Correlation between fundus autofluorescence and visual function in patients with cone-rod dystrophy

Kanda, Satoru; Hara, Takumi; Fujino, Ryosuke; Azuma, Keiko; Soga, Hirotsugu; Asaoka, Ryo; Obata, Ryo; Inoue, Tatsuya

doi:10.1038/s41598-021-81597-7

Cited by 4 publications

(2 citation statements)

References 35 publications

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“…Diagnosis and treatment can therefore be delayed or mistaken until high sensitivity tests, such as FAF or OCT imaging, are promised [26][27] . Through collecting related data, Kanda et al [28] discovered a close connection between abnormalities in FAF and functional damage in CORD patients. Commonly, the small, circular areas of hypo-AF lesions in FAF were not notable on fundoscopy, with the hypo-AF lesions likely representing the RPE dysfunction of increased metabolic load due to photoreceptor apoptosis [26] .…”

Section: Cord With Crx In Chinese Patientsmentioning

confidence: 99%

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families

Chen¹,

Yang²,

Qu³

et al. 2022

Int J Ophthalmol

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AIM: To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy (adCORD) patients from two Chinese families with cone-rod homeobox (CRX) mutation (p.R41W), and to explore the clinical heterogeneity of adCORD with CRX mutation (p.R41W). METHODS: Interrogation and ophthalmological examinations were undertaken in all patients and unaffected members. Analysis of clinical features was performed by visual acuity, slit lamp examination, visual field examination, fundoscopy, autofluorescence and spectral domain optical coherence tomography. Targeted next-generation sequencing was applied as a useful tool to identify the causative mutation of CORD genes. RESULTS: A CRX missense mutation c.121C>T was identified in all patients, resulting in an amino acid change from arginine acid to tryptophan (p.R41W). The patients presented with early onset, progressive and different severities with CORD. CONCLUSION: This is the first report of the clinical phenotype of CRX mutation (p.R41W) in Chinese families, and the mutation can lead to a wide range of various retinal phenotypes.

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Section: Cord With Crx In Chinese Patientsmentioning

confidence: 99%

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families

Chen¹,

Yang²,

Qu³

et al. 2022

Int J Ophthalmol

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“…CORD patients present with decreased visual acuity (VA), impaired retinal sensitivity and color vision loss and sometimes demonstrate peripheral visual field loss at the end stage, followed by rod photoreceptor impairments [ 4 ]. Several studies have revealed a structure-function relationship in eyes with CORD, such as the correlation between VA and residual EZ and between retinal sensitivity and the abnormal autofluorescent area [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

Peripapillary vessel density in eyes with cone-rod dystrophy

Shinozuka,

Arai,

Hirayama

et al. 2024

PLoS ONE

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Purpose To compared the vessel density (VD) around the optic nerve head (ONH) in eyes with cone-rod dystrophy (CORD) and healthy control eyes in a sector-wise manner and to investigate the relationship between VD around the ONH and visual function in CORD eyes. Methods Twenty-six eyes in 14 CORD patients and 25 eyes in 25 healthy control subjects were examined. Using OCT angiography images, the VDs in the superficial and deep capillary plexus at the macula (sVDm and dVDm) and those around the ONH in the superior, temporal, inferior and nasal region (VDnh_s, VDnh_t, VDnh_i, and VDnh_n, respectively) were measured for each eye. Patient age, visual acuity (VA) and VDs were then compared between two groups. Moreover, the relationships between VA and the VDs were analyzed using a linear mixed model and AICc model selection. Results No significant difference in age was seen between the CORD and control groups (p = 0.87, Wilcoxon rank sum test), but the VA was significantly lower in the CORD group (p<0.0001). Both sVDm and dVDm were significantly lower in the CORD eyes than in the control eyes (both p<0.0001). Among VDnh_s, VDnh_t, VDnh_i, and VDnh_n, however, only VDnh_t differed significantly between the CORD and control groups (p = 0.035). Among age, VDnh_t, dVDm, and sVDm, the optimal model for VA included only VDnh_t and dVDm. Conclusions In addition to the VD in the deep capillary plexus at the macula, the measurement of temporal VD around the ONH might be useful for predicting visual function in eyes with CORD.

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A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy

Scopelliti,

Jamieson,

Barnes

et al. 2023

Doc Ophthalmol

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Purpose To describe the natural history of autosomal dominant (AD) GUCY2D-associated cone–rod dystrophies (CRDs), and evaluate associated structural and functional biomarkers. Methods Retrospective analysis was conducted on 16 patients with AD GUCY2D-CRDs across two sites. Assessments included central macular thickness (CMT) and length of disruption to the ellipsoid zone (EZ) via optical coherence tomography (OCT), electroretinography (ERG) parameters, best corrected visual acuity (BCVA), and fundus autofluorescence (FAF). Results At first visit, with a mean age of 30 years (range 5–70 years), 12 patients had a BCVA below Australian driving standard (LogMAR ≥ 0.3 bilaterally), and 1 patient was legally blind (LogMAR ≥ 1). Longitudinal analysis demonstrated a deterioration of LogMAR by − 0.019 per year (p < 0.001). This accompanied a reduction in CMT of − 1.4 µm per year (p < 0.0001), lengthened EZ disruption by 42 µm per year (p = < 0.0001) and increased area of FAF by 0.05 mm2 per year (p = 0.027). Similarly, cone function decreased with increasing age, as demonstrated by decreasing b-wave amplitude of the light-adapted 30 Hz flicker and fused flicker (p = 0.005 and p = 0.018, respectively). Reduction in CMT and increased EZ disruption on OCT were associated with functional changes including poorer BCVA and decreased cone function on ERG. Conclusion We have described the natural long-term decline in vision and cone function associated with mutations in GUCY2D and identified a set of functional and structural biomarkers that may be useful as outcome parameters for future therapeutic clinical trials.

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Correlation between fundus autofluorescence and visual function in patients with cone-rod dystrophy

Cited by 4 publications

References 35 publications

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families

Peripapillary vessel density in eyes with cone-rod dystrophy

A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy

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