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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| 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. |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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All patients diagnosed with congenital ectopia lentis at Zhongshan ophthalmic center.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Dangying Zheng, M.D | Contact | 020-87330478 | zhengdyy@163.com |
| Name | Affiliation | Role |
|---|---|---|
| Danying Zheng | Guangdong Provincial Clinical Research Center for Ocular Diseases | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| 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 | Recruiting | Guangzhou | Guangdong | 510060 |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 35201721 | Result | Kaur K, Gurnani B. Ectopia Lentis. 2023 Jun 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK578193/ | |
| 32169922 | Result | 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. |
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Study protocol and results will be published in a peer-reviewed journal.
Data will be available on December 2027 for 10 years.
Data are available upon reasonable request by contacting with the corresponding author.
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| ID | Term |
|---|---|
| D004479 | Ectopia Lentis |
| D007906 | Lens Subluxation |
| ID | Term |
|---|---|
| D005124 | Eye Abnormalities |
| D005128 | Eye Diseases |
| D007905 | Lens Diseases |
| D000013 | Congenital Abnormalities |
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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. |
| China |
|
| 33844962 | Result | 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. |
| 4662920 | Result | 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. |
| 30225232 | Result | 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. |
| 34247162 | Result | 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. |
| 34061947 | Result | 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. |
| 34281902 | Result | 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. |
| 9541430 | Result | 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. |
| 29698085 | Result | 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. |
| 36243894 | Result | 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. |
| 34935768 | Result | 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. |
| 37369426 | Derived | Xu P, Ng K, Jin L, Young CA, Liu S, Liang X, Liu Z, Zhang X, Jin G, Zheng D. Visual prognosis and complications of congenital ectopia lentis: study protocol for a hospital-based cohort in Zhongshan Ophthalmic Center. BMJ Open. 2023 Jun 27;13(6):e072542. doi: 10.1136/bmjopen-2023-072542. |
| D009358 |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |