Congenital cataract

BACKGROUND: Congenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye's lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the V-MAF avian musculoaponeurotic-fibrosarcoma oncogene homolog (MAF) gene can result in Ayme-Gripp syndrome and solitary cataract. Notably, MAF mutations have been infrequently reported in recent years. METHODS: In this investigation, we recruited a Chinese family with non-syndromic cataracts...

CLINICAL RELEVANCE: It is particularly important to perform reasonable and effective optical correction to enable visual development after primary lens removal surgery for congenital cataracts. Aphakic infants need a suitable addition power of prescription (ADD) to help them focus on close visual objects. BACKGROUND: It is challenging to obtain appropriate ADD power for infants due to poor cooperation and lack of subjective feedback. We aimed to determine the appropriate ADD for aphakic infants using a recently developed smart wearable device called Clouclip...

PURPOSE: To investigate the morphological types and delineate the clinical and surgical variables associated with VAO in children undergoing pediatric cataract surgery. METHODS: We included 33 eyes of 28 children who developed clinically significant visual axis opacification (VAO) after congenital or developmental cataract surgery. All eyes underwent a comprehensive examination under anesthesia followed by a membranectomy to clear the visual axis. We classified VAO into three subgroups: fibrotic, proliferative, and combined morphologies...

Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused by heterozygous mutations in the paired box 6 gene (PAX6), which codes for a transcription factor that regulates eye development. Four patients from our hospital who presented with ocular phenotypes were recruited for research sequencing with informed consent...

Congenital and infantile (CI) cataract is one of the most important and preventable cause of blindness in children, but the incidence has not been studied in Korea. We collected data from the national claims database of the National Health Insurance Service of Korea from 2002 through 2019. We identified children who underwent cataract surgery within the age of 5 years, and cumulative incidence rates were calculated for each of the three age criteria. 989 patients out of 4,221,459 births underwent surgery with CI cataract during the period...

OBJECTIVES: To investigate the characteristic cytokine profile of the aqueous humor in eyes with congenital cataract and pre-existing posterior capsule dysfunction (PCD). METHODS: In this cross-sectional study, the enrolled eyes with congenital cataract and PCD were included in the PCD group, while those with an intact posterior capsule were included in the control group. Demographic data and biometric parameters were recorded. The levels of 17 inflammatory factors in the aqueous humor collected from the enrolled eyes were detected using Luminex xMAP technology, and intergroup differences in the collected data were analyzed...

Artificial intelligence (AI) has become a revolutionary influence in the field of ophthalmology, providing unparalleled capabilities in data analysis and pattern recognition. This narrative review delves into the crucial role that AI plays, particularly in the context of anterior segment diseases with a genetic basis. Corneal dystrophies (CDs) exhibit significant genetic diversity, manifested by irregular substance deposition in the cornea. AI-driven diagnostic tools exhibit promising accuracy in the identification and classification of corneal diseases...

This case study highlights the advances in fetal ultrasonography, illustrating its role in early detection and management of congenital cataracts. We present the case of a male infant with a family history of congenital cataracts, where an in-utero ultrasound examination at 25 weeks of gestation revealed potential cataracts. His mother and brother underwent cataract surgery. After birth examination revealed that the infant was diagnosed with bilateral congenital cataracts at two days. Bilateral lens aspiration and anterior vitrectomy without intraocular lens insertion were done...

Intraocular lens (IOL) implantation is currently the most effective clinical treatment for cataracts. Nevertheless, due to the growth of the eye axis in patients with congenital cataracts during the process of growth and development, the progressive incapacity of an IOL with a fixed focus does not meet the demands of practical usage, leading to the occurrence of ametropia. This work describes an innovative class of an IOL bulk material that offers good biosafety and light-controlled refractive index adjustment...

The PEX11β gene contains four exons and encodes peroxisomal membrane protein 11β, which is involved in peroxisome proliferation and division. Pathogenic variants in this gene result in a rare genetic disorder with autosomal recessive inheritance called peroxisome biogenesis disorder 14B (MIM: 614920). Here, we report two affected siblings with a novel variant (NM_003846: c.11G > A, p. Trp4Ter) in the PEX11β gene that was identified by whole exome sequencing and confirmed by Sanger sequencing...

