Chromosome 19q Cone-Rod Retinal Dystrophy

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4

“…The individual number in the pedigree is the same as the number used in Fig. 1 and Table 3 which some vision typically persists beyond the third to fourth decade (Evans et al 1995;Gregory-Evans et al 2000;Klevering et al 1999;Small and Gehrs 1996). Like this family, macular degeneration in association with RP has been reported in arRP caused by mutations in such genes as MERTK (McHenry et al 2004), RLBP1 (Burstedt et al 2001) and ABCA4 Martinez-Mir et al 1997.…”

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4

“…The individual number in the pedigree is the same as the number used in Fig. 1 and Table 3 which some vision typically persists beyond the third to fourth decade (Evans et al 1995;Gregory-Evans et al 2000;Klevering et al 1999;Small and Gehrs 1996). Like this family, macular degeneration in association with RP has been reported in arRP caused by mutations in such genes as MERTK (McHenry et al 2004), RLBP1 (Burstedt et al 2001) and ABCA4 Martinez-Mir et al 1997.…”

Short-Wavelength Light Sensitivity of Circadian, Pupillary, and Visual Awareness in Humans Lacking an Outer Retina

“…Two blind subjects (one male, 56 yr old; one female, 87 yr old) without light perception were studied in parallel experiments. The female subject was a member of a family expressing an autosomal-dominant cone-rod dystrophy, which is described as a severe, early-onset phenotype with patients progressing to no perception of light by the fifth decade of life [12, 13] . The male subject had retinitis pigmentosa, a progressive disease of the retinal photoreceptors, and he reported losing light perception in his mid-30s.…”

Rare hemi-retinal phenotype in a cone-rod dystrophy demonstrated by optomap ultra-widefield imaging

“…The literature describes pseudo-altitudinal field defects in conerod dystrophy in autosomal recessive forms and chromosome 19q mutations, although these are relatively rare presentations [1,2]. Moreover, retinal causes of altitudinal defects are rare.…”

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4

“…The individual number in the pedigree is the same as the number used in Fig. 1 and Table 3 which some vision typically persists beyond the third to fourth decade (Evans et al 1995;Gregory-Evans et al 2000;Klevering et al 1999;Small and Gehrs 1996). Like this family, macular degeneration in association with RP has been reported in arRP caused by mutations in such genes as MERTK (McHenry et al 2004), RLBP1 (Burstedt et al 2001) and ABCA4 Martinez-Mir et al 1997.…”

Short-Wavelength Light Sensitivity of Circadian, Pupillary, and Visual Awareness in Humans Lacking an Outer Retina

“…Two blind subjects (one male, 56 yr old; one female, 87 yr old) without light perception were studied in parallel experiments. The female subject was a member of a family expressing an autosomal-dominant cone-rod dystrophy, which is described as a severe, early-onset phenotype with patients progressing to no perception of light by the fifth decade of life [12, 13] . The male subject had retinitis pigmentosa, a progressive disease of the retinal photoreceptors, and he reported losing light perception in his mid-30s.…”

Rare hemi-retinal phenotype in a cone-rod dystrophy demonstrated by optomap ultra-widefield imaging

“…The literature describes pseudo-altitudinal field defects in conerod dystrophy in autosomal recessive forms and chromosome 19q mutations, although these are relatively rare presentations [1,2]. Moreover, retinal causes of altitudinal defects are rare.…”

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4

“…The individual number in the pedigree is the same as the number used in Fig. 1 and Table 3 which some vision typically persists beyond the third to fourth decade (Evans et al 1995;Gregory-Evans et al 2000;Klevering et al 1999;Small and Gehrs 1996). Like this family, macular degeneration in association with RP has been reported in arRP caused by mutations in such genes as MERTK (McHenry et al 2004), RLBP1 (Burstedt et al 2001) and ABCA4 Martinez-Mir et al 1997.…”

Short-Wavelength Light Sensitivity of Circadian, Pupillary, and Visual Awareness in Humans Lacking an Outer Retina

“…Two blind subjects (one male, 56 yr old; one female, 87 yr old) without light perception were studied in parallel experiments. The female subject was a member of a family expressing an autosomal-dominant cone-rod dystrophy, which is described as a severe, early-onset phenotype with patients progressing to no perception of light by the fifth decade of life [12, 13] . The male subject had retinitis pigmentosa, a progressive disease of the retinal photoreceptors, and he reported losing light perception in his mid-30s.…”

Rare hemi-retinal phenotype in a cone-rod dystrophy demonstrated by optomap ultra-widefield imaging

“…The literature describes pseudo-altitudinal field defects in conerod dystrophy in autosomal recessive forms and chromosome 19q mutations, although these are relatively rare presentations [1,2]. Moreover, retinal causes of altitudinal defects are rare.…”