Corneal Dystrophy, Posterior Amorphous

Clinical Characteristics
Ocular Features: 

The iris abnormalities consisting of iridocorneal adhesions to Schwalbe's line and pupillary abnormalities suggest that PACD is a congenital disorder, perhaps a form of anterior chamber dysgenesis.  The corneal stroma and Descemet membrane contain sheet-like opacities with clear intervening areas.  These opacities are concentrated in the posterior stroma and are sometimes seen from limbus to limbus whereas in other cases they occur mostly peripherally.  The cornea may be thinner than normal and somewhat flattened.  There is little or no progression of the corneal opacification and vision varies widely.  Glaucoma has not been reported.

Histological and EM studies have revealed some fracturing and disorganization of the posterior stromal lamellae and focal attenuation of the endothelium.

Systemic Features: 

There is no associated systemic disease.


A limited number of families with this disorder have been reported and the pattern in each is  generally consistent with autosomal dominant inheritance.  This may be a deletion syndrome based on the finding in a 1 year old African male with a heterozygous de novo deletion at 12q21.33-q22 containing 11 genes.  Anong the missing genes are those for the 4 small leucine-rich proteoglycans associated with this form of corneal dystrophy.  The parents did not have the deletion though.

Treatment Options: 

Treatment is generally not required but penetrating keratoplasty can benefit those whose vision is significantly impaired.

Article Title: 


Odent S, Casteels I, Cassiman C, Dieltiens M, Hua MT, Devriendt K. Posterior amorphous corneal dystrophy caused by a de novo deletion. Ophthalmic Genet. 2017 Mar-Apr;38(2):167-170.

PubMedID: 27096414

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PubMedID: 8600425

Johnson AT, Folberg R, Vrabec MP, Florakis GJ, Stone EM, Krachmer JH. The pathology of posterior amorphous corneal dystrophy. Ophthalmology. 1990 Jan;97(1):104-9.

PubMedID: 2314832

Dunn SP, Krachmer JH, Ching SS. New findings in posterior amorphous corneal dystrophy. Arch Ophthalmol. 1984 Feb;102(2):236-9.

PubMedID: 6607727

Carpel EF, Sigelman RJ, Doughman DJ. Posterior amorphous corneal dystrophy. Am J Ophthalmol. 1977 May;83(5):629-32.

PubMedID: 301356