Abstract
Objectives: To investigate the prevalence of myocilin (MYOC) mutations in Italian families with glaucoma and to determine the relationship of these mutations to primary open-angle glaucoma (POAG), juvenile open-angle glaucoma (JOAG), and pigmentary dispersion glaucoma. Methods: Twenty-six patients with POAG were selected based on a positive family history of glaucoma. All patients and 210 relatives had an accurate clinical characterization. Main Outcome Measure: Each index patient was screened by single-stranded conformational polymorphism analysis for mutations in the MYOC gene. Results: A MYOC gene mutation was found in 2 families. In one family, a previously reported p.K423E mutation was transmitted from the index patient with POAG to the 2 sons with JOAG. In the second family, a p.C25R change, affecting the signal peptide, was transmitted from the index patient with POAG to the son with JOAG, but not to the son with pigmentary dispersion glaucoma. Conclusions: Clinical characterization of 2 families with MYOC gene mutations indicates that POAG and JOAG are the 2 sides of a continuum phenotypical spectrum due to a common molecular defect. On the other hand, our results confirm the different origin of pigmentary dispersion glaucoma. Clinical Relevance: Because MYOC gene mutations may be responsible for a fraction (2 [8%] of 26) of families with POAG/JOAG, a molecular genetic diagnosis should be included in the management of patients with glaucoma.
Lingua originale | English |
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pagine (da-a) | 1034-1038 |
Numero di pagine | 5 |
Rivista | Archives of Ophthalmology |
Volume | 121 |
DOI | |
Stato di pubblicazione | Pubblicato - 2003 |
Keywords
- Adult
- Aged
- Cytoskeletal Proteins
- DNA Mutational Analysis
- Eye Diseases, Hereditary
- Eye Proteins
- Family
- Glaucoma, Open-Angle
- Glycoproteins
- Humans
- Male
- Middle Aged
- Mutation
- Ophthalmology
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Prevalence