Purpose: The aim of this study was to determine the prevalence of late-onset glaucoma after surgery for congenital cataract in a cohort with long-term follow-up and to evaluate visual development following the diagnosis of postoperative glaucoma in comparison with no glaucoma development.
Methods: All children born between 1980 and 1997 in the western counties of Sweden who had undergone congenital cataract surgery were included (patients n = 77, eyes n = 122). Cataract was considered congenital if there was no proof of clear lens at birth. Medical records were reviewed with regard to onset of glaucoma, age at surgery, surgical technique, coexisting eye anomalies and changes in visual acuity. Glaucoma was considered late onset if occurring after 1 year following surgery.
Results: Total glaucoma prevalence was 14.8%, including late (10.7%) and early onset (4.1%), with a mean follow-up of 23.2 ± 6.6 years. Microphthalmos was a significant risk factor for developing glaucoma (RR 7.75, p < 0.001). Bilaterally treated eyes had a mean visual acuity of 0.43 ± 0.33 (decimal value) at the last follow-up. With glaucoma, mean visual acuity was 0.19 ± 0.17 (decimal value). Treated eyes of patients with unilateral cataract surgery had a lower visual acuity.
Conclusions: Life-long follow-up of all patients who have undergone surgery for congenital cataract in childhood is recommended. Annual check-ups of adults, including measurements of IOP and visual acuity, are recommended for patients with microphthalmos and/or who had surgery <3 months of age.
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http://dx.doi.org/10.1111/aos.15241 | DOI Listing |
Mol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
Ophthalmol Ther
January 2025
Pediatric Ophthalmology and Strabismus Division, King Khaled Eye Specialist Hospital, Al Urubah Branche Rd., West Building 2nd Floor, 11462, Riyadh, Saudi Arabia.
Introduction: Persistent fetal vasculature (PFV) is a congenital anomaly associated with significant surgical challenges, including a high risk of postoperative retinal detachment (RD). This study aimed to evaluate the impact of surgical approach and axial length (AL) on RD risk and visual outcomes in pediatric PFV management.
Methods: A retrospective cohort study was conducted involving 76 eyes of 74 patients who underwent cataract surgery for PFV between 2014 and 2022.
Med J Malaysia
January 2025
Universiti Sains Malaysia, School of Medical Sciences, Department of Ophthalmology and Visual Science, Health Campus, Kubang Kerian, Kelantan, Malaysia.
Introduction: Cataract is a leading cause of visual impairment globally and in Malaysia, with surgery being the definitive treatment. While intracapsular cataract extraction (ICCE) is now less commonly performed due to advancements in surgical techniques, it remains essential in specific cases, such as those with weak zonular support. This study aims to evaluate the incidence, clinical profiles, and visual outcomes of patients who underwent ICCE, with or without intraocular lens (IOL) implantation, at Hospital Melaka, Malaysia, over the past decade.
View Article and Find Full Text PDFBMJ Open Ophthalmol
January 2025
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China
Objective: We compared the protein structure and pathogenicity of clinically relevant variants of the gene with AlphaFold2 (AF2), Alpha Missense (AM), and ThermoMPNN for the first time.
Methods And Analysis: The sequences of clinically relevant Cog4 missense variants (one novel identified p.Y714F and three pre-existing p.
QJM
January 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 510010, China.
Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.
Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.
Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.
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