Tomographic comparison of cone-rod and rod-cone retinal dystrophies

Inui, Emiko; Oishi, Akio; Oishi, Maho; Ogino, Ken; Makiyama, Yukiko; Gotoh, Noriko; Kurimoto, Masafumi; Yoshimura, Nagahisa

doi:10.1007/s00417-014-2570-1

Cited by 12 publications

(8 citation statements)

References 25 publications

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“…However, recent advances in technology, such as optical coherence tomography and fundus autofluorescence (FAF) imaging, have elucidated the morphology of the RP-affected retina and its correlation with visual function. 1 – 7 …”

Section: Introductionmentioning

confidence: 99%

Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa

Ogino¹,

Oishi²,

Oishi³

et al. 2015

OPTH

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PurposeTo describe the peripheral autofluorescence images and clinical features of patients with retinal dystrophy who showed radial fundus autofluorescence (FAF) at the posterior pole.MethodsThe authors retrospectively reviewed pooled wide-field FAF images of 711 patients with retinal dystrophy and 56 family members.ResultsEleven eyes of seven women exhibited radial FAF at the posterior pole. Wide-field FAF showed extension of the radial pattern to the periphery in all eyes except one. One woman showed radial hyper-FAF only in the periphery, not at the posterior pole. These eight individuals were X-linked retinitis pigmentosa patients or carriers. The tapetal-like reflex was not observed in their color fundus photographs. The peripheral visual field showed wedge-shaped restriction in some individuals.ConclusionWide-field FAF imaging can depict radial FAF not only at the posterior pole but also in the periphery in X-linked retinitis pigmentosa carriers. The authors therefore agree with previous reports that radial FAF may be a hallmark of X-linked retinitis pigmentosa.

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Section: Introductionmentioning

confidence: 99%

Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa

Ogino¹,

Oishi²,

Oishi³

et al. 2015

OPTH

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“…In a recent study, outer retinas of 12 CORDs patients with macular atrophy on fundoscopy were analyzed using SD-OCT [16]. Foveal IZ, EZ, and ELM were disrupted in 100%, 92%, and 83% of cases, respectively, whereas the RPE layer was always preserved.…”

Section: Discussionmentioning

confidence: 99%

“…According to Lima et al, the lack of visibility of the IZ on SD-OCT could be linked to the loss or the shortening of the cone outer segments, reducing the possibility of proper interdigitation with the apical processes of the RPE cells [16]. Similarly, in COD animal models, there is a loss of the inner and outer cone segments, or there are alterations in the anatomic configuration of the apical processes [17,18].…”

Section: Discussionmentioning

confidence: 99%

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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Boulanger-Scemama

Mohand‐Saïd

Shamieh

et al. 2019

IJMS

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Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of 58 subjects with molecular diagnosis of COD/CORDs were analyzed through specific retinal imaging including spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (BAF/IRAF). Findings were analyzed with the underlying genetic defects. A ring of increased autofluorescence was mainly observed in patients with CRX and GUCY2D mutations (33% and 22% of cases respectively). “Speckled” autofluorescence was observed with mutations in three different genes (ABCA4 64%; C2Orf71 and PRPH2, 18% each). Peripapillary sparing was only found in association with mutations in ABCA4, although only present in 40% of such genotypes. Regarding SD-OCT, specific outer retinal abnormalities were more commonly observed in particular genotypes: focal retrofoveal interruption and GUCY2D mutations (50%), foveal sparing and CRX mutations (50%), and outer retinal atrophy associated with hyperreflective dots and ABCA4 mutations (69%). This study outlines the phenotypic heterogeneity of COD/CORDs hampering statistical correlations. A larger study correlating retinal imaging with genetic results is necessary to identify specific clinical features that may help in selecting pathogenic variants generated by high-throughput sequencing.

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“…However, it is not clear whether the early change in the IZ is specific to CORD, because it is sensitive to photoreceptor impairment and is vulnerable to disruption in most macular diseases on OCT [30] . Another notable disruption and loss occurs on the ISe, corresponding to the gradually destroyed ellipsoid portion of the photoreceptor inner segment [31][32] , which is observed on SD-OCT of some patients [33] . In advanced stages, such as patient 3 in our study, outer retinal structures, including the ELM, ISe and IZ have atrophied, even including the RPE and choroid.…”

Section: Cord With Crx In Chinese Patientsmentioning

confidence: 95%

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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Tomographic comparison of cone-rod and rod-cone retinal dystrophies

Abstract: Eyes with CRD and RP had significant differences in foveal morphology, even when visual acuity was matched. This result supports the notion that absence of an IZ and the presence of foveal cavitation is related to cone-dominant photoreceptor impairment.

Cited by 12 publications

References 25 publications

Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa

Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

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

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