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