Pathology of Hereditary Juvenile Retinoschisis

Manschot, W. A.

doi:10.1001/archopht.1972.01000030133002

Cited by 112 publications

(25 citation statements)

References 3 publications

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“…The role of RS1 in photoreceptor function has not been identified, but mutations in the retinoschisin gene cause a retinal dystrophy in young males known as X-linked retinoschisis (Sauer et al, 1997) characterized by delamination of internal retinal structure and consequent reduction in retinal signaling (Manschot, 1972) as measured by the reduced b-wave of the electroretinogram (ERG).…”

Section: Introductionmentioning

confidence: 99%

Loss of Retinoschisin (RS1) Cell Surface Protein in Maturing Mouse Rod Photoreceptors Elevates the Luminance Threshold for Light-Driven Translocation of Transducin But Not Arrestin

et al. 2012

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Loss of retinoschisin (RS1) inRs1 knock-out (Rs1-KO) retina produces a post-photoreceptor phenotype similar to X-linked retinoschisis in young males. However, Rs1 is expressed strongly in photoreceptors, and Rs1-KO mice have early reduction in the electroretinogram a-wave. We examined light-activated transducin and arrestin translocation in young Rs1-KO mice as a marker for functional abnormalities in maturing rod photoreceptors. We found a progressive reduction in luminance threshold for transducin translocation in wild-type (WT) retinas between postnatal days P18 and P60. At P21, the threshold in Rs1-KO retinas was 10-fold higher than WT, but it decreased to Ͻ2.5-fold higher by P60. Light-activated arrestin translocation and re-translocation of transducin in the dark were not affected. Rs1-KO rod outer segment (ROS) length was significantly shorter than WT at P21 but was comparable with WT at P60. These findings suggested a delay in the structural and functional maturation of Rs1-KO ROS. Consistent with this, transcription factors CRX and NRL, which are fundamental to maturation of rod protein expression, were reduced in ROS of Rs1-KO mice at P21 but not at P60. Expression of transducin was 15-30% lower in P21 Rs1-KO ROS and transducin GTPase hydrolysis was nearly twofold faster, reflecting a 1.7-to 2.5-fold increase in RGS9 (regulator of G-protein signaling) level. Transduction protein expression and activity levels were similar to WT at P60. Transducin translocation threshold elevation indicates photoreceptor functional abnormalities in young Rs1-KO mice. Rapid reduction in threshold coupled with age-related changes in transduction protein levels and transcription factor expression are consistent with delayed maturation of Rs1-KO photoreceptors.

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Section: Introductionmentioning

confidence: 99%

Loss of Retinoschisin (RS1) Cell Surface Protein in Maturing Mouse Rod Photoreceptors Elevates the Luminance Threshold for Light-Driven Translocation of Transducin But Not Arrestin

et al. 2012

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“…5,11,12 Mutation in RS1 results in schisis (splitting) of the neural retina within the superficial retinal layers, the inner limiting membrane, the nerve fibre layer, and the ganglion cell layer, leading to reduced visual acuity (VA) in affected males. [13][14][15][16] Three main underlying pathological mechanisms are presumed responsible for retinoschisin protein dysfunction. These include defective assembly of the disulphide-linked subunit, abnormal folding of the discoidin domain, and inability of retinoschisin to insert into the endoplasmic reticulum membrane (part of the protein secretion process).…”

Section: Introductionmentioning

confidence: 99%

X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype

Khandhadia

Trump

Menon

et al. 2011

Eye

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Purpose To correlate the response of topical dorzolamide (Trusopt; Merck) in patients with X-linked retinoschisis (XLRS) with genotype. Methods We carried out a retrospective evaluation of four patients (seven eyes) with XLRS, treated with topical dorzolamide. The change in best-corrected visual acuity (VA) and central macular thickness (CMT; central 1 mm subfield thickness) from optical coherence tomography (OCT) was analysed over the follow-up period, using Student's t-test. Each patient also had genetic analysis for mutations in the retinoschisis gene (RS1). Results The mean age at the start of treatment was 14.7 ± 11 years, and mean follow-up duration was 21.7±7.7 months. Mean CMT at the final follow-up was significantly better than at baseline (291±123 vs 352±119 lm, P ¼ 0.007); however, mean VA was worse (0.38 ± 0.25 vs 0.31 ± 0.24 logMAR score, P ¼ 0.041). All four patients had a mutation in the RS1 gene; there was no apparent association between the type of mutation and the response to topical dorzolamide. Conclusion Topical dorzolamide may have some effect in reducing central macular thickness in patients with XLRS, but this does not necessarily correlate with improvement in VA. In our case series, genotypic information did not predict the response to this treatment.

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“…Splitting in the nerve fiber layer (NFL) attributed to Müller cell dysfunction was noted on histological studies and was observed in vivo with OCT by Eriksson et al 3,4 In this study, we used SD-OCT (RS 3000, Nidek, Japan) to examine the foveal areas in two patients with juvenile retinoschisis.…”

mentioning

confidence: 95%

Spectral Domain Optical Coherence Tomography Findings in Two Cases of X-Linked Juvenil Retinoschisis

Kirgiz¹,

Atalay²,

Kaldırım³

et al. 2015

Turkiye Klinikleri J Case Rep

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Pathology of Hereditary Juvenile Retinoschisis

Cited by 112 publications

References 3 publications

Loss of Retinoschisin (RS1) Cell Surface Protein in Maturing Mouse Rod Photoreceptors Elevates the Luminance Threshold for Light-Driven Translocation of Transducin But Not Arrestin

Loss of Retinoschisin (RS1) Cell Surface Protein in Maturing Mouse Rod Photoreceptors Elevates the Luminance Threshold for Light-Driven Translocation of Transducin But Not Arrestin

X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype

Spectral Domain Optical Coherence Tomography Findings in Two Cases of X-Linked Juvenil Retinoschisis

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