Table 2 of Xu, Mol Vis 2015; 21:477-486.

Table 2. Clinical features of the five patients with mutations identified in this study.

PatientID Gene Variations Inheri-tance Gender Age at Firstsymptom Visual acuity Fundusexamination Electroretinography responses Othersystemic 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