Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy?

Ayyıldız, Önder; Özge, Gökhan; Küçükevcilioğlu, Murat; Özgönül, Cem; Mumcuoğlu, Tarkan; Durukan, Ali Hakan; Mutlu, Fatih Mehmet

doi:10.5935/0004-2749.20160090

Cited by 7 publications

(7 citation statements)

References 14 publications

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“…[4,5,19] However, other studies did not find such correlations. [10,13,16,18] This difference may be due to a higher number of subjects and a longer duration of ocular symptoms in the present study. Ayton et al [4] reported that choroid becomes thinner with increasing duration of RP symptoms, which is consistent with the findings of the present study.…”

Section: Discussionmentioning

confidence: 68%

“…[12] Measurement of the choroidal thickness can be informative in determining the pathophysiology and natural course of IRDs. [13][14][15] Some studies have reported a significant reduction in the choroidal thickness in RP, [4,15,16] Stargardt disease, [17] and cone dystrophy [18] when compared with healthy controls. However, no difference was observed in other studies.…”

Section: Introductionmentioning

confidence: 99%

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Choroidal Thickness in Different Types of Inherited Retinal Dystrophies

Sabbaghi

Ahmadieh

Jalili

et al. 2020

JOVR

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Purpose: To compare the choroidal thickness among eyes with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, cone-rod dystrophy, and healthy eyes of sex- and age-matched individuals. Methods: In this comparative study, 503 eyes with RP (n = 264), cone-rod dystrophy (n = 109), Stargardt disease (n = 76), and Usher syndrome (n = 54) were included. To validate the data, 109 healthy eyes of 56 sex- and age-matched individuals were studied as controls. Choroidal imaging was performed using enhanced depth imaging-optical coherence tomography. Choroidal thickness was measured manually using MATLAB software at 13 points in nasal and temporal directions from the foveal center with the interval of 500 μm and the choroidal area encompassing the measured points was calculated automatically. Results: The mean age was 36.33 ± 13.07 years (range, 5 to 72 years). The mean choroidal thickness at 13 points of the control eyes was statistically significantly higher than that in eyes with RP (P < 0.001) and Usher syndrome (P < 0.05), but not significantly different from that in eyes with Stargardt disease and cone-rod dystrophy. Among different inherited retinal dystrophies (IRDs), the choroidal thickness was the lowest in eyes with RP (P < 0.001). Choroidal thickness in the subfoveal area correlated negatively with best-corrected visual acuity (r = −0.264, P < 0.001) and the duration of ocular symptoms (r = −0.341, P < 0.001) in all studied IRDs. No significant correlation was observed between the subfoveal choroidal thickness and central macular thickness (r = −0.24, P = 0.576). Conclusion: Choroidal thinning in four different types of IRDs does not follow a similar pattern and depends on the type of IRD and the duration of ocular symptoms. A larger cohort is required to verify these findings.

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Section: Discussionmentioning

confidence: 68%

Section: Introductionmentioning

confidence: 99%

Choroidal Thickness in Different Types of Inherited Retinal Dystrophies

Sabbaghi

Ahmadieh

Jalili

et al. 2020

JOVR

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“…Choroid thinning has been described in IRDs, such as RP, rod-cone dystrophies and CDs, using SD-OCT, which is probably secondary to a loss of photoreceptor and RPE cells. Vascular endothelial growth factor, which is produced by RPE cells, has been demonstrated to participate in choroidal maintenance; therefore, it has been suggested to play a role in choroidal atrophy [33][34][35]. In addition, a reduction of the choriocapillaris density has been described in patients affected by RP using OCTA [10,17].…”

