Purpose: To report the findings in a patient with congenital primary aphakia, a rare disease known to be caused by mutations in the FOXE3 gene.
Methods: The clinical appearances and visual functions of the patient were determined from the medical records. Genetic analyses were performed to search for mutations in the FOXE3 gene by Sanger sequencing and whole exome sequencing.
Results: The 2-month-old male patient first presented with bilateral congenital aphakia associated with microphthalmia, corneal opacity, and dysplasia of the anterior segment. At the age of 2-years, his visual acuity in the left eye was 20/1000 at 30 cm, he was able to discriminate red, blue, and yellow light stimuli, and a b-wave was recorded by scotopic combined rod-cone electroretinograms. The right eye became blind during the follow-up period. No mutation in the FOXE3 gene was detected.
Conclusion: Although congenital aphakia is known to be caused by mutations in the FOXE3 gene, the results of lack of coding mutation in this patient suggests a possible genetic heterogeneity of the disease.
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http://dx.doi.org/10.1080/13816810.2017.1350722 | DOI Listing |
Ophthalmology
December 2024
Department of Ophthalmology, Stanford University, Palo Alto, CA.
Objective: Achieving near normal vision following unilateral congenital cataract surgery is possible but requires early surgery, optical correction and consistent patching. Patching is often challenging for children and their caregivers. The goal of these analyses is to examine the association between reported consistency in patching during the first year after surgery and visual acuity.
View Article and Find Full Text PDFOphthalmology
November 2024
Department of Ophthalmology, Stanford University, Palo Alto, CA.
Objective: The goal of these analyses is to provide evidence that can help parents and health care providers determine whether or not to continue occlusion therapy once a reliable measure of optotype acuity can be obtained in children who are born with a unilateral congenital cataract.
Design: Data from the Infant Aphakia Treatment Study (IATS) are used in a cohort design.
Participants: 105 children who participated in the IATS and did not have a vision-threatening adverse event.
J Vitreoretin Dis
April 2024
Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, India.
To present the successful application of fibrin glue as a surgical adjunct in the management of complex rhegmatogenous retinal detachment (RRD). In this retrospective case series, fibrin glue was used as a surgical adjunct in 5 cases of complex RRD. In each case, standard pars plana vitrectomy and laser retinopexy were performed by the same surgeon.
View Article and Find Full Text PDFIndian J Ophthalmol
November 2024
Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Purpose: To investigate predictors for myopic shift after pediatric cataract surgery after at least 3 years follow-up.
Study Design: Cross-sectional and retrospective study.
Methods: This study included patients treated for congenital or infantile cataract operated up to 5 years of age between 2010 and 2017.
Eur J Obstet Gynecol Reprod Biol
October 2024
Department of Ultrasound, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen 518028, China. Electronic address:
Background: Complete cryptophthalmos, congenital aphakia, and corneal vascularization are relatively uncommon congenital eye malformations during the fetal period. Herein, we report a case of a fetus with complete cryptophthalmos, congenital aphakia, and corneal vascularization in both eyes and review previous prenatal reports of related cases.
Case Presentation: The patient was a 27-year-old pregnant woman, gravida 2, para 1, who was referred to our hospital for consultation at 23 weeks of gestation due to a diagnosis of fetal right renal agenesis at an external hospital.
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