X-linked Recessive Retinitis Pigmentosa

Electroretinographic diagnosis in families with X‐linked retinitis pigmentosa

“…Both the amplitude and the implicit time of the B-wave was found to be affected in the carriers, in agreement with previous observations (Berson et al 1980;Fishman et al 1986). The amplitude measurements have a larger variability than the implicit time, illustrated by the large standard errors of the means in Table 1.…”

“…lation with computer averaging of the ERG responses. Most have been done in the USA and in Great Britain but none in Scandinavia (Berson et al 1980;Fishman et al 1986;Arden et al 1983).…”

Electroretinographic diagnosis in families with X‐linked retinitis pigmentosa

“…Both the amplitude and the implicit time of the B-wave was found to be affected in the carriers, in agreement with previous observations (Berson et al 1980;Fishman et al 1986). The amplitude measurements have a larger variability than the implicit time, illustrated by the large standard errors of the means in Table 1.…”

“…lation with computer averaging of the ERG responses. Most have been done in the USA and in Great Britain but none in Scandinavia (Berson et al 1980;Fishman et al 1986;Arden et al 1983).…”

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man

“…Similar patterns have been found in other forms of retinal degeneration in humans and animals (3,42,(52)(53)(54)(55), including heterozygotes of X-linked RP (56). The latter may be another example of microscopic patchiness of retinal degeneration (caused by X inactivation) leading to a similar topographic pattern of disease.…”

The prevalence of cystoid macular oedema on optical coherence tomography in retinitis pigmentosa patients without cystic changes on fundus examination

“…None of the seven patients in the X-linked group showed CME changes, even though this latter subtype is considered to show the most severe form of disease in terms of visual impairment. 28 A previous study reported that macular oedema did not appear to be more common in any of the genetic groups. 29 Because of the small number of patients in our cohort within the various genetic subtypes of RP, we did not report a statistical analysis for the difference in the presence of CME between genetic subtypes.…”

Electroretinographic diagnosis in families with X‐linked retinitis pigmentosa

“…Both the amplitude and the implicit time of the B-wave was found to be affected in the carriers, in agreement with previous observations (Berson et al 1980;Fishman et al 1986). The amplitude measurements have a larger variability than the implicit time, illustrated by the large standard errors of the means in Table 1.…”

“…lation with computer averaging of the ERG responses. Most have been done in the USA and in Great Britain but none in Scandinavia (Berson et al 1980;Fishman et al 1986;Arden et al 1983).…”

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man

“…Similar patterns have been found in other forms of retinal degeneration in humans and animals (3,42,(52)(53)(54)(55), including heterozygotes of X-linked RP (56). The latter may be another example of microscopic patchiness of retinal degeneration (caused by X inactivation) leading to a similar topographic pattern of disease.…”

The prevalence of cystoid macular oedema on optical coherence tomography in retinitis pigmentosa patients without cystic changes on fundus examination

“…None of the seven patients in the X-linked group showed CME changes, even though this latter subtype is considered to show the most severe form of disease in terms of visual impairment. 28 A previous study reported that macular oedema did not appear to be more common in any of the genetic groups. 29 Because of the small number of patients in our cohort within the various genetic subtypes of RP, we did not report a statistical analysis for the difference in the presence of CME between genetic subtypes.…”

Electroretinographic diagnosis in families with X‐linked retinitis pigmentosa

“…Both the amplitude and the implicit time of the B-wave was found to be affected in the carriers, in agreement with previous observations (Berson et al 1980;Fishman et al 1986). The amplitude measurements have a larger variability than the implicit time, illustrated by the large standard errors of the means in Table 1.…”

“…lation with computer averaging of the ERG responses. Most have been done in the USA and in Great Britain but none in Scandinavia (Berson et al 1980;Fishman et al 1986;Arden et al 1983).…”

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man

“…Similar patterns have been found in other forms of retinal degeneration in humans and animals (3,42,(52)(53)(54)(55), including heterozygotes of X-linked RP (56). The latter may be another example of microscopic patchiness of retinal degeneration (caused by X inactivation) leading to a similar topographic pattern of disease.…”

The prevalence of cystoid macular oedema on optical coherence tomography in retinitis pigmentosa patients without cystic changes on fundus examination

“…None of the seven patients in the X-linked group showed CME changes, even though this latter subtype is considered to show the most severe form of disease in terms of visual impairment. 28 A previous study reported that macular oedema did not appear to be more common in any of the genetic groups. 29 Because of the small number of patients in our cohort within the various genetic subtypes of RP, we did not report a statistical analysis for the difference in the presence of CME between genetic subtypes.…”