Rubella virus is a leading cause of vaccine-preventable birth defects. Infection during pregnancy can result in miscarriage, fetal death, stillbirth, or a constellation of birth defects, including cataracts, deafness, heart defects, and developmental delay, known as congenital rubella syndrome (CRS). A single dose of rubella-containing vaccine can provide lifelong protection against rubella. The Global Vaccine Action Plan 2011-2020 included a target to achieve elimination of rubella in at least five of the six World Health Organization (WHO) regions by 2020, and rubella elimination is a critical goal of the Immunization Agenda 2030...

Persistent unilateral or bilateral visual deprivation at any age, particularly in children, can compromise sensory fusion and result in a type of strabismus known as sensory or secondary strabismus. There are several pathologies that can induce visual impairment, such as severe anisometropia, congenital unilateral cataract, corneal opacity, retinal diseases, and optic nerve anomalies. Sensory strabismus may be horizontal or vertical or a combination of them; however, most reports indicate the development of horizontal deviation as sensory strabismus...

Spatial cognition and mobility are typically impaired in congenitally blind individuals, as vision usually calibrates space perception by providing the most accurate distal spatial cues. We have previously shown that sight restoration from congenital bilateral cataracts guides the development of more accurate space perception, even when cataract removal occurs years after birth. However, late cataract-treated individuals do not usually reach the performance levels of the typically sighted population. Here, we developed a brief multisensory training that associated audiovisual feedback with body movements...

PURPOSE: To evaluate the ESCRS online calculator for intraocular lens (IOL) calculation in children undergoing lens extraction and primary IOL implantation. SETTING: Department of Ophthalmology, Goethe University Frankfurt, Germany. DESIGN: Retrospective, consecutive case series. METHODS: We included eyes that received phacoemulsification and IOL implantation (Acrysof SN60AT, Alcon, Fort Worth, Tx, USA) due to congenital or juvenile cataract...

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No abstract text is available yet for this article.

PURPOSE: This study aims to present two different types of giant bleb formation following Ahmed Glaucoma Valve (AGV) implantation: an anterior enlarged giant bleb and a posterior enlarged giant bleb. OBSERVATIONS: In Case 1, a 70-year-old Japanese male underwent AGV implantation for neovascular glaucoma in his right eye (OD). Preoperatively, the patient's intraocular pressure (IOP) and best corrected visual acuity (BCVA) were 23 mmHg and 0.6, respectively, OD, while using 3 antiglaucoma topical medications...

Genetic disorders manifest clinically in a variety of phenotypes. A patient with cataract, hypoacusis, hand and foot deformities, and diabetes was not reported. The patient is a 74-year-old male with a history of congenital foot and hand deformities manifesting as brachydactyly of fingers 4 and 5 on the right side and brachydactyly and syndactyly of the fingers 1-5 on the left side. Foot deformities required orthopedic surgery from an early age. He later developed cataract that required surgery, hypoacusis with tinnitus on the left side, and diabetes...

Congenital cataract is a major cause of childhood blindness worldwide, with crystallin mutations accounting for over 40 % of gene-mutation-related cases. Our research focused on a novel R114C mutation in a Chinese family, resulting in bilateral coronary cataract with blue punctate opacity. Spectroscopic experiments revealed that βA3-R114C significantly altered the senior structure, exhibiting aggregation, and reduced solubility at physiological temperature. The mutant also displayed decreased resistance and stability under environmental stresses such as UV irradiation, oxidative stress, and heat...

Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial porencephaly, seizures, intracranial haemorrhages, cataracts, nephropathies and more. There have been up to 137 identified patients based on a review of the literature. In this case, we describe a male infant that presents with hemiparesis, developmental delay and gait abnormalities at his well-child check. Referral to neurology and a subsequent MRI demonstrated porencephaly and ocular lens abnormalities...