Congenital Cataract Clinical Trial
Official title:
Genetic Diagnosis and Phenotype-genotype Correlation in a Large Chinese Cohort of Congenital Cataracts
The prediction of genetic risk in congenital cataract patients has great clinical significance. In this trial, the investigators aim to screen the causative variants from 115 unrelated bilateral congenital cataract patients enrolled consecutively, describe novel and recurrent variants, analyze the factors affecting genetic diagnostic yield, and explore potential phenotype-genotype correlation.
Determining whether the disease is hereditary and the precise genetic cause of congenital cataract has great clinical significance in guiding genetic counseling and improving clinical care pathway. Varying among studies, genetic causes account for 8.3-85% of congenital cataracts because of the difference in ethnic background, genetic screening techniques used, the percentage of patients with bilateral cataracts, with a family history, and with syndromic disease. A phenotype-genotype correlation may be used to predict the causative genes, and the involvement of other tissues and organs based on the appearance of the lens. In addition, it can be used to improve our understanding of lens biology. A phenotype-genotype correlation is difficult to establish because of the genotypic and phenotypic heterogeneity of congenital cataracts. In this trail, the investigators aim to screen the causative variants from 115 unrelated bilateral congenital cataract patients enrolled consecutively, describe novel and recurrent variants, analyze the factors affecting genetic diagnostic yield, and explore potential phenotype-genotype correlation. Facial and anterior eye segment photographs, pre- and post-operative ocular parameters, and medical and family histories were recorded. Bioinformatics analysis was performed using whole-exome sequencing data. Statistical and correlation analyses were performed using the basic characteristics, deep phenotype, and genotype data. ;
Status | Clinical Trial | Phase | |
---|---|---|---|
Recruiting |
NCT05136209 -
Comparison of Posterior Continuous Curvilinear Capsulorhexis With or Without Anterior Vitrectomy
|
N/A | |
Recruiting |
NCT05275764 -
Comparison of the Efficacy of Intraocular Lens Optic Capture and In-the-bag Implantation Over 1 Year in Children With Congenital Cataract
|
||
Recruiting |
NCT03342794 -
Morphologic and Biometric Characteristics of Preexisting Posterior Capsule Defects in Congenital Cataracts During the First Year of Life
|
N/A | |
Completed |
NCT01297153 -
Aphakia Versus Pseudophakia in Children Under 2 Years Undergoing Bilateral Congenital Cataract Surgery
|
Phase 4 | |
Completed |
NCT04120818 -
Inflammatory Cytokines in Congenital Cataract After Lensectomy and Anterior Vitrectomy
|
||
Recruiting |
NCT04824963 -
Analysis of Related Factors Affecting the Secondary Implantation of Intraocular Lens in Congenital Cataract
|
||
Recruiting |
NCT04323982 -
Comparison of Traditional Cataract Surgery and Traditional Surgery Combined Triamcinolone Staining
|
N/A | |
Completed |
NCT02158325 -
Capsulorhexis Size and Capsular Outcome
|
N/A | |
Completed |
NCT03621579 -
Analysis of Retinal Nerve Fiber Layer and Macular Thickness After Congenital Cataract Surgery
|
N/A | |
Recruiting |
NCT03564990 -
The Impact of Interactive, Multifaceted Approach Education on Congenital Cataract
|
N/A | |
Not yet recruiting |
NCT05282147 -
Digital Imaging Versus Ophthalmoscopy
|
N/A | |
Not yet recruiting |
NCT03125785 -
The Effect of Ophthalmic Solutions on Contact Lenses Used After Surgery for Congenital Cataract Investigated in Vivo
|
N/A | |
Recruiting |
NCT04976608 -
Relationship of Retinal and Visual Cortex Structure and Visual Acuity After Congenital Cataract Surgery
|
||
Completed |
NCT03778086 -
Iridocorneal Angle and Anterior Segment Structure in Eyes of Children With Cataract
|
||
Recruiting |
NCT03230799 -
Comparison of Minimal Invasive Lens Surgery and Traditional Cataract Surgery
|
N/A | |
Recruiting |
NCT04759560 -
Biometric Characteristics of the Eye With Microcornea/Microphthalmia and Congenital Cataract Before And After Cataract Extraction
|
||
Completed |
NCT02132312 -
A Randomized Study in Children Ages Birth Through Three Years Undergoing Unilateral Cataract Extraction With or Without Lens Replacement
|
Phase 3 | |
Completed |
NCT01136473 -
Mechanism of Aphakic and Pseudophakic Glaucoma in Pediatric Patients
|
N/A | |
Completed |
NCT03242629 -
Comparison Between Oral and Enema of Chloral Hydrate
|
N/A | |
Completed |
NCT04077489 -
Effects of 23-gauge Lensecotomy Combined With Anterior Vitrectomy on Macular in Children With Congenital Cataract
|
N/A |