Follow up Study on Visual Prognosis and Complications of Ectopia Lentis Lens

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Follow up Study on Visual Prognosis and Complications of Ectopia Lentis Lens

Conditions
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Ectopia Lentis, Dislocation, Lens

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosed with congenital lens dislocation and age ≥ 3 years old. Agree to participate in this study with written informed consent from patients or legal guardians. Exclusion Criteria: History of ophthalmic trauma or other ophthalmic surgeries. Combined with other ophthalmic diseases such as primary glaucoma, uveitis and corneal disease. Patients who could not cooperate in the examinations.

Ages Eligible for Study
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Minimum Age: 3 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Non-surgical group: Refractive change, ocular parameter changes, and prognosis without surgery<br>To evaluate the long-term changes in refractive state, ocular parameter, ocular development and visual prognosis in patients without congenital ectopia lentis surgery. | |
| Surgical group: Safety and efficacy of different congenital ectopia lentis surgeries<br>To compare the safety and efficacy of different congenital ectopia lentis surgeries, including phacoemulsification， phacoemulsification + Intraocular lens (IOL) implantation， phacoemulsification + IOL implantation + Capsular Tension Ring implantation or phacoemulsification + IOL implantation + transscleral fixation. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change of best corrected visual acuity | Best corrected visual acuity (BCVA) is evaluated with an ETDRS chart at each visit. | 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. | 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. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change of axial length | Axial length will be evaluated with ZEISS IOLMaster 700 at each visit. | 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. | 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. | Preoperation, and 3 months, and 1, 2, 3 years postoperation | 
| The state of zonules | The state of zonules will be assessed using ultrasound biomicroscopy. | 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). | 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. | 3 months, and 1, 2, 3 years postoperation | 
| Intraocular pressure | Intraocular pressure with non-contact-tonometer at each visit. | 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. | 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. | 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. | 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. | 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. | 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. | 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. | 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. | Preoperation | 
| Vision-related quality of life | Vision-related quality of life will be assessed with the Pediatric Eye Questionnaire (PedEyeQ). | Non-surgical group is evaluated at first visit and 3 years after enrollment. Surgical group is evaluated at preoperation and 3 years postoperation. |