Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome [PDF]
Human Genome VariationHere we report an 18-year-old male patient with bilateral ectopia lentis and biallelic CPAMD8 variants (NM_015692.5:c.[2801delG];[4552C>T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]).
Daiju Oba +5 more
doaj +3 more sources
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis [PDF]
Genes, 2023 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 ...
Claire Hardcastle +2 more
exaly +3 more sources
Visual Outcomes in Ectopia Lentis in Marfan Syndrome: A Study of Four Surgical Techniques in Children and Adults [PDF]
MedicinaBackground/Objectives: To evaluate how the surgical technique and type of implanted intraocular lens influence the postoperative visual acuity and complications in ectopia lentis associated to Marfan syndrome patients.
Anca Cristina Dogaroiu +3 more
doaj +3 more sources
Ectopia lentis et pupillae [PDF]
Revista Brasileira de Oftalmologia, 2011 The Ectopia lentis et pupillae is a rare genetic syndrome, congenital, autosomal recessive with variable expression, characterized by ectopia of the lens and the pupil, usually bilateral and symmetrical, but without systemic manifestations.
Fernanda Marcio +4 more
doaj +2 more sources
Indian Journal of Ophthalmology, 1989 A rare case of congenital bilateral ectopia lentis et pupillae (ELEP) is reported in a 32 year old female presenting with complaints of diminution of vision in both eyes.
Gupta Naresh +2 more
doaj +3 more sources
Visual outcome of intraocular Iris–Claw lens implantation in Indonesian children with ectopia lentis
Taiwan Journal of Ophthalmology, 2023 PURPOSE: The purpose of the study was to describe the visual outcomes of anterior chamber iris–claw intraocular lens (IOL) implantation in pediatric ectopia lentis.
Dian E Yulia +2 more
doaj +2 more sources
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis [PDF]
Case Reports in Genetics, 2022 Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development.
Jonas Gustafson +3 more
doaj +2 more sources
What is the best surgical approach for ectopia lentis in Marfan syndrome?
Revista Mexicana de Oftalmología, 2015 The surgical management of ectopia lentis (EL) in Marfan syndrome (MFS) represents a challenge to the ophthalmologist. We reviewed the literature on the surgical management of ectopia lentis in MFS patients from the classical pars plana lensectomy (PPL ...
Sergio Groman-Lupa +2 more
doaj +2 more sources
Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome
GMS Ophthalmology Cases, 2016 A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome is reported. A 21-year-old female presented with decreased vision in both eyes. Her unaided visual acuity was 20/200 and 20/400 in the right and left eye, respectively,
Sahu, Sabin +3 more
doaj +2 more sources
Management of ectopia lentis in children. [PDF]
Saudi J OphthalmolThe medical management of ectopia lentis involves refractive correction as well as co-management of any associated systemic disease. Surgical management remains a challenge, as inherent defects in the lens capsule make implantation of an intraocular lens (IOL) difficult.
Mandal S +7 more
europepmc +3 more sources