Dataset Information

Characterization of Choriocapillaris and Choroidal Abnormalities in Alport Syndrome.

ABSTRACT:

Purpose

To analyze the characteristics of the choriocapillaris and the choroid in patients with Alport syndrome (AS) and investigate their clinical and demographic associations.

Methods

Multicenter, cross-sectional study. Forty-two eyes with AS were consecutively enrolled. A cohort of 33 healthy eyes was included as controls. Demographics and medical history were collected for each participant. Each eye underwent 3 × 3 swept-source optical coherence tomography angiography (PLEX Elite 9000 2.0; Carl Zeiss Meditec, Dublin, CA, USA) and spectral-domain OCT (Spectralis HRA2; Heidelberg Engineering, Heidelberg, Germany). Choriocapillaris flow deficit (FD) number, mean FD size, total FD area, FD density, subfoveal choroidal thickness (CT), total CT, and choroidal vascularity index (CVI) were compared between AS and control eyes. Factors associated with the FD density and the CVI in AS were explored with multivariable linear mixed models.

Results

There was high intragroup variability in choriocapillaris and choroidal measurements in patients with AS. Choriocapillaris FD in patients with AS were more numerous compared to controls (P = 0.02). FD density in eyes with AS increased with older age (estimate = 0.31% for each year; 95% confidence interval [CI], 0.06-0.57; P = 0.02) and was higher in patients with a history of kidney transplant (estimate = 9.66% in case of positive history; 95% CI, 3.52-15.8; P = 0.006). The CVI was lower in eyes with dot maculopathy (estimate = -3.30% if present; 95% CI, -6.38 to -0.21; P = 0.04) and anterior lenticonus (estimate = -6.50% if present; 95% CI, -10.99 to -2.00; P = 0.006).

Conclusions

Patients with AS with kidney involvement requiring transplant may present with more severe choriocapillaris impairment. Lower choroidal vascularity was found in the presence of other ocular structural abnormalities.

Translational relevance

An increased load of choriocapillaris flow deficits on optical coherence tomography angiography was found in patients with Alport syndrome who also had severe kidney disease requiring transplant.

SUBMITTER: Cicinelli MV

PROVIDER: S-EPMC8944388 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

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Publications

Characterization of Choriocapillaris and Choroidal Abnormalities in Alport Syndrome.

Cicinelli Maria Vittoria MV Ritter Markus M Tausif Hassan H Ghossein Cybele C Aschauer Constantin C Laccone Franco F Nagel Mato M Jampol Lee M LM Gill Manjot K MK

Translational vision science & technology 20220301 3

<h4>Purpose</h4>To analyze the characteristics of the choriocapillaris and the choroid in patients with Alport syndrome (AS) and investigate their clinical and demographic associations.<h4>Methods</h4>Multicenter, cross-sectional study. Forty-two eyes with AS were consecutively enrolled. A cohort of 33 healthy eyes was included as controls. Demographics and medical history were collected for each participant. Each eye underwent 3 × 3 swept-source optical coherence tomography angiography (PLEX El ...[more]

