1. Introduction
2. Materials and Methods
2.1. Genetic Analysis
2.2. Clinical Evaluation
3. Results
4. Discussion
Acknowledgments
Author Contributions
Conflicts of Interest
References
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Proband | Gender | Mutation (cDNA) | Mutation (Protein) | Age at Diagnosis (y) | Age at Last Examination (y) | BCVA RE, LE Refr. Error (SE) | Goldmann Perimetry | Ocular Features |
---|---|---|---|---|---|---|---|---|
32666 | M | c.508C>A c.508C>A | p.Arg170Ser p.Arg170Ser | 10 | 29 | 20/125, 20/125 +4.75/+6.50 | Moderately constricted, midperipheral and central sensitivity loss | Divergent strabismus |
32595 | M | c.508C>A c.654del | p.Arg170Ser p.Cys219Valfs*4 | 2 | 13 | 20/40, 20/40 +3.0/+3.0 | Midperipheral and central sensitivity loss | Convergent strabismus, nystagmus |
32594 | M | c.508C>A c.654del | p.Arg170Ser p.Cys219Valfs*4 | 2 | 11 | 20/32, 20/63 +1.5/+3.25 | Moderately constricted, midperipheral and central sensitivity loss | Convergent strabismus, nystagmus |
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