Purpose: To assess the long-term visual acuity (VA) outcome after congenital cataract surgery at Imam Hossein Medical Center (Tertiary Referral Center) (2004-2014).
Methods: In this descriptive study, records of 120 patients with a history of congenital cataract surgery were studied. Those with traumatic, metabolic cataract, aged <5 years at the last visit who were not able to respond VA testing accurately and follow-up < 6 months were excluded. Cases with incomplete files were recalled and reexamined. Finally, the records of 42 patients (71 eyes) were included.
Results: In this study, 20 males and 22 females with a mean age of 11.80 ± 6 years at their last visit were studied. Bilateral and unilateral cataract was seen in 69% and 31% of cases, respectively. Posterior and anterior subcapsular opacity was the most common (53.70%) and rarest (1.90%) type of congenital cataract, respectively. The mean age at the time of operation and surgical interval was 65 ± 66.6 (range: 1-200) and 12.9 ± 23.5 (range: 0-96) months, respectively. The most common method of refractive error correction was pseudophakia plus glasses (56.3%) with the mean best corrected visual acuity (BCVA) of 0.29 ± 0.28 LogMAR., The mean BCVA was 0.7 ± 0.53 LogMAR for aphakic patients correcting by glasses. In our study, amblyopia (56%), glaucoma (23.90%), and posterior capsular opacity (16.40%) were observed during their follow-ups on an average of 76 ± 65 months (median: 60, range: 6-240). Unilateral cataract, aphakia, nystagmus, female gender, and strabismus were risk factors of VA loss.
Conclusion: Based on our results, 56% of cases showed amblyopia. It could be due to late operation (especially in unilateral cases), longer surgical interval between two eyes, and no compliance of amblyopia therapy. Early detection through screening may reduce the rate of amblyopia. Refractive errors, visual acuity, amblyopia, glaucoma, posterior capsular opacity, and compliance of amblyopia therapy should be checked regularly at follow-up visits.
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http://dx.doi.org/10.1016/j.joco.2015.11.001 | DOI Listing |
Vision (Basel)
January 2025
Sztárai Institute, University of Tokaj, 3950 Sárospatak, Hungary.
Retinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP. In these cases, RP includes systemic symptoms impacting other organs, complicating diagnosis and management. This review highlights key systemic syndromes linked with RP, such as Usher, Bardet-Biedl, and Alström syndromes, focusing on genetic mutations, inheritance, and clinical symptoms.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Department of Ophthalmology, Hospital das Clínicas - Empresa Brasileira de Serviços Hospitalares, Federal University of Pernambuco, Recife, Brazil.
Background: Oculodentodigital dysplasia (ODDD) is a rare syndrome that causes a constellation of facial, ophthalmic, dental, and limb abnormalities. Variants in the gap junction alpha-1 () gene have been described in patients with ODDD. Hereby we present the ocular manifestations in a patient with recessive ODDD due to a novel homozygous frameshift variant in .
View Article and Find Full Text PDFInt Ophthalmol
January 2025
Cleveland Clinic Abu Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates.
Purpose: To describe the safety and assess the feasibility of using intracameral cefuroxime sodium (Aprokam®) during congenital cataract surgery as a preventive measure for endophthalmitis.
Design: Monocentric, prospective, observational pilot study.
Setting: San Giuseppe Hospital, University of Milan, Milan, Italy.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFMol 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.
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