Table 2 of
Xu, Mol Vis 2015; 21:477-486. Table 2 of
Xu, Mol Vis 2015; 21:477-486.
Table 2. Clinical features of the five patients with mutations identified in this study.
| Patient ID | Gene | Variations | Inheri- tance | Gender | Age at | First symptom | Visual acuity | Fundus examination | Electroretinography responses | Other systemic symptom | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| exam | onset | OD/OS | rod | cone | ||||||||
| RP237 | BBS2 | c.[899A>G(;) 1814C>G] | Sporadic | F | 14 | EC | PV; NB | 0.1/0.1 | ARA; PBSL | Extinguished | Extinguished | None |
| RP240 | BBS2 | c.[2107C>T]; [2107C>T] | Sporadic | M | 13 | 7 | PV; NB | 0.1/0.2 | ARA; SP | Extinguished | Extinguished | Polydactyly; Obesity; Diabetes mellitus |
| RP374 | INPP5E | c.[1073C>T]; [1669C>T] | Sporadic | F | 20 | EC | PV; NB | 0.2/0.2 | ARA; TLP; PBSL | Extinguished | Extinguished | None |
| RP401 | CACNA1F | c.[3582C>G];[ 0] | Sporadic | M | 9 | NA | PV | 0.2/0.08 | PD | Extinguished | Extinguished | None |
| RP403 | CACNA1F | c.[5704–5C>G];[0] | Sporadic | M | 32 | 22 | PV | 0.2/0.3 | ARA; PBSL | Severe reduced | Severe reduced | None |