Familial Ectopia Lentis

Last update 23 Jan 2025

Basic Info

Synonyms

Ectopia Lentis, Familial, Ectopia Lentis, Isolated, Ectopia lentis isolated

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Introduction

Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

100 Clinical Results associated with Familial Ectopia Lentis

100 Translational Medicine associated with Familial Ectopia Lentis

0 Patents (Medical) associated with Familial Ectopia Lentis

Literatures (Medical) associated with Familial Ectopia Lentis

01 Jul 2024·Journal of VitreoRetinal Diseases

Autosomal Recessive ADAMTSL4-Related Isolated Ectopia Lentis in the Ohio Old Order Amish and Mennonite Communities

Article

Author: Örge, Faruk ; Sobol, Warren ; Kloosterboer, Amy ; Chiang, TsunKang ; Echegaray, Jose J.

Purpose: To present a series of 4 patients from the Ohio Amish or Mennonite populations with isolated ectopia lentis. Methods: A case series was evaluated. Results: Four cases with bilateral lens subluxations were diagnosed with a homozygous c.767_786del pathogenic variant in ADAMTSL4. Their ages ranged from 2 to 22 years. Three cases were symptomatic and were managed surgically with lensectomy, vitrectomy, and endolaser photocoagulation with or without secondary intraocular lens (IOL) implantation. One asymptomatic patient was observed. The postoperative visual acuity ranged from 20/20 to 20/60 in nonamblyopic eyes. Conclusions: The pathogenic homozygous c.767_786del variant in ADAMTSL4 may be a cause of bilateral isolated ectopia lentis in the Ohio Amish and Mennonite populations, likely as a result of a founder effect. Vitrectomy and lens extraction with or without secondary IOL implantation may lead to good visual outcomes. There were no cases of retinal detachment.

01 Nov 2023·The Journal of the Association of Physicians of India

Familial Ectopia Lentis: Looking Beyond Marfan's Syndrome.

Article

Author: Kasthuri, Nirupama ; Hussain, Shahanaze Javath ; Subramaniyan, Vishnu Karthika ; Amalnath, Deepak

Ectopia lentis has a myriad of causes, with Marfan's syndrome and homocystinuria being well-known causes. Here, we report two siblings with ectopia lentis and tall stature presenting with a diagnostic challenge. How to cite this article: Hussain SJ, Amalnath D, Kasthuri N, et al. Familial Ectopia Lentis: Looking Beyond Marfan's Syndrome. J Assoc Physicians India 2023;71(11):94-95.

01 Jul 2023·Journal of Glaucoma

Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma

Article

Author: Zhu, Yihua ; Huang, Longxiang ; Fan, Mengjie ; Wang, Tingting ; Jiao, Xiaodong ; Xu, Tingting ; Hejtmancik, James Fielding ; Xu, Meng ; Liu, Xuyang ; Gan, Jiahe ; Zhao, Lijun ; Mao, Yukai ; Zhang, Daren

Précis:We report 3 novel variants in fibrillin-1 (FBN1) and latent transforming growth factor-β–binding protein 2 (LTBP2) in 3 families with isolated ectopia lentis (EL), which shed new light on the diagnosis and genetic counseling of EL and secondary glaucoma in clinical settings.Purpose:To explore the genetic mechanism in 3 families with isolated EL and secondary angle closure glaucoma.Methods:Three Han Chinese families with EL and glaucoma were recruited. All of the participants underwent complete ocular and general physical examinations and DNA samples were extracted from peripheral venous blood and screened for disease-causing variants using whole exome and Sanger sequencing. In silico analyses were performed to predict the structural and functional changes in gene variants and abnormal proteins.Results:All 3 probands presented with EL and pupillary-blocking glaucoma. Genetic testing showed that all the patients have zonule-related gene mutations, with the proband (II:1), as well as his mother (I:2) and daughters (III:1 and III:2) from family 1 carrying a heterozygous mutation in FBN1 gene (c.6493G>T:p.(V2165L)); the proband (II:1) from family 2 carrying a heterozygous mutation in FBN1 gene (c.2543C>A:p.(T848N)), and the proband (II:1) from family 3 carrying a pair of compound heterozygous mutations in LTBP2 gene (c.4825T>A:p.(C1609S) / c.529T>C:p.(W177R)). No other genetic variants were found to be associated with the phenotypes of patients and other family members in this study. All variants are predicted to affect the structure and function of proteins as risk factors for EL based on bioinformatics analysis.Conclusion:Four novel mutations were identified in 3 families with EL, suggesting an intimate link between specific mutations in FBN1 and LTBP2 and isolated EL and angle closure glaucoma. Our results expanded the variant spectrum of zonule-related genes and helped explore the underlying molecular pathology of these disorders.

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