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Clinical and molecular findings in patients with pattern dystrophy
Andrea Sodi1, Dario Pasquale Mucciolo1,2, Dario Giorgio1
1Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
Ophthalmic Genetics
|July 9, 2021
Summary
Genetic analysis of pattern dystrophy (PD) in Italian patients revealed that mutations in BEST1 and PRPH2 genes are common. Patients with drusen represent a distinct sub-phenotype, underscoring the need for genetic testing in PD management.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Pattern dystrophy (PD) is an inherited retinal condition.
- Understanding the genetic basis of PD is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the clinical and genetic factors of Italian patients with pattern dystrophy.
- To identify specific gene mutations associated with PD in this cohort.
Main Methods:
- Retrospective review of 77 Italian PD patients (2012-2019).
- Ophthalmological examination, family history, fundus imaging.
- Molecular genetic analysis of PRPH2 and BEST1 genes.
Main Results:
- 27 out of 77 patients (35%) had mutations in BEST1 or PRPH2 genes.
- Pathogenic mutations were found in 7% (BEST1) and 22% (PRPH2) of PD patients.
- Novel mutations were identified; drusen were present in non-mutated patients only.
Conclusions:
- A significant proportion of PD patients harbor BEST1 or PRPH2 mutations.
- The presence of drusen suggests a distinct sub-phenotype of PD.
- Genetic testing is recommended for accurate clinical management of PD.
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