Biomolecular Strategies and Neuroscience, Section of Applied Neuroscience, Molecular Genetics and Predictive Medicine, I.E.ME.S.T., Palermo, Italy, Italy.
Conectta Scimone
Department of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy; Department of Cutting-Edge Medicine and Therapies, Biomolecular Strategies and Neuroscience, Section of Applied Neuroscience, Molecular Genetics and Predictive Medicine, I.E.ME.S.T., Palermo, Italy, Italy.
Antonina Sidoti
Department of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy; Department of Cutting-Edge Medicine and Therapies, Biomolecular Strategies and Neuroscience, Section of Applied Neuroscience, Molecular Genetics and Predictive Medicine, I.E.ME.S.T., Palermo, Italy, Italy.
Carmela Rinaldi
Department of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy, Italy.
Rosalia D'Angelo
Department of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy, Italy.
Retinitis pigmentosa (RP) represents a heterogeneous inherited ocular disorder characterized by progressive retinal degeneration. Individuals affected by RP show night blindness, tunnel vision and progressive visual field reduction which usually culminates in complete blindness. Histologically, accumulation of lipofuscin granules represents the most frequent sign. Today, more than 80 genes are associated with RP, and among them RP1 is one of the most frequently mutated. Variants in this gene may be inherited as autosomal recessive, dominant, X-linked or sporadic patterns. In Italian individuals affected by RP we detected three polymorphisms within RP1 exon 4 (rs446227, rs414352, rs441800), falling in its exon 4 hotspot polymorphic region, and without a certain association with RP disease. Therefore, we studied the frequencies of the previously cited polymorphisms in the Sardinian population and verified a possible association with RP. The analyses showed a significant association, although we cannot exclude the role of the three polymorphisms in other related disorders.

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ASSOCIATION BETWEEN THREE POLYMORPHISMS IN RP1 HOTSPOT REGION AND RISK OF RETINITIS PIGMENTOSA IN ITALIAN PATIENTS: A PILOT STUDY. (2026). EuroMediterranean Biomedical Journal, 14. https://doi.org/10.3269/1970-5492.2019.14.30
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