The genetic and molecular basis of congenital cataract

Santana, Alex Fabiano Bertollo; Waiswo, Mauro

doi:10.1590/s0004-27492011000200016

Cited by 88 publications

(76 citation statements)

References 33 publications

(56 reference statements)

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“…En estos países la CC constituye la etiología más frecuente de ceguera infantil llegando a ser responsables entre el 10 y el 39% de ésta (1,2).…”

Section: Discussionunclassified

“…Se estima que existen 200.000 niños ciegos por cataratas en el mundo. La prevalencia de cataratas bilaterales a la hora del nacimiento estimada en países desarrollados es de 1-3/10.000 nacimientos, siendo mayor en países en desarrollo con tasas de 15/10.000 nacimientos (1). Según su etiología la catarata congénita puede ser una de las causas de ceguera infantil tratable.…”

Section: Introductionunclassified

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Diagnóstico prenatal de catarata congénita

Allué

Cornudella

Grijalba

et al. 2013

Rev. chil. obstet. ginecol.

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RESUMENLa catarata congénita (CC) es una patología poco frecuente en nuestro medio frente a los países en desarrollo donde constituye la etiología más frecuente de ceguera infantil. La prevención de deterioro visual debido a esta patología es parte del programa de la OMS cuyo objetivo es la eliminación de ceguera evitable en el año 2020. Presentamos el caso de una gestante en la que el diagnóstico prenatal se realizó en la ecografía morfológica. Si somos capaces de realizar este diagnóstico podremos evitar el deterioro precoz de la función visual del recién nacido. Así, la identificación de ambos cristalinos debe de formar parte de las estructuras a reconocer de forma obligada en la ecografía morfológica. PALABRAS CLAVE: Catarata congénita, diagnóstico prenatal, ecografía SUMMARYCongenital cataract is a rare disease in our environment opposite developing countries where it is the most frequent etiology of childhood blindness. Prevention of visual impairment due to this pathology is a part of the WHO programme whose objective is the elimination of avoidable blindness by the year 2020. We present the case of a pregnant woman that prenatal diagnosis was made on mid-trimester ultrasound. If we are able to perform this diagnosis, we will be able to prevent early deterioration of visual function of the newborn. Thus, identification of both crystalline should be part of the structures to recognize in the mid-trimester ultrasound. KEY WORDS: Congenital cataract, prenatal diagnosis, ultrasound INTRODUCCIÓNLa catarata congénita (CC) representa un desafío clínico, en el que el diagnóstico prenatal juega un papel importante.La CC se define como la opacidad del cristalino presente en el recién nacido o en los tres primeros meses de vida. Se estima que existen 200.000 niños ciegos por cataratas en el mundo. La prevalencia de cataratas bilaterales a la hora del nacimiento estimada en países desarrollados es de 1-3/10.000 nacimientos, siendo mayor en países en desarrollo con tasas de 15/10.000 nacimientos (1). Según su etiología la catarata congénita puede ser una de las causas de ceguera infantil tratable.El objetivo de esta comunicación es la revisión de esta patología, poco frecuente, a partir de un caso diagnosticado en nuestro servicio.

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“…En estos países la CC constituye la etiología más frecuente de ceguera infantil llegando a ser responsables entre el 10 y el 39% de ésta (1,2).…”

Section: Discussionunclassified

Section: Introductionunclassified

Diagnóstico prenatal de catarata congénita

Allué

Cornudella

Grijalba

et al. 2013

Rev. chil. obstet. ginecol.

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“…Majority of the mutations reported in genes, disrupt the tertiary structure culminating in aggregation and precipitation of crystallin. Apart from structural gene mutations, point mutations in the cytoskeletal components [Major intrinsic protein (MIP)], aquaporin0, membrane proteins, gap junctional proteins (Connexin 46 & 50), other heat shock components ends up in loss of lenticular homeostasis [ 9 ], and membrane disintegrations in fi ber cells [ 10 ] can also cause/increase the risk of congenital and age-related cataract.…”

Section: Etiology Of Cataractogenesismentioning

confidence: 99%

Etiology and Prevention of Cataract

Kumari

Ramkumar

Thankappan

et al. 2014

Oxidative Stress in Applied Basic Research and Clinical Practice

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“…It is the second most common cause of blindness and amblyopia. The incidence of non-syndromic congenital cataract has been estimated to be 1-6 of every 10,000 newborns (Santana and Waiswo, 2011), for which genetic types account for approximately one-third (Lambert and Drack, 1996). Genetically, the disease features great heterogeneity, with at least 42 loci mapped to date (Hejtmancik and Smaoui, 2003).…”

Section: Introductionmentioning

confidence: 99%

A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract

et al. 2015

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ABSTRACT. Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and ophthalmologic examinations to rule out any concomitant disorders. Blood samples were collected and genomic Novel CRYAA mutation underlying congenital cataract DNA was extracted. Potential mutations in the candidate gene alpha A crystallin (CRYAA) were screened. Prenatal diagnosis was then provided for a fetus of the affected proband by chorionic villus sampling. In all patients, DNA sequencing of the CRYAA gene revealed a novel 3-bp deletion mutation in exon 3 (c.246_248delCGC), which led to deletion of codon 117 encoding arginine (p.117delR) in the peptide chain. The same mutation was not found among unaffected and healthy individuals. Bioinformatic analysis revealed that although the c.246_248delCGC is an 'in-frame' mutation, removal of arginine resulted in a significant change in the protein structure. The fetus did not possess this mutation and was confirmed to be healthy at 1-year follow-up. A novel diseasecausing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified in a Chinese family with autosomal-type perinuclear congenital cataracts. This is also the first report of prenatal diagnosis of this type of congenital cataract.

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The genetic and molecular basis of congenital cataract

Cited by 88 publications

References 33 publications

Diagnóstico prenatal de catarata congénita

Diagnóstico prenatal de catarata congénita

Etiology and Prevention of Cataract

A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract

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