Table 2 of Nakamura, Mol Vis 2010; 16:425-437. Table 2 of Nakamura, Mol Vis 2010; 16:425-437.
Table 2. Clinical Characteristics in complete CSNB with TRPM1 mutations.
Mutation |
Corrected visual acuity |
Refraction |
Color vision |
Fundus appearance |
Visual field |
Night blindness |
Nystagmus |
Strabismus |
|---|---|---|---|---|---|---|---|---|
| patient #373 (Male, 9 years old) | ||||||||
| IVS3–3C>G, F1075S | 1.0 (OD) | −8.25 −2.75 X 40 (OD) | ND | Myopic | ND | + | − | Orthophoria |
| 1.0 (OS) | −8.25 −0.50 X 180 (OS) | |||||||
| patient #437 (Male, 19 years old) | ||||||||
| R624C, S882X | 1.0 (OD) | −4.50 −2.25 X 120 (OD) | Normal | Myopic | Normal | + | − | Orthophoria |
| 1.0 (OS) | −4.50 −2.75 X 50 (OS) | |||||||
| patient #484 (Male, 27 years old) | ||||||||
| IVS9+3_6delAAGT, R624C | 0.5 (OD) | −13.00 −3.00 X 90 (OD) | Normal | Myopic | Normal | + | + | Esotropia |