Literature DB >> 6881141

Congenital glaucoma due to dominant goniodysgenesis. A new concept of the heredity of glaucoma.

T Jerndal.   

Abstract

Three typical pedigrees with hereditary glaucoma are presented, in which dominant goniodysgenesis is shown to be the actual genetic trait. Because of a marked variation in the expressivity of dysgenesis, the symptoms of the genetic malformation (elevated intraocular pressure and subsequent glaucoma) may appear early or late in life. Therefore, there is no justification in letting the patient's age at the onset of the symptoms decide the classification or the mode of inheritance of the glaucoma (infantile, juvenile, simple), when the common etiologic factor is a dominant dysgenic trait. Consequently, the term "congenital glaucoma" is inadequate and even misleading for glaucoma caused by an inborn malformation, but which may be manifested only after several years or even decades. Instead a new term "dysgenic glaucoma" is suggested as the logical term that also indicates the etiology.

Entities:  

Mesh:

Year:  1983        PMID: 6881141      PMCID: PMC1685742     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  12 in total

1.  Pathogenesis of congenital glaucoma: gonioscopic and anatomic observation of the angle of the anterior chamber in the normal eye and in congenital glaucoma.

Authors:  O BARKAN
Journal:  Am J Ophthalmol       Date:  1955-07       Impact factor: 5.258

2.  [Simple chronic glaucoma with dominant heredity].

Authors:  J FRANCOIS; J P DEWEER; J VAN DEN BERGHE
Journal:  Ann Ocul (Paris)       Date:  1951-05

3.  Familial glaucoma. In nine generations of a South Hampshire family.

Authors:  J P Martin; E C Zorab
Journal:  Br J Ophthalmol       Date:  1974-05       Impact factor: 4.638

4.  Twin study on ocular pressure following topically applied dexamethasone. II. Inheritance of variation in pressure response.

Authors:  J T Schwartz; F H Reuling; M Feinleib; R J Garrison; D J Collie
Journal:  Arch Ophthalmol       Date:  1973-10

5.  New gonioscopic signs in congenital glaucoma of late onset.

Authors:  R Sampaolesi
Journal:  Bibl Ophthalmol       Date:  1968

6.  Scanning electron microscopic studies on the development of the iridocorneal angle in human eyes.

Authors:  H A Hansson; T Jerndal
Journal:  Invest Ophthalmol       Date:  1971-04

7.  Familial hypoplasia of the iris stroma associated with glaucoma.

Authors:  J R Weatherill; C T Hart
Journal:  Br J Ophthalmol       Date:  1969-07       Impact factor: 4.638

8.  Segregation analysis of congenital glaucoma: approach by two differential models.

Authors:  F Demenais; R C Elston; C Bonaiti; M L Briard; E B Kaplan; K K Namboodiri
Journal:  Am J Hum Genet       Date:  1981-03       Impact factor: 11.025

9.  Corticosteroid response in dominant congenital glaucoma.

Authors:  T Jerndal; M Munkby
Journal:  Acta Ophthalmol (Copenh)       Date:  1978-06

10.  [Geographical, chronological & genealogical studies of glaucoma in infants & children].

Authors:  E B STREIFF; J F CUENDET; R COHEN
Journal:  Ophthalmologica       Date:  1957 Apr-May       Impact factor: 3.250

View more
  6 in total

1.  Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity.

Authors:  C Graff; S F Urbak; T Jerndal; C Wadelius
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

2.  Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness.

Authors:  S N Martin; J Sutherland; A V Levin; R Klose; M Priston; E Héon
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

3.  Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

Authors:  Xiaoming Chen; Naihong Yan; Hongmin Yun; Jingjing Sun; Man Yu; Jiumo Zhou; Guiqun Cao; Hongbo Yin; Mao Li; Xuyang Liu
Journal:  Mol Vis       Date:  2009-08-07       Impact factor: 2.367

4.  Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene.

Authors:  Richard McKeone; Helena Vieira; Kevin Gregory-Evans; Cheryl Y Gregory-Evans; Paul Denny
Journal:  PLoS One       Date:  2011-10-13       Impact factor: 3.240

5.  Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

Authors:  Cristina Medina-Trillo; Francisco Sánchez-Sánchez; José-Daniel Aroca-Aguilar; Jesús-José Ferre-Fernández; Laura Morales; Carmen-Dora Méndez-Hernández; Fiona Blanco-Kelly; Carmen Ayuso; Julián García-Feijoo; Julio Escribano
Journal:  PLoS One       Date:  2015-03-18       Impact factor: 3.240

6.  Anisohypermetropia as a sign of unilateral glaucoma in the pediatric population.

Authors:  Deborah Kl Tan; Gillian H Teh; Ching Lin Ho; Boon Long Quah
Journal:  Int Med Case Rep J       Date:  2017-06-15
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.