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Posterior amorphous corneal dystrophy(PACD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Corneal Dystrophy, Posterior Amorphous; Posterior Amorphous Corneal Dystrophy
SNOMED CT: Posterior amorphous corneal dystrophy (719296002); Posterior amorphous stromal dystrophy (719296002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0013027
OMIM®: 612868
Orphanet: ORPHA98971


A very rare form of stromal corneal dystrophy with characteristics of irregular amorphous sheet-like opacities in the posterior corneal stroma and in the Descemet membrane along with mildly impaired vision. Prevalence of this form of corneal dystrophy is not known. To date cases have been reported primarily in the USA. Patients usually develop corneal abnormalities in infancy or childhood. The condition is non-progressive or slowly progressive. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris including iridocorneal adhesions, corectopia, and pseudopolycoria. An autosomal dominant pattern of inheritance has been reported. [from SNOMEDCT_US]

Clinical features

From HPO
Corneal dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Iris coloboma
MedGen UID:
Concept ID:
Anatomical Abnormality
A coloboma of the iris.
Congenital ectopic pupil
MedGen UID:
Concept ID:
Congenital Abnormality
Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPosterior amorphous corneal dystrophy
Follow this link to review classifications for Posterior amorphous corneal dystrophy in Orphanet.

Professional guidelines


Ophthalmology 1990 Sep;97(9):1091-2. doi: 10.1016/s0161-6420(13)38020-8. PMID: 2234837

Recent clinical studies


Basbus FJ, Cremona FA, Lucero Saá F, Chiaradía PA, Francipane L, Menazzi S
Cornea 2022 Apr 1;41(4):491-495. doi: 10.1097/ICO.0000000000002961. PMID: 35044970
Yung M, Chen AC, Chung DD, Barrington A, Zhang J, Frausto RF, Magalhaes OA, Aldave AJ
Ophthalmic Genet 2021 Aug;42(4):486-492. Epub 2021 May 18 doi: 10.1080/13816810.2021.1923034. PMID: 34003075
Cervantes AE, Gee KM, Whiting MF, Frausto RF, Aldave AJ
Ophthalmic Genet 2018 Aug;39(4):419-424. Epub 2018 Apr 19 doi: 10.1080/13816810.2018.1459736. PMID: 29671669Free PMC Article
Odent S, Casteels I, Cassiman C, Dieltiëns M, Hua MT, Devriendt K
Ophthalmic Genet 2017 Mar-Apr;38(2):167-170. Epub 2016 Apr 20 doi: 10.3109/13816810.2016.1164194. PMID: 27096414
Dunn SP, Krachmer JH, Ching SS
Arch Ophthalmol 1984 Feb;102(2):236-9. doi: 10.1001/archopht.1984.01040030186023. PMID: 6607727


Lenk J, Porrmann J, Smitka M, Eger I, Schröck E, Hackmann K, Herber R, Raiskup F, Tzschach A
Ophthalmic Genet 2018 Oct;39(5):645-647. Epub 2018 Jul 30 doi: 10.1080/13816810.2018.1502792. PMID: 30058938
Fay J, Herzlich AA, Florakis GJ
Cornea 2017 Dec;36(12):1562-1566. doi: 10.1097/ICO.0000000000001304. PMID: 28902010

Clinical prediction guides

Lenk J, Porrmann J, Smitka M, Eger I, Schröck E, Hackmann K, Herber R, Raiskup F, Tzschach A
Ophthalmic Genet 2018 Oct;39(5):645-647. Epub 2018 Jul 30 doi: 10.1080/13816810.2018.1502792. PMID: 30058938
Kim MJ, Frausto RF, Rosenwasser GO, Bui T, Le DJ, Stone EM, Aldave AJ
PLoS One 2014;9(4):e95037. Epub 2014 Apr 23 doi: 10.1371/journal.pone.0095037. PMID: 24759697Free PMC Article
Aldave AJ, Rosenwasser GO, Yellore VS, Papp JC, Sobel EM, Pham MN, Chen MC, Dandekar S, Sripracha R, Rayner SA, Sassani JW, Gorin MB
Invest Ophthalmol Vis Sci 2010 Aug;51(8):4006-12. Epub 2010 Mar 31 doi: 10.1167/iovs.09-4067. PMID: 20357198Free PMC Article

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