Table 3 of Low, Mol Vis 2011; 17:2272-2282.

Table 3. Clinical differences between disorders caused by bestrophin-1 (BEST1) mutations.

Clinical signs Best disease[28,33-35,38,39] ARB [8-10] ADVIRC [3-7] Concentric RP [13] AVMD [11,12]
Mode of inheritance Autosomal dominant Autosomal recessive Autosomal dominant Autosomal dominant Autosomal dominant
Fundus lesion Central macula vitelliform lesions Diffuse RPE disturbance and dispersed punctate flecks, subretinal fluid may fluctuate Peripheral circumferential pigmentation, and peripapillary chorioretinal atrophy Foveal deposits, prone to serous retinal detachments. Intraretinal bone spicule pigmentation - often showing an abrupt change between normal and abnormal retina Milder phenotype characterized by RPE atrophy; small drusen-like deposits in the paracentral region
Lens changes Not known Not known Spherophakia and cataract Cataract Nil
Refraction One third ≥ +3.00 DS Range from +0.25 to +4.75 DS −2.50 DS to +15.00 DS depending on axial biometry / presence of posterior staphyloma Limited data suggest marked interfamilial variability from high hyperopia to high myopia Unknown
Other features ACG ACG ACG, microcornea, iris dysgenesis, and posterior staphyloma Nil Nil
EOG findings of relevance to this study Normal/ near-normal EOGs reported for p.F305S/L, p.A243V, p.I295del No cases of affected individuals with normal EOGs to date Marked inter and intra-familial variability for EOG findings EOGs not tested Mildly reduced EOG for p.A243V