Table 1 of Davidson, Mol Vis 2010; 16:2916-2922. Table 1 of Davidson, Mol Vis 2010; 16:2916-2922.
Table 1. Clinical Details of Two Individuals Affected with Autosomal Recessive Bestrophinopathy.
Individual lD |
Gender |
Age |
Visual Acuity (LogMAR equivalent) |
Age at diagnosis (initial diagnosis) |
Angle closure glaucoma |
Retina |
ERG |
EOG |
Mutations: cDNA (protein) |
|---|---|---|---|---|---|---|---|---|---|
| Subject 1 | Female | 44 | OD 1.0 LogMAR OS 0.8 LogMAR | 19 (macular dystrophy) | Yes | macular edema on the right eye; pale deposits in the fovea and midperiphery of both eyes | Pattern ERG undetectable on the right, normal on the left; subnormal rod ERGs and bright flash ERG a-waves bilaterally; delayed and subnormal 30Hz flicker ERGs bilaterally. | Markedly subnormal EOG light rise bilaterally | c.102C>T (p.Gly34Gly) c.572T>C (p.Leu191Pro) |
| Subject 2 | Male | 45 | OD 1.0 LogMAR OS 0.8 LogMAR | 11 (macular dystrophy) | Yes | atrophic lesions in both maculae; pale deposits in the fovea and around the vascular arcades of both eyes | Pattern ERG undetectable bilaterally; subnormal rod ERGs and bright flash ERG a-waves bilaterally; delayed and subnormal 30Hz flicker ERGs bilaterally. | Not presented | c.102C>T (p.Gly34Gly) c.1470_1471delCA (p.His490GlnfsX24) |