Cone-Rod Dystrophy

Nmnat1-Associated Cone–rod Dystrophy: Evidence for a Spectrum of Foveal Maldevelopment

“…26,27 Consistent with these reports, our patients showed a retinawide degeneration fitting the clinical diagnosis of a CRD. [35][36][37] As is the case in most IRDs, our findings support a basic phenotype modulated by disease severity. NMNAT1-IRDs exemplify this scenario by consistently showing a predominantly central disease with a spectrum of severity ranging from a juvenile-onset CRD, to the earliest onset, functionally not easily classifiable disease in the category of LCA/EORDs.…”

Nmnat1-Associated Cone–rod Dystrophy: Evidence for a Spectrum of Foveal Maldevelopment

“…26,27 Consistent with these reports, our patients showed a retinawide degeneration fitting the clinical diagnosis of a CRD. [35][36][37] As is the case in most IRDs, our findings support a basic phenotype modulated by disease severity. NMNAT1-IRDs exemplify this scenario by consistently showing a predominantly central disease with a spectrum of severity ranging from a juvenile-onset CRD, to the earliest onset, functionally not easily classifiable disease in the category of LCA/EORDs.…”

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

“…The affected family members with dominant ARL3 p.Asp67Val in the current study manifested equal rod and cone dysfunction by ERG (Figure 4D; Yagasaki and Jacobson, 1989), maculopathy in the form of bull's eye changes even at early stages, and late stage loss of macular and peripheral vision with retina-wide pigmentary retinopathy. Bull's eye maculopathy is not specific and has been associated with toxic disorders as well as IRDs but especially cone dystrophy and CRD (Krill, 1977;Michaelides et al, 2007;Thiadens et al, 2012).…”

“…Techniques, methods of data analysis, and normal results for ERGs have been described (Jacobson et al, 1989;Yagasaki and Jacobson, 1989;Azari et al, 2006;Aleman et al, 2009). After a 45-min period of dark adaptation, full-field ERGs were elicited using scotopically matched blue and red lights followed by a series of blue light flashes with increasing intensities to elicit a rod response.…”

Assessment of Hereditary Retinal Degeneration in the English Springer Spaniel Dog and Disease Relationship to anRPGRIP1Mutation

“…A phenotypic variation between clinical signs in affected individuals and in the onset of hereditary retinal dystrophies has been observed, also by functional testing in human cone rod dystrophies [33]. The variation in clinical signs and time for initial symptoms is especially true for retinopathies caused by the RPGRIP1 mutation, on a variable genetic background, such as is the case in the human population.…”

Nmnat1-Associated Cone–rod Dystrophy: Evidence for a Spectrum of Foveal Maldevelopment

“…26,27 Consistent with these reports, our patients showed a retinawide degeneration fitting the clinical diagnosis of a CRD. [35][36][37] As is the case in most IRDs, our findings support a basic phenotype modulated by disease severity. NMNAT1-IRDs exemplify this scenario by consistently showing a predominantly central disease with a spectrum of severity ranging from a juvenile-onset CRD, to the earliest onset, functionally not easily classifiable disease in the category of LCA/EORDs.…”

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

“…The affected family members with dominant ARL3 p.Asp67Val in the current study manifested equal rod and cone dysfunction by ERG (Figure 4D; Yagasaki and Jacobson, 1989), maculopathy in the form of bull's eye changes even at early stages, and late stage loss of macular and peripheral vision with retina-wide pigmentary retinopathy. Bull's eye maculopathy is not specific and has been associated with toxic disorders as well as IRDs but especially cone dystrophy and CRD (Krill, 1977;Michaelides et al, 2007;Thiadens et al, 2012).…”

“…Techniques, methods of data analysis, and normal results for ERGs have been described (Jacobson et al, 1989;Yagasaki and Jacobson, 1989;Azari et al, 2006;Aleman et al, 2009). After a 45-min period of dark adaptation, full-field ERGs were elicited using scotopically matched blue and red lights followed by a series of blue light flashes with increasing intensities to elicit a rod response.…”

Assessment of Hereditary Retinal Degeneration in the English Springer Spaniel Dog and Disease Relationship to anRPGRIP1Mutation

“…A phenotypic variation between clinical signs in affected individuals and in the onset of hereditary retinal dystrophies has been observed, also by functional testing in human cone rod dystrophies [33]. The variation in clinical signs and time for initial symptoms is especially true for retinopathies caused by the RPGRIP1 mutation, on a variable genetic background, such as is the case in the human population.…”

Nmnat1-Associated Cone–rod Dystrophy: Evidence for a Spectrum of Foveal Maldevelopment

“…26,27 Consistent with these reports, our patients showed a retinawide degeneration fitting the clinical diagnosis of a CRD. [35][36][37] As is the case in most IRDs, our findings support a basic phenotype modulated by disease severity. NMNAT1-IRDs exemplify this scenario by consistently showing a predominantly central disease with a spectrum of severity ranging from a juvenile-onset CRD, to the earliest onset, functionally not easily classifiable disease in the category of LCA/EORDs.…”

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

“…The affected family members with dominant ARL3 p.Asp67Val in the current study manifested equal rod and cone dysfunction by ERG (Figure 4D; Yagasaki and Jacobson, 1989), maculopathy in the form of bull's eye changes even at early stages, and late stage loss of macular and peripheral vision with retina-wide pigmentary retinopathy. Bull's eye maculopathy is not specific and has been associated with toxic disorders as well as IRDs but especially cone dystrophy and CRD (Krill, 1977;Michaelides et al, 2007;Thiadens et al, 2012).…”

“…Techniques, methods of data analysis, and normal results for ERGs have been described (Jacobson et al, 1989;Yagasaki and Jacobson, 1989;Azari et al, 2006;Aleman et al, 2009). After a 45-min period of dark adaptation, full-field ERGs were elicited using scotopically matched blue and red lights followed by a series of blue light flashes with increasing intensities to elicit a rod response.…”

Assessment of Hereditary Retinal Degeneration in the English Springer Spaniel Dog and Disease Relationship to anRPGRIP1Mutation

“…A phenotypic variation between clinical signs in affected individuals and in the onset of hereditary retinal dystrophies has been observed, also by functional testing in human cone rod dystrophies [33]. The variation in clinical signs and time for initial symptoms is especially true for retinopathies caused by the RPGRIP1 mutation, on a variable genetic background, such as is the case in the human population.…”