Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic inKCNV2-Related “Cone Dystrophy with Supernormal Rod Electroretinogram”

Unusual association of keratoconus with situs inversus and micronystagmus

“…The aetiopathogenesis of micronystagmus is not well described. Although considered physiological, it has been reported in patients with cone dystrophy24 and oculopalatal disorders 25. The presence of micronystagmus in our patient as an incidental finding or as a sign of visual impairment due to situs inversus cannot be ruled out.…”

Tomographic comparison of cone-rod and rod-cone retinal dystrophies

“…As expected by the pathology of the diseases, disruption or disappearance of the ELM, ISe, and/or IZ have been reported in eyes with these diseases e.g. in RP [9][10][11][12], cone dystrophy [13][14][15][16][17], and CRD [18]. In addition, a recent study suggested that the IZ line is useful in differentiating between different types of photoreceptor degenerations because cone photoreceptors are primarily impaired in CRD [19].…”

“…Focal loss of outer foveal reflectivity on OCT images, or foveal cavitation, has been reported in eyes with Stargardt disease, congenital achromatopsia, and cone dysfunction syndromes [16,17,[23][24][25]. Subsequent reports have demonstrated that foveal cavitation is not specific to Stargardt disease or achromatopsia, and that it can be found in eyes with foveal cone impairment [22].…”

Vision science and adaptive optics, the state of the field

“…We found that cone photoreceptor densities in the parafoveal retina are not reduced in adolescents with type 1 diabetes but participants with diabetes did not show the expected radial asymmetry observed in control participants (Tan et al 2015). We have shown that the macular cone photoreceptor mosaic is markedly disrupted in young children with the KCNV2 cone dystrophy (Vincent et al 2013). …”