Purposes: To study the clinical and genetic background of a series of Italian patients affected by pattern dystrophy (PD). Methods: We reviewed patients with a clinical diagnosis of PD examined at the Eye Clinic in Florence from 2012 to 2019. We took into consideration patients with a standard ophthalmological examination, personal and familial ophthalmological history, fundus imaging, and molecular genetic analysis of genes PRPH2 and BEST1. We labelled patients with BEST1 and PRPH2 mutations as m-PD group (mutated) whereas patients with no mutations in these 2 genes as nm-PD group (non-mutated). Results: Seventy-seven PD patients were assessed (average age 59.7 ± 14.2, range 31–88 years). Fifty patients were placed in the nm-PD group and 27 in the m-PD. Pathogenic BEST1 and PRPH2 mutations were detected in 7% and 22% of PD patients, respectively. In total, we reported 1 BEST1 and 8 PRPH2 novel mutations. Ten patients were characterized by drusen in the nm-PD group whereas in no patients in the m-PD group drusen were detected at the fundus. Conclusions: An important proportion of patients affected by PD showed BEST1 or PRPH2 mutations. Patients affected by drusen represent a different sub-phenotype. Genetic examination is recommended for a correct clinical management.

Clinical and molecular findings in patients with pattern dystrophy / Sodi, A.; Mucciolo, D. P.; Giorgio, D.; Passerini, I.; Pacini, B.; Bruschi, M.; Verdina, T.; Virgili, G.; Giansanti, F.; Murro, V.. - In: OPHTHALMIC GENETICS. - ISSN 1381-6810. - 42:5(2021), pp. 577-587. [10.1080/13816810.2021.1938140]

Clinical and molecular findings in patients with pattern dystrophy

Giorgio D.;Bruschi M.;Verdina T.;Virgili G.;
2021-01-01

Abstract

Purposes: To study the clinical and genetic background of a series of Italian patients affected by pattern dystrophy (PD). Methods: We reviewed patients with a clinical diagnosis of PD examined at the Eye Clinic in Florence from 2012 to 2019. We took into consideration patients with a standard ophthalmological examination, personal and familial ophthalmological history, fundus imaging, and molecular genetic analysis of genes PRPH2 and BEST1. We labelled patients with BEST1 and PRPH2 mutations as m-PD group (mutated) whereas patients with no mutations in these 2 genes as nm-PD group (non-mutated). Results: Seventy-seven PD patients were assessed (average age 59.7 ± 14.2, range 31–88 years). Fifty patients were placed in the nm-PD group and 27 in the m-PD. Pathogenic BEST1 and PRPH2 mutations were detected in 7% and 22% of PD patients, respectively. In total, we reported 1 BEST1 and 8 PRPH2 novel mutations. Ten patients were characterized by drusen in the nm-PD group whereas in no patients in the m-PD group drusen were detected at the fundus. Conclusions: An important proportion of patients affected by PD showed BEST1 or PRPH2 mutations. Patients affected by drusen represent a different sub-phenotype. Genetic examination is recommended for a correct clinical management.
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Clinical and molecular findings in patients with pattern dystrophy / Sodi, A.; Mucciolo, D. P.; Giorgio, D.; Passerini, I.; Pacini, B.; Bruschi, M.; Verdina, T.; Virgili, G.; Giansanti, F.; Murro, V.. - In: OPHTHALMIC GENETICS. - ISSN 1381-6810. - 42:5(2021), pp. 577-587. [10.1080/13816810.2021.1938140]
Sodi, A.; Mucciolo, D. P.; Giorgio, D.; Passerini, I.; Pacini, B.; Bruschi, M.; Verdina, T.; Virgili, G.; Giansanti, F.; Murro, V.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1294324
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