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

Abbreviations: ARB represents autosomal recessive bestrophinopathy; ADVIRC represents autosomal dominant vitreoretinochoroidopathy; RP represents retinitis pigmentosa; AVMD represents adult vitelliform macular dystrophy; RPE represents retinal pigment epithelium; DS represents diopters sphere; ACG represents angle-closure glaucoma; EOG represents electrooculography.