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Primary Congenital Glaucoma Genetics: The Experience in Brazil

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Advances in Vision Research, Volume III

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

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Abstract

Primary congenital glaucoma (PCG) is the most prevalent form among childhood glaucomas, with an incidence varying between 1:1250 and 1:30,000. The majority of PCG cases are sporadic and families have been reported with an autosomal recessive inheritance pattern and variable penetrance. Genetic heterogeneity has been observed in PCG. Five loci have been identified (GLC3A–GLC3E) and, among these loci, variants in three genes have been associated with PCG.

In Brazil, to date the genetic profile of PCG is restricted to the evaluation of the CYP1B1 gene. Brazil is a country characterized by a highly admixed population and low frequency of consanguineous marriages. Most studies have been conducted in the Southeast and report a frequency of disease-associated variants ranging from 23.5 to 50.0%, with most variants present in compound heterozygosity and some variants still unique to this population. An association between variants in the CYP1B1 gene and poor prognosis has also been observed, reinforcing the importance of investigating this gene in Brazilian PCG patients.

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Authors and Affiliations

  1. Center for Molecular Biology and Genetic Engineering, University of Campinas, Campinas, São Paulo, Brazil

    Mônica Barbosa de Melo

  2. Department of Ophthalmology and Otorhinolaryngology, School of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil

    José Paulo Cabral de Vasconcellos & Vital Paulino Costa

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  1. Mônica Barbosa de Melo
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  2. José Paulo Cabral de Vasconcellos
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  3. Vital Paulino Costa
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Editors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Gyan Prakash

  2. National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

    Takeshi Iwata

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Barbosa de Melo, M., Cabral de Vasconcellos, J.P., Paulino Costa, V. (2021). Primary Congenital Glaucoma Genetics: The Experience in Brazil. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume III. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-15-9184-6_17

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