PMID: 35311929

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Project description:PurposeWhen performed for clinically significant carotid artery stenosis (CAS), the long-term impact of carotid endarterectomy (CEA) on choroidal and choriocapillaris (CC) circulation was studied using swept-source OCT angiography.DesignProspective observational study.ParticipantsPatients with clinically significant CAS undergoing unilateral CEA.MethodsSwept-source OCT angiography scans were performed on both eyes at baseline (before CEA), within 1 week post-CEA (short-term follow-up [FU]), and ≥30 days post-CEA (long-term FU). Using validated algorithms, we measured mean choroidal thickness (MCT), choroidal vascularity index (CVI), choroidal vessel volume (CVV), CC flow deficit percentage (CC FD%), and CC thickness within the 5-mm circle centered on the fovea for both the eye ipsilateral to CEA (surgical side) and the contralateral eye (nonsurgical side). Multivariable regression analysis was conducted to evaluate the impact of baseline demographic and clinical factors on the changes in choroidal and CC parameters.Main outcome measuresBoth the short- and long-term changes in MCT, CVI, CVV, CC FD%, and CC thickness.ResultsThe study included 58 eyes from 29 patients. Significant short-term improvements in MCT (P < 0.001) and CC thickness (P = 0.006) were observed post-CEA on the surgical side. Long-term FU showed sustained increases in MCT compared with baseline (P = 0.02), while CC thickness was not significantly different from baseline (P = 0.10). The CVI did not change significantly from baseline at either short-term (P = 0.45) or long-term (P = 0.22) FU on the surgical side. While CVV demonstrated a short-term rise immediately post-CEA (P < 0.001), the difference was not statistically significant at the long-term evaluation (P = 0.06). No significant improvement in CC FD% from baseline was observed at any visit post-CEA (short-term P = 0.81, long-term P = 0.91). The nonsurgical side only showed a significant reduction in CVI at the long-term FU visit compared with before CEA (P = 0.01). Clinical variables such as age, degree of stenosis, diabetes, hypertension, and smoking status did not greatly impact the outcomes.ConclusionsUnilateral CEA demonstrated a sustained increase in MCT, suggesting persistent improvements in choroidal perfusion in the ipsilateral eye.Financial disclosuresProprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Project description:Alport syndrome (AS) is a hereditary kidney disease associated with proteinuria, hematuria and progressive kidney failure. It is characterized by a defective glomerular basement membrane caused by mutations in type IV collagen genes COL4A3/A4/A5 which result in defective type IV collagen α3, α4, or α5 chains, respectively. Alport syndrome has three different patterns of inheritance: X-linked, autosomal and digenic. In a study of CKD of unknown etiology type IV collagen gene mutations accounted for the majority of the cases of hereditary glomerulopathies which suggests that AS is often underrecognized. The natural history and prognosis in patients with AS is variable and is determined by genetics and environmental factors. At present, no preventive or curative therapies exist for AS. Current treatment includes the use of renin-angiotensin-aldosterone system inhibitors which slow progression of kidney disease and prolong life expectancy. Ramipril was found in retrospective studies to delay the onset of ESKD and was recently demonstrated to be safe and effective in children and adolescents, supporting that early initiation of Renin Angiotensin Aldosterone System (RAAS) blockade is very important. Mineralocorticoid receptor blockers might be favorable for patients who develop "aldosterone breakthrough." While the DAPA-CKD trial suggests a beneficial effect of SGLT2 inhibitors in CKD of non-metabolic origin, only a handful of patients had Alport in this cohort, and therefore conclusions can't be extrapolated for the treatment of AS with SGLT2 inhibitors. Advances in our understanding on the pathogenesis of Alport syndrome has culminated in the development of innovative therapeutic approaches that are currently under investigation. We will provide a brief overview of novel therapeutic targets to prevent progression of kidney disease in AS. Our review will include bardoxolone methyl, an oral NRf2 activator; lademirsen, an anti-miRNA-21 molecule; sparsentan, dual endothelin type A receptor (ETAR) and angiotensin 1 receptor inhibitor; atrasentan, oral selective ETAR inhibitor; lipid-modifying agents, including cholesterol efflux transporter ATP-binding cassette A1 (ABCA1) inducers, discoidin domain receptor 1 (DDR1) inhibitors and osteopontin blocking agents; the antimalarial drug hydroxychloroquine; the antiglycemic drug metformin and the active vitamin D analog paricalcitol. Future genomic therapeutic strategies such as chaperone therapy, genome editing and stem cell therapy will also be discussed.

Dataset Information

Characterization of Choriocapillaris and Choroidal Abnormalities in Alport Syndrome.

Purpose

Methods

Results

Conclusions

Translational relevance

Publications

Characterization of Choriocapillaris and Choroidal Abnormalities in Alport Syndrome.

Similar Datasets

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