Literature DB >> 3548808

Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology.

C M Kirkness, A McCartney, N S Rice, A Garner, A D Steele.   

Abstract

The clinical and histological features of congenital hereditary corneal oedema in 23 patients are presented. The series includes cases of both recessive and dominant inheritance. Although the condition is present at birth or in early childhood, visual development appears to be little impaired, if at all. Penetrating keratoplasty carries a relatively good surgical prognosis and can produce a substantial visual gain even when carried out late in life.

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Year:  1987        PMID: 3548808      PMCID: PMC1041104          DOI: 10.1136/bjo.71.2.130

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN: 0007-1161            Impact factor:   4.638


  23 in total

1.  Further studies of congenital hereditary endothelial dystrophy of the cornea.

Authors:  K R Kenyon; A E Maumenee
Journal:  Am J Ophthalmol       Date:  1973-10       Impact factor: 5.258

2.  Electron microscopic study of hereditary corneal edema.

Authors:  A Kanai; S Waltman; F M Polack; H E Kaufman
Journal:  Invest Ophthalmol       Date:  1971-02

3.  Histology of congenital hereditary corneal dystrophy.

Authors:  B Antine
Journal:  Am J Ophthalmol       Date:  1970-06       Impact factor: 5.258

4.  The pathogenesis of congenital hereditary endothelial dystrophy of the cornea.

Authors:  K R Kenyon; B Antine
Journal:  Am J Ophthalmol       Date:  1971-10       Impact factor: 5.258

5.  Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy.

Authors:  G F Judisch; I H Maumenee
Journal:  Am J Ophthalmol       Date:  1978-05       Impact factor: 5.258

6.  Prenatal and postnatal growth of the human Descemet's membrane.

Authors:  C Murphy; J Alvarado; R Juster
Journal:  Invest Ophthalmol Vis Sci       Date:  1984-12       Impact factor: 4.799

7.  Replacement of the corneal endothelium by melanocytes.

Authors:  J R Wolter
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1981

8.  The ultrastructure of Descemet's membrane. I. Changes with age in normal corneas.

Authors:  D H Johnson; W M Bourne; R J Campbell
Journal:  Arch Ophthalmol       Date:  1982-12

9.  Corneal dystrophies. II. Endothelial dystrophies.

Authors:  G O Waring; M M Rodrigues; P R Laibson
Journal:  Surv Ophthalmol       Date:  1978 Nov-Dec       Impact factor: 6.048

10.  Keratoplasty in infants and children.

Authors:  G O Waring; P R Laibson
Journal:  Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol       Date:  1977 Mar-Apr
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  22 in total

1.  Successful Descemet's stripping automated endothelial keratoplasty for congenital hereditary endothelial dystrophy in a pediatric patient.

Authors:  Jeffrey M Goshe; Jennifer Y Li; Mark A Terry
Journal:  Int Ophthalmol       Date:  2012-01-25       Impact factor: 2.031

2.  Depletion of SLC4A11 causes cell death by apoptosis in an immortalized human corneal endothelial cell line.

Authors:  Jun Liu; Li-Fong Seet; Li Wei Koh; Anandalakshmi Venkatraman; Divya Venkataraman; Rajiv R Mohan; Jeppe Praetorius; Joseph A Bonanno; Tin Aung; Eranga N Vithana
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-06-05       Impact factor: 4.799

3.  Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Authors:  Julie Desir; Graciela Moya; Orit Reish; Nicole Van Regemorter; Hilde Deconinck; Karen L David; Françoise M Meire; Marc J Abramowicz
Journal:  J Med Genet       Date:  2007-01-12       Impact factor: 6.318

4.  Ophthalmic genetics: a genealogical guide to sources in England and Wales.

Authors:  M Jay
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

5.  Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct.

Authors:  M Callaghan; C K Hand; S M Kennedy; J S FitzSimon; L M Collum; N A Parfrey
Journal:  Br J Ophthalmol       Date:  1999-01       Impact factor: 4.638

6.  Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.

Authors:  Xiaodong Jiao; Afia Sultana; Prashant Garg; Balasubramanya Ramamurthy; Geeta K Vemuganti; Nibaran Gangopadhyay; J Fielding Hejtmancik; Chitra Kannabiran
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

7.  Congenital hereditary endothelial dystrophy associated with nail hypoplasia.

Authors:  R Stirling; J Pitts; N R Galloway; K Robson; R Newbury-Ecob
Journal:  Br J Ophthalmol       Date:  1994-01       Impact factor: 4.638

8.  Immuno-electron labelling of matrix components in congenital hereditary endothelial dystrophy.

Authors:  W Sekundo; G E Marshall; W R Lee; C M Kirkness
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-06       Impact factor: 3.117

Review 9.  Genetics of corneal endothelial dystrophies.

Authors:  Chitra Kannabiran
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166

10.  Amyloid corneal deposition in corneal buttons of congenital hereditary endothelial dystrophy (CHED) - A clinical and histopathological case series.

Authors:  Abdulmajid Al-Shehah; Ali Al-Rajhi; Hind Alkatan
Journal:  Saudi J Ophthalmol       Date:  2010-10-06
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