This is a single-centre, observational cohort study with the following objectives: Firstly, the investigators aim to evaluate the vision-related quality of life and mental health status in congenital ectopia lentis patients. Secondly, the investigators target to investigate the correlations between genotype and clinical phenotype in patients of congenital ectopia lentis. Thirdly, to explore the metabolic profiles in the aqueous humor (AH) of patients with congenital ectopia lentis. Lastly, this study aims to explore the longitudinal changes of ocular biological parameters and complications in patients with postoperative congenital ectopia lens in the Chinese population.
Congenital ectopia lens is a rare ophthalmic disease that seriously harms the physical and mental health of patients. Surgery is the only definite treatment at present. However, the changes in vision-related quality of life, mental health status, ocular biological parameters postoperative congenital dislocation of lens have not been systematically studied in the Chinese population. In this trial, the investigators aim to evaluate the vision-related quality of life and mental health status in congenital ectopia lentis patients, investigate the correlations between genotype and clinical phenotype in patients of congenital ectopia lentis, explore the metabolic profiles in the aqueous humor (AH) of patients with congenital ectopia lentis, and explore the longitudinal changes of ocular biological parameters and complications in patients with postoperative congenital ectopia lens in the Chinese population.
Study Type
OBSERVATIONAL
Enrollment
604
Guangdong Provincial Clinical Research Center for Ocular Diseases, State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science
Guangzhou, Guangdong, China
RECRUITINGChange of best corrected visual acuity
Best corrected visual acuity (BCVA) is evaluated with an ETDRS chart at each visit.
Time frame: Non-surgical group is evaluated at first visit, and 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation, 3 months, and 1, 2, 3 years postoperation
Incidence of complications
Estimate the incidence of complications for both non-surgical group and surgical group.
Time frame: Non-surgical group is evaluated at first visit, and 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation, 3 months, and 1, 2, 3 years postoperation.
Change of axial length
Axial length will be evaluated with ZEISS IOLMaster 700 at each visit.
Time frame: Non-surgical group is evaluated at first visit, and 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation, 3 months, and 1, 2, 3 years postoperation.
High order aberrations
High order aberrations will be assessed with Nidek OPD-Scan III at each visit.
Time frame: Non-surgical group is evaluated at first visit, and 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation, 3 months, and 1, 2, 3 years postoperation
Central cornea endothelial cell loss
Central cornea endothelial cell loss will be calculated with endokeratoscope in surgical group.
Time frame: Preoperation, and 3 months, and 1, 2, 3 years postoperation
The state of zonules
The state of zonules will be assessed using ultrasound biomicroscopy.
Time frame: Non-surgical group is assessed at first visit, and 1, 2, 3 years after enrollment. Surgical group will be assessed preoperation.
Anterior chamber angle.
Anterior chamber angle will be assessed using Tomey Casia 2 anterior segment optical coherence tomography (OCT).
Time frame: Non-surgical group is assessed at first visit, and 1, 2, 3 years after enrollment. Surgical group will be assessed preoperation, 3 months, and 1, 2, 3 years postoperation.
Tilt and eccentricity of intraocular lens
Tilt and eccentricity of intraocular lens was evaluated with Pentacam in surgical group.
Time frame: 3 months, and 1, 2, 3 years postoperation
Intraocular pressure
Intraocular pressure with non-contact-tonometer at each visit.
Time frame: Non-surgical group is evaluated at first visit, and 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation, 3 months, and 1, 2, 3 years postoperation.
Aortic root diameter
Aortic root diameter will be measured using echocardiography.
Time frame: Non-surgical group is evaluated at first visit, and 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation and 1, 2, 3 years postoperation
Aortic Root (Sinuses of Valsalva) Z-score, adjusted by body-surface-area (Z-score)
Z-Score will be calculated using the Marfan foundation's calculator (https://marfan.org/dx/zscore-children/). Normal Z-score range from -2 to 2. A dilated aortic root is defined as a Z-score ≥2.0. A larger Z-score is associated with an increased risk of aortic complications such as dissection, rupture, and valvular regurgitation.
Time frame: Non-surgical group is evaluated at first visit, and 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation and 1, 2, 3 years postoperation
Incidence of valvular heart disease
The incidence of valvular heart disease (VHD) is defined as the ratio of patients diagnosed with VHD to the total number of patients enrolled.
Time frame: Non-surgical group is evaluated at first visit, and 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation and 1, 2, 3 years postoperation
Body mass index (BMI)
Body mass index (BMI) is a person's weight in kilograms divided by the square of height in meters. The normal range for the Chinese population is 18.5 to 23.9. A high BMI can indicate high body fatness.
Time frame: Non-surgical group is evaluated at first visit, and 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation and 1, 2, 3 years postoperation.
Metacarpophalangeal joint length
Metacarpophalangeal joint length will be measured using palmar radiograph.
Time frame: Non-surgical group is evaluated at first visit, and 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation and 1, 2, 3 years postoperation.
Choroidal thickness
Choroidal thickness will be measured with optical coherence tomography (OCT) images.
Time frame: Non-surgical group is evaluated at first visit and 3 years after enrollment. Surgical group is evaluated at preoperation and 3 years postoperation.
Choriocapillaris flow deficits
Choriocapillaris flow deficits will be measured with optical coherence tomography angiography (OCTA) images.
Time frame: Non-surgical group is evaluated at first visit and 3 years after enrollment. Surgical group is evaluated at preoperation and 3 years postoperation.
Genetic mutation state of patients
Draw blood to detect the exact gene mutations in patients via whole-exome sequencing.
Time frame: Preoperation
Vision-related quality of life
Vision-related quality of life will be assessed with the Pediatric Eye Questionnaire (PedEyeQ).
Time frame: Non-surgical group is evaluated at first visit and 3 years after enrollment. Surgical group is evaluated at preoperation and 3 years postoperation.
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