The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and Therapeutics by Agnieszka Starzyk, Piotr Charzewski

Subjects: “…congenital cataracts…”
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Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract by U. D. Shrestha, S. Adhikari

“…There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM. …”
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Postoperative Axial Length Prediction Model in Children With Congenital Cataract and Intraocular Lens Implantation by Jialin Xu, Yunhui Yu, Yaqi Wang, Shenrong Zhang, Enze Liu, Wenjing Wang, Chenyuan Zhu, Jin Li

“…Conclusions: This model predicts AL growth in children following congenital cataract surgery and IOL implantation, helping ophthalmologists select appropriate IOL power.…”
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Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients by Doudou Chen, Tao Yang, Siquan Zhu

“…To identify likely pathogenic variants in three families with congenital cataracts via panel-based exome sequencing. Methods. …”
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Deep learning–based assessment of missense variants in the COG4 gene presented with bilateral congenital cataract by Shaohua Zhang, Yang Sun, Yinghong Ji, Li Ning, Binghe Xiao, Maierdanjiang Ainiwaer, Houyi Liu, Yingying Hong

“…The Cog4 p.Y714F variant exhibited greater protein structural similarity to mutated Cog4 found in Saul‒Wilson syndrome (p.G512R) and shared similar clinical phenotype (congenital cataract and psychomotor retardation). PCA of included pathogenic metrics demonstrated p.Y714F occurred at a critical position in Cog4 amino acid sequence with disrupted post-translational phosphorylation.Conclusion Deep learning algorithms, including AF2, AM and ThermoMPNN, can be useful for evaluating variant of uncertain significance (VUS) by structural and pathogenicity prediction. …”
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Management of Aphakia with Visual Axis Opacification after Congenital Cataract Surgery Based on UBM Image Features Analysis by Wensi Chen, Shiping He, Daoman Xiang

“…The purpose of this study was to study the imaging features of ultrasound biomicroscopy (UBM) in the aphakia with visual axis opacification (VAO) after congenital cataract surgery. Methods. From May 2015 to May 2018, aphakia patients with VAO who underwent congenital cataract surgery were examined by high-resolution bag/balloon UBM technique, and the results of UBM imaging were analyzed. …”
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Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts by D. Wong, S. M. Johnson, D. Young, L. Iwamoto, S. Sood, T. P. Slavin

“…Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.…”
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A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family by Yu Zhou, Yaru Zhai, Lulin Huang, Bo Gong, Jie Li, Fang Hao, Zhengzheng Wu, Yi Shi, Yin Yang

“…Congenital cataract is the most common cause of the visual disability and blindness in childhood. …”
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Secondary aphakic glaucoma in children: a 15-year retrospective study by N.N. Sadovnikova, V.V. Brzheskiy, M.A. Zertsalova, A.Yu. Baranov

“…Petersburg, Russian Federation </p> <p> <b>Aim</b>: to assess the incidence of glaucoma in children who underwent congenital cataract surgery, to determine the risk factors for its development. …”
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Fundus Examination of 23,861 Newborns by Digital Imaging in Ningbo by Delin Liu, Jiao Zheng, Yi Lu

“…For treatable diseases, such as ROP, FEVR, congenital cataract, glaucoma, and RB, early identification allows for active treatment or referral to a specialized hospital for further treatment. …”
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Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant by Lubica Dudakova, Pavlina Skalicka, Olga Ulmanová, Martin Hlozanek, Viktor Stranecky, Frantisek Malinka, Andrea L. Vincent, Petra Liskova

“…We have performed ocular examination and review of medical records in two individuals diagnosed with nanophthalmos (proband and her father) and one individual followed for bilateral congenital cataract and microcornea (uncle of the proband). …”
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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis by Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki

“…ABSTRACT Background Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. …”
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Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations by Jennifer Robinson, Manca Tekavčič Pompe, Christina Gerth-Kahlert

“…This is in concordance with the extended literature review of 249 publications, although congenital cataracts were reported to be higher than at our institution. …”
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Ocular Findings in Infants with Microcephaly Caused by Presumed Congenital Infection by Zika Virus in Sergipe by Marco Valadares, Anne Carolyne Lelis Oliveira Pedroso, Alessandro Santana, Angela Maria da Silva, Isabela Soares Costa, Maria Luiza Doria Almeida, Roque Pacheco de Almeida

“…Other ocular alterations were seen in 15 (24.2%) patients, including pathological strabismus in 11 (17.7%) patients, congenital cataracts in 2 (3.2%) patients, and nystagmus in 2 (3.2%) patients. …”
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