Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24483
Abstract: ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL), reported ocular comorbidities of which include iris anomalies, cataract, and glaucoma. However, a genotype–phenotype correlation has not been established. Potentially pathogenic ADAMTSL4… read more here.
Keywords: adamtsl4 variants; congenital ectopia; ectopia lentis; genotype phenotype ... See more keywords
Zonule Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of glaucoma"
DOI: 10.1097/ijg.0000000000002209
Abstract: PRCIS We report three novel variants in FBN1 and LTBP2 in three families with isolated ectopia lentis (EL), which shed new lights on the diagnosis and genetic counseling of EL and secondary glaucoma in clinical… read more here.
Keywords: isolated ectopia; glaucoma; zonule; ectopia lentis ... See more keywords
Novel p.G1344E mutation in FBN1 is associated with ectopia lentis
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Ophthalmology"
DOI: 10.1136/bjophthalmol-2019-315265
Abstract: Background Ectopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations… read more here.
Keywords: lentis; mutation fbn1; family; ectopia lentis ... See more keywords
Characteristics of Anterior Segment in Congenital Ectopia Lentis: An SS-OCT Study
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Ophthalmology"
DOI: 10.1155/2022/6128832
Abstract: Purpose To investigate the characteristics of anterior chamber angle parameters in congenital ectopia lentis (CEL) patients and to evaluate the sensitivity and specificity of anterior segment parameters in distinguishing CEL from healthy controls. Setting. Zhongshan… read more here.
Keywords: angle parameters; ectopia lentis; anterior segment; angle ... See more keywords
Trends and characteristics of congenital ectopia lentis in China.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2018.09.19
Abstract: AIM To elucidate the trends and characteristics of congenital ectopia lentis (CEL) in southern China. METHODS CEL patients from China admitted to Zhongshan Ophthalmic Center (ZOC) from January 2006 to December 2015 were recruited in… read more here.
Keywords: congenital ectopia; trends characteristics; ectopia lentis; characteristics congenital ... See more keywords
Traboulsi Syndrome in Pakistan.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.29271/jcpsp.2019.06.s37
Abstract: Traboulsi syndrome is characterised by facial dysmorphism, abnormal spontaneous filtering blebs, ectopia lentis and multiple anterior segment abnormalities. The constellation of abnormalities separate it from syndromes related to connective tissue abnormalities which are associated with… read more here.
Keywords: traboulsi syndrome; syndrome pakistan; ectopia lentis;
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14040791
Abstract: Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic… read more here.
Keywords: lentis; requiring surgery; genetic testing; ectopia lentis ... See more keywords
Technique of using Cionni capsular tension ring in the management of of ectopia lentis cases
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_153_22
Abstract: Background: Ectopia lentis is a condition that compromises vision in childhood by inducing either double vision or aphakic visual axis. Correction of lens status is of prime importance to prevent amblyopia or sensory strabismus. Purpose:… read more here.
Keywords: cionni; cionni capsular; cionni ctr; ectopia lentis ... See more keywords
Outcomes of surgical intervention in cases of ectopia lentis
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_255_22
Abstract: Purpose: To evaluate the outcomes of surgical intervention in cases of ectopia lentis. Methods: This retrospective study included all cases of ectopia lentis that presented between June 2015 and March 2019 in a tertiary care… read more here.
Keywords: outcomes surgical; surgery; ectopia lentis; cases ectopia ... See more keywords