congenital hereditary endothelial dystrophy

Corneal Dystrophy, Congenital Endothelial 1

Clinical Characteristics

Ocular Features

Early onset limbus-to-limbus corneal clouding is the outstanding feature.  Some asymmetry is often present.  Vision is minimally impaired if at all in many children but slow progression occurs and adults often become visually impaired.  Nystagmus does not develop.  Photophobia and tearing are common.  The corneal appearance can lead to the erroneous diagnosis of congenital glaucoma.  However, some infants actually do have congenital glaucoma as well leading some to suggest this may be a disorder of anterior chamber dysgenesis.  The edematous cornea may be of 2-3 times normal thickness.  It may appear generally hazy and sometimes has a diffuse ground glass appearance.  

The posterior surface often appears mottled and has been described as having a peau d'orange appearance.  The endothelium is attenuated or even absent histologically and abnormal, disorganized collagen fibrils have been found in a thickened Descemet layer by electron microscopy.  The remaining endothelial cells are often vacuolated and heaped in double layers, with some containing melanin granules.  Some atrophy and edema of the epithelium with partial loss of Bowman’s can be seen histologically.

Systemic Features

No systemic abnormalities are found in this disorder.

Genetics

This is an autosomal dominant disorder that maps to a locus on chromosome 20 (20p11.2-q11.2).   The molecular defect remains unknown.  However, it is of interest that the posterior polymorphous corneal dystrophy 1 (PPCD1, 122000) mutation has been mapped to the same pericentric region, and it has been suggested that the two conditions may be allelic.  

This disorder should not be confused with congenital endothelial dystrophy type 2, CHED2 (217700) which is autosomal recessive, has an earlier presentation, and maps to a different region of chromosome 20.  Harboyan syndrome (217400) has similar corneal features but maps to a different location on chromosome 20 and is associated with sensorineural deafness.

Treatment Options

Penetrating keratoplasty carries a good visual prognosis, even when done late in life.

References

Maumenee AE. Congenital hereditary corneal dystrophy. Am J Ophthalmol. 1960 Dec;50:1114-24.

PubMed ID: 
13768390

Ramamurthy B, Sachdeva V, Mandal AK, Vemuganti GK, Garg P, Sangwan VS. Coexistent congenital hereditary endothelial dystrophy and congenital glaucoma. Cornea. 2007 Jul;26(6):647-9.

PubMed ID: 
17592310

Kirkness CM, McCartney A, Rice NS, Garner A, Steele AD. Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology. Br J Ophthalmol. 1987 Feb;71(2):130-44.

PubMed ID: 
3548808

Mullaney PB, Risco JM, Teichmann K, Millar L. Congenital hereditary endothelial dystrophy associated with glaucoma. Ophthalmology. 1995 Feb;102(2):186-92.

PubMed ID: 
7862405