High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by <i>HK1</i> mutation

Kubota, Daiki; Matsumoto, Kaori; Hayashi, Mitsuko; Oishi, Noriko; Gocho, Kiyoko; Yamaki, Kunihiko; Kobayakawa, Shinichiro; Igarashi, Tsutomu; Takahashi, Hiroshi; Kameya, Shuhei

doi:10.1080/13816810.2020.1810284

Cited by 8 publications

(6 citation statements)

References 21 publications

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“…Despite extensive investigations of cone mosaic changes in patients with IRDs using AOSLO and AOFIO, 14 , 22 , 23 the repeatability and test–retest variability of these techniques have been addressed in few studies. 15 , 24 , 25 In the only repeatability study using rtx1 in patients with RP, the inter-session CoR of CD at 2° eccentricity was 3514 cells/mm 2 .…”

Section: Discussionmentioning

confidence: 99%

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy

Roshandel

Jeffery

Charng

et al. 2021

Trans. Vis. Sci. Tech.

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Purpose Rod–cone dystrophy (RCD) is characterized by centripetal loss of rod followed by cone photoreceptors. In this prospective, observational cohort, we used flood-illumination adaptive optics (AO) imaging to investigate parafoveal cone loss in regions with preserved ellipsoid zone (EZ) in patients with RCD. Methods Eight patients with RCD and 10 age-matched healthy controls underwent spectral-domain optical coherence tomography and AO imaging. The RCD cohort underwent a follow-up examination after 6 months. Cone density (CD) and intercone distance (ICD) measurements were performed at 2° temporal from the fovea. Baseline CD and ICD values were compared between the control and patient groups, and longitudinal changes were calculated in the patient group. Residual EZ span in patients was measured in horizontal foveal B-scans. Results Between the control and patient groups, there was no significant difference in the baseline CD (2094 vs. 1750 cells/deg 2 , respectively; P = 0.09) and ICD (1.46 vs. 1.62 arcmin, respectively; P = 0.08). Mean CD declined by 198 cells/deg 2 (−11.3%; P < 0.01), and mean ICD increased by 0.09 arcmin (+5.6%; P = 0.01) at the 6-month follow-up in the patient group. Mean baseline and follow-up residual EZ spans in the six patients with EZ defect were 3189 µm and 3065 µm, respectively (−3.9%; P = 0.08). Conclusions AO imaging detected significant parafoveal cone loss over 6-month follow-up even in regions with preserved EZ. Further studies to refine AO imaging protocol and validate cone metrics as a structural endpoint in early RCD are warranted. Translational Relevance CD and ICD may change prior to EZ span shortening in RCD.

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Section: Discussionmentioning

confidence: 99%

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy

Roshandel

Jeffery

Charng

et al. 2021

Trans. Vis. Sci. Tech.

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“…20,21 In addition, several recent studies showed that the cone density in the images recorded by adaptive optics scanning laser ophthalmoscopy in RP patients ranged from normal to severely reduced, despite the presence of intact EZ in the OCT images. 22 Thus, a "dysfunctional EZ" probably indicates a loss of the cone outer segments before disturbances of the cone inner segments in the earliest stage of retinal degeneration. Although it was difficult to measure the IZ width in this study, the fact that the EZ-RPE thickness, as an alternative indicator of IZ, was correlated with the b-wave amplitude of FMERG but not with the MD values of HFA 10-2 supports this.…”

Section: Discussionmentioning

confidence: 99%

Assessments of Macular Function by Focal Macular Electroretinography and Static Perimetry in Eyes With Retinitis Pigmentosa

Okado

Koyanagi

Inooka

et al. 2022

Retina

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Purpose: To assess the macular function by focal macular electroretinography and static perimetry in eyes with retinitis pigmentosa.Methods: Eighty-eight eyes of 88 retinitis pigmentosa patients were analyzed. The relationships between the focal macular electroretinography components and the mean deviations (MDs) of the Humphrey Field Analyzer 10-2 were determined. Spectral-domain optical coherence tomography was used to determine the integrity of the ellipsoid zone (EZ) and the interdigitation zone.Results: Forward-backward stepwise regression analyses showed that the amplitudes (r = 0.45, P , 0.01) and implicit times (r = 20.29, P , 0.01) of the b-waves were significantly correlated with the MDs. Some of the eyes had reduced b-wave amplitudes (,1.0 mV) and disrupted interdigitation zone, despite having a better MD ($ 210.0 dB) and intact EZ. Subgroup analyses of eyes with better MD ($ 210.0 dB) showed that the EZ width was correlated with the MDs but not with the b-wave amplitude. The thickness of the EZ-retinal pigment epithelium as an alternative indicator of interdigitation zone was correlated with the b-wave amplitude (r = 0.32, P = 0.04) but not with the MDs (r = 20.10, P = 0.53). Conclusion:The fact that the focal macular electroretinography amplitudes are reduced before the shortening of the EZ in the early stage of retinitis pigmentosa indicates that the focal macular electroretinography amplitudes are an earlier indicator of macular dysfunction than the Humphrey Field Analyzer 10-2 findings.

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“…The detailed procedure and ERG conditions have been reported previously [ 33 , 34 , 35 , 36 ]. Macular function was evaluated by multifocal ERG (LE-4100, Tomey, Nagoya, Japan), as previously described [ 37 , 38 ]. In the multifocal ERG system, the visual stimuli consist of 61 hexagonal elements with an overall subtense of approximately 50°.…”

Section: Methodsmentioning

confidence: 99%

Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

Mizobuchi

Hayashi

Oishi

et al. 2021

JCM

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Background: Little is known about genotype–phenotype correlations of RP1-associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of RP1 variants and provide a detailed description of the clinical findings in Japanese patients. Methods: In total, 607 patients with inherited retinal diseases were examined using whole-exome/whole-genome sequencing (WES/WGS). PCR-based screening for an Alu element insertion (c.4052_4053ins328/p.Tyr1352AlafsTer9) was performed in 18 patients with autosomal-recessive (AR)-retinitis pigmentosa (RP) or AR-cone dystrophy (COD)/cone-rod dystrophy (CORD), including seven patients with heterozygous RP1 variants identified by WES/WGS analysis, and 11 early onset AR-RP patients, in whom no pathogenic variant was identified. We clinically examined 25 patients (23 families) with pathogenic RP1 variants, including five patients (five families) with autosomal-dominant (AD)-RP, 13 patients (11 families) with AR-RP, and seven patients (seven families) with AR-COD/CORD. Results: We identified 18 pathogenic RP1 variants, including seven novel variants. Interestingly, the Alu element insertion was the most frequent variant (32.0%, 16/50 alleles). The clinical findings revealed that the age at onset and disease progression occurred significantly earlier and faster in AR-RP patients compared to AD-RP or AR-COD/CORD patients. Conclusions: Our results suggest a genotype–phenotype correlation between variant types/locations and phenotypes (AD-RP, AR-RP, and AR-COD/CORD), and the Alu element insertion was the most major variant in Japanese patients with RP1-associated retinal dystrophies.

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High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation

Abstract: (2020): High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation, Ophthalmic Genetics,

Cited by 8 publications

References 21 publications

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy

Assessments of Macular Function by Focal Macular Electroretinography and Static Perimetry in Eyes With Retinitis Pigmentosa

Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

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