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

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.

Study Overview

• Status: Recruiting
• Conditions: Ectopia Lentis; Dislocation, Lens

Detailed Description

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 (Estimated): 604

Contacts and Locations

• Study Contact: Name: Dangying Zheng, M.D; Phone Number: 020-87330478; Email: zhengdyy@163.com

Study Locations

• China
  • Guangdong
    • Guangzhou, Guangdong, China, 510060
      • Recruiting
      • 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
      • Principal Investigator: Dangying Zheng, MD
      • Contact: Yizhi Liu, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

All patients diagnosed with congenital ectopia lentis at Zhongshan ophthalmic center.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Non-surgical group: Refractive change, ocular parameter changes, and prognosis without surgery; 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; 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?

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
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.
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
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
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.
Genetic mutation state of patients	Draw blood to detect the exact gene mutations in patients via whole-exome sequencing.	Preoperation
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
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.
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
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.
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.
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.

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.
Genetic mutation state of patients	Draw blood to detect the exact gene mutations in patients via whole-exome sequencing.	Preoperation
Choroidal thickness	Choroidal thickness will be measured with OCT images.	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.
Choriocapillaris flow deficits	Choriocapillaris flow deficits will be measured with OCTA images.	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.
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 1, 2, 3 years after enrollment. Surgical group is evaluated at preoperation and 1, 2, 3 years postoperation.

Collaborators and Investigators

• Sponsor: Zhongshan Ophthalmic Center, Sun Yat-sen University
• Investigators: Principal Investigator: Danying Zheng, Guangdong Provincial Clinical Research Center for Ocular Diseases

Publications and helpful links

General Publications

• Lin J, Gong N, Cao Q, Zhou Y, Cai Y, Jin G, Young CA, Yang J, Wang Y, Zheng D. What hinders congenital ectopia lentis patients' follow-up visits? A qualitative study. BMJ Open. 2020 Mar 12;10(3):e030434. doi: 10.1136/bmjopen-2019-030434.
• Guo D, Jin G, Zhou Y, Zhang X, Cao Q, Lian Z, Guo Y, Zheng D. Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients. Exp Eye Res. 2021 Jun;207:108570. doi: 10.1016/j.exer.2021.108570. Epub 2021 Apr 16.
• Minsel WR, Bommert H, Pieritz R. [Relationship between speech--formal psychotherapeutic signs and results of client-centered discussion psychotherapy]. Z Klin Psychol Psychother. 1972;20(4):303-10. No abstract available. German.
• Jin GM, Fan M, Cao QZ, Lin JX, Zhang YC, Lin JQ, Wang YY, Young CA, Zheng DY. Trends and characteristics of congenital ectopia lentis in China. Int J Ophthalmol. 2018 Sep 18;11(9):1545-1549. doi: 10.18240/ijo.2018.09.19. eCollection 2018.
• Meng X, Cao X, Jia Y, Pan J, Du Y, Li X. Sutured Scleral Fixation of Posterior Chamber Intraocular Lens in Children under the Age of 9 with Congenital Ectopia Lentis. Ophthalmic Res. 2021;64(5):837-843. doi: 10.1159/000516324. Epub 2021 Jul 9.
• Chen T, Chen J, Jin G, Zhang M, Chen Z, Zheng D, Jiang Y. Clinical Ocular Diagnostic Model of Marfan Syndrome in Patients With Congenital Ectopia Lentis by Pentacam AXL System. Transl Vis Sci Technol. 2021 Jun 1;10(7):3. doi: 10.1167/tvst.10.7.3.
• Chen Z, Chen T, Zhang M, Chen J, Deng M, Zheng J, Lan LN, Jiang Y. Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis. Br J Ophthalmol. 2022 Dec;106(12):1655-1661. doi: 10.1136/bjophthalmol-2021-319084. Epub 2021 Jul 19.
• Fuchs J, Rosenberg T. Congenital ectopia lentis. A Danish national survey. Acta Ophthalmol Scand. 1998 Feb;76(1):20-6. doi: 10.1034/j.1600-0420.1998.760105.x.
• Zhang Y, Jin G, Young CA, Cao Q, Lin J, Lin J, Wang Y, Zheng D. Analysis of Corneal Astigmatism before Surgery in Chinese Congenital Ectopia Lentis Patients. Curr Eye Res. 2018 Aug;43(8):972-976. doi: 10.1080/02713683.2018.1470248. Epub 2018 May 23.
• Chen H, Ng KY, Li S, Jin G, Cao Q, Lian Z, Luo X, Ding X, Zheng D. CHARACTERISTICS OF THE FOVEAL MICROVASCULATURE IN CHILDREN WITH MARFAN SYNDROME: An Optical Coherence Tomography Angiography Study. Retina. 2022 Jan 1;42(1):138-151. doi: 10.1097/IAE.0000000000003272.
• Liu L, Li X, Cao Q, Lian Z, Wu J, Jin G, Zheng D. A Modified Knotless Transscleral Intraocular Lens Fixation Technology for Congenital Ectopia Lentis. Ophthalmol Ther. 2023 Feb;12(1):99-110. doi: 10.1007/s40123-022-00586-9. Epub 2022 Oct 15.
• Kaur K, Gurnani B. Ectopia Lentis. 2023 Jun 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK578193/

Study record dates

Study Major Dates

• Study Start (Actual): December 5, 2022
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027

Study Registration Dates

• First Submitted: November 17, 2022
• First Submitted That Met QC Criteria: December 6, 2022
• First Posted (Actual): December 16, 2022

Study Record Updates

• Last Update Posted (Actual): August 7, 2024
• Last Update Submitted That Met QC Criteria: August 6, 2024
• Last Verified: August 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Eye Diseases; Congenital Abnormalities; Eye Abnormalities; Pathological Conditions, Anatomical; Lens Diseases; Lens Subluxation; Ectopia Lentis; Choristoma
• Other Study ID Numbers: 2022KYPJ207

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Study protocol and results will be published in a peer-reviewed journal.
• IPD Sharing Time Frame: Data will be available on December 2027 for 10 years.
• IPD Sharing Access Criteria: Data are available upon reasonable request by contacting with the corresponding author.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No