title: The Genetics and the Genomics of Primary Congenital Glaucoma.
abstract: The sight is one of the five senses allowing an autonomous and high-quality life, so that alterations of any ocular component may result in several clinical phenotypes (from conjunctivitis to severe vision loss and irreversible blindness). Most parts of clinical phenotypes have been significantly associated with mutations in genes regulating the normal formation and maturation of the anterior segments of the eye. Among the eye anterior segment disorders, special attention is given to Glaucoma as it represents one of the major causes of bilateral blindness in the world, with an onset due to Mendelian or multifactorial genetic-causative traits. This review will point out the attention on the Primary Congenital Glaucoma (PCG), which is usually transmitted according to an autosomal-recessive inheritance pattern. Taking into consideration the genetic component of the PCG, it is possible to observe a strong heterogeneity concerning the disease-associated loci (GLC3), penetrance defects, and expressivity of the disease. Given the strong PGC heterogeneity, pre- and posttest genetic counseling plays an essential role in the achievement of an appropriate management of PCG, in terms of medical, social, and psychological impact of the disease.
authors.affiliation: Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy ; Emotest Laboratory, 80078 Pozzuoli, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Cascella
authors.affiliation: Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Strafella
authors.affiliation: Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, 00142 Rome, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Germani
authors.affiliation: Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.affiliation: UOSD Retinal Pathology PTV Foundation "Policlinico Tor Vergata", 00133 Rome, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Ricci
authors.affiliation: Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, 00142 Rome, Italy ; Neuromed IRCCS, 86077 Pozzilli, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Zampatti
authors.affiliation: Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy ; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, 00142 Rome, Italy.
authors.forename: Emiliano
authors.initials: E
authors.lastname: Giardina
mesh_terms: D000818:Animals; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D056426:Genetic Loci; D023281:Genomics / Q000379:methods*; D005901:Glaucoma / Q000151:congenital / Q000378:metabolism / Q000473:pathology; D006801:Humans