Section: Discussionmentioning

confidence: 99%

Cone Dystrophies: An Optical Coherence Tomography Angiography Study

Toto

Parodi

D’Aloisio

et al. 2020

JCM

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Background: This study investigates the relationship between retinal vascularization and macular function in patients with cone dystrophies (CDs). Methods: Twenty CD patients (40 eyes) and 20 healthy controls (20 eyes) were enrolled in this prospective case-control study. Patients underwent full ophthalmological examination, microperimetry, full-field, pattern and multifocal electroretinogram (ERG, PERG, mfERG) and optical coherence tomography angiography (OCTA). Main outcome measures were as follows: foveal and parafoveal inner and outer retinal thickness; microperimetry sensitivity in the central 4° and 8°, ERG b wave amplitudes and peak times, PERG P50 and N95 amplitudes and latencies, and mfERG N1 to P1 amplitudes; and superficial capillary plexus (SCP), deep capillary plexus (DCP) and choriocapillary (CC) plexus vessel densities, divided into foveal and parafoveal region. Results: Retinal thickness, SCP and DCP densities were significantly related to PERG. A significant relationship was found between foveal and parafoveal retinal thicknesses and foveal SCP density (p < 0.001 and p = 0.018, respectively) and between parafoveal retinal thickness and parafoveal SCP density (p = 0.002). Foveal and parafoveal retinal thicknesses were significantly related to parafoveal DCP density (p = 0.007 and p < 0.001). Foveal and parafoveal retinal thicknesses, foveal SCP and parafoveal DPC densities were significantly reduced in CD patients compared to controls (p < 0.001; p = 0.010 and p = 0.008, respectively). PERG and mfERG amplitudes were significantly reduced in CD patients compared to controls (p < 0.01). Conclusions: CD eyes showed reduced retinal thickness significantly related to reduced vessel density, possibly caused by a decreased metabolic demand. In addition, vessel density significantly correlated with loss of function.

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“…Choroidal thinning has also been reported in RP 221,222 and cone dystrophy. 223 Sabbaghi et al recently reported that the choroidal thinning pattern was different when comparing patients with STGD1, RP, Usher syndrome and cone dystrophy. They found that patients with RP and Usher syndrome had a significantly thinner choroid than patients with STGD1 and cone dystrophy which led the authors to suggest that IRDs might have different alterations to blood flow 224 or it may be that there is secondary reduction to flow in more severe diseases.…”

Section: Icga In Stgd1mentioning

confidence: 99%

The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions

et al. 2021

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The aim of this review article is to describe the specific features of Stargardt disease and ABCA4 retinopathies (ABCA4R) using multimodal imaging and functional testing and to highlight their relevance to potential therapeutic interventions. Standardised measures of tissue loss, tissue function and rate of change over time using formal structured deep phenotyping in Stargardt disease and ABCA4R are key in diagnosis, and prognosis as well as when selecting cohorts for therapeutic intervention. In addition, a meticulous documentation of natural history will be invaluable in the future to compare treated with untreated retinas. Despite the familiarity with the term Stargardt disease, this eponymous classification alone is unhelpful when evaluating ABCA4R, as the ABCA4 gene is associated with a number of phenotypes, and a range of severity. Multimodal imaging, psychophysical and electrophysiologic measurements are necessary in diagnosing and characterising these differing retinopathies. A wide range of retinal dystrophy phenotypes are seen in association with ABCA4 mutations. In this article, these will be referred to as ABCA4R. These different phenotypes and the existence of phenocopies present a significant challenge to the clinician. Careful phenotypic characterisation coupled with the genotype enables the clinician to provide an accurate diagnosis, associated inheritance pattern and information regarding prognosis and management. This is particularly relevant now for recruiting to therapeutic trials, and in the future when therapies become available. The importance of accurate genotype-phenotype correlation studies cannot be overemphasised. This approach together with segregation studies can be vital in the identification of causal mutations when variants in more than one gene are being considered as possible. In this article, we give an overview of the current imaging, psychophysical and electrophysiological investigations, as well as current therapeutic research trials for retinopathies associated with the ABCA4 gene.

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Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy?

Cited by 7 publications

References 14 publications

Choroidal Thickness in Different Types of Inherited Retinal Dystrophies

Choroidal Thickness in Different Types of Inherited Retinal Dystrophies

Cone Dystrophies: An Optical Coherence Tomography Angiography Study

The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions

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