June 2020
Volume 61, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2020
CPAMD8 loss-of-function in a family with non-dominant congenital glaucoma and anterior segment dysgenesis.
Author Affiliations & Notes
  • JUAN MANUEL MANUEL BONET FERNANDEZ
    Genetica Molecular (Facultad de Medicina), Universidad de Castilla-La-Mancha, Albacete, España, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • José Daniel Aroca-Aguilar
    Genetica Molecular (Facultad de Medicina), Universidad de Castilla-La-Mancha, Albacete, España, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • María Teresa García-Antón
    Universidad Complutense de Madrid, Madrid, Madrid, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Ana Isabel Ramírez
    Universidad Complutense de Madrid, Madrid, Madrid, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Susana Alexandre-Moreno
    Genetica Molecular (Facultad de Medicina), Universidad de Castilla-La-Mancha, Albacete, España, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Juan José Salazar
    Universidad Complutense de Madrid, Madrid, Madrid, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Jesús José Ferre-Fernández
    Genetica Molecular (Facultad de Medicina), Universidad de Castilla-La-Mancha, Albacete, España, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Raquel Atienzar-Aroca
    Genetica Molecular (Facultad de Medicina), Universidad de Castilla-La-Mancha, Albacete, España, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Carmen Dora Mendéz Hernandéz
    Servicio de Oftalmología, Hospital San Carlos, Madrid, Madrid, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Laura Morales-Fernández
    Servicio de Oftalmología, Hospital San Carlos, Madrid, Madrid, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Jose Maria Martinez de la Casa
    Servicio de Oftalmología, Hospital San Carlos, Madrid, Madrid, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Julian García-Feijo
    Servicio de Oftalmología, Hospital San Carlos, Madrid, Madrid, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Julio Escribano-Martínez
    Genetica Molecular (Facultad de Medicina), Universidad de Castilla-La-Mancha, Albacete, España, Spain
    Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, Spain
  • Footnotes
    Commercial Relationships   JUAN MANUEL BONET FERNANDEZ, None; José Aroca-Aguilar, None; María García-Antón, None; Ana Ramírez, None; Susana Alexandre-Moreno, None; Juan Salazar, None; Jesús Ferre-Fernández, None; Raquel Atienzar-Aroca, None; Carmen Mendéz Hernandéz, None; Laura Morales-Fernández, None; Jose Maria Martinez de la Casa, None; Julian García-Feijo, None; Julio Escribano-Martínez, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 983. doi:
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      JUAN MANUEL MANUEL BONET FERNANDEZ, José Daniel Aroca-Aguilar, María Teresa García-Antón, Ana Isabel Ramírez, Susana Alexandre-Moreno, Juan José Salazar, Jesús José Ferre-Fernández, Raquel Atienzar-Aroca, Carmen Dora Mendéz Hernandéz, Laura Morales-Fernández, Jose Maria Martinez de la Casa, Julian García-Feijo, Julio Escribano-Martínez; CPAMD8 loss-of-function in a family with non-dominant congenital glaucoma and anterior segment dysgenesis.. Invest. Ophthalmol. Vis. Sci. 2020;61(7):983.

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Abstract

Purpose : The main objective of this study was to identify diseases-causing variants in a patient diagnosed with non-dominant congenital glaucoma and ASD.

Methods : Trio whole exome sequencing was performed by next generation sequencing (NGS) with Illumina Hi Seq technology. Filtering with available genomic databases and in silico analyses were used to identify pathogenic variants. All pathogenic variants found were confirmed by Sanger sequencing. CPAMD8 transcript expression was analyzed by quantitative real time PCR. The analysis of the patient's trabeculectomy were performed by light microscopy and electron transmission microscopy.

Results : Trio whole-exome sequencing identified two compound heterozygous variants (p.(Lys845fsTer13) and p.(Arg668Ter)) in CPAMD8, a gene of unknown function and recently associated with ASD. Bioinformatic and quantitative real-time PCR analysis supported a loss-of-function pathogenic mechanism. Histologic examination of the trabeculectomy specimen from this patient revealed an immature anterior chamber angle, with anterior insertion of the ciliary muscle, altered extracellular matrix and apoptosis in the trabecular meshwork.

Conclusions : Our data support that CPAMD8 disruption underlies recessive CG and ASD associated with extracellular matrix disruption and provide new insights on the pathogenesis of this disease.

This is a 2020 ARVO Annual Meeting abstract.

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