Posterior amorphous corneal dystrophy

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Classification according to ICD-10
H18.5 Hereditary corneal dystrophies
ICD-10 online (WHO version 2019)

The Posterior Corneal Dystrophy amorphous (PACD) is a very rare congenital form of a corneal dystrophy with irregular, amorphous (amorphous) sheet-like opacities in the rear part of the stroma and in the Descement membrane and only a slight deterioration of visual acuity .

Synonym : posterior amorphous stromal dystrophy; Chromosome 12q21.33 deletion syndrome

The name refers to the first authors of the first description from 1977 by the American Emmett F. Carpel and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease is based on mutations on chromosome 12 locus q21.33.

Clinical manifestations

Clinical criteria are:

  • Onset of illness usually within the first 10 years of life
  • Diffuse gray-whitish, leaf-like corneal opacity that does not progress or only progresses slowly, especially in the posterior part of the stroma
  • only slightly impaired visual acuity

There may also be changes in other parts of the eye, such as irido-corneal adhesions, corectopia and pseudo- polycoria .

Differential diagnosis

Other forms of corneal dystrophy are to be distinguished.

literature

  • MJ Kim, RF Frausto, GO Rosenwasser, T. Bui, DJ Le, EM Stone, AJ Aldave: Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. In: PLOS ONE . Vol. 9, No. 4, 2014, p. E95037, doi: 10.1371 / journal.pone.0095037 , PMID 24759697 , PMC 3997350 (free full text).
  • LA Oliveira, LA Vieira, D. d. Freitas, LB Sousa: Distrofia corneana amorfa posterior: relato de caso. In: Arquivos brasileiros de oftalmologia. Vol. 69, No. 6, 2006 Nov-Dec, pp. 945-947, PMID 17273695 .

Individual evidence

  1. ↑ a b c Corneal dystrophy, amorphous posterior. In: Orphanet (Rare Disease Database).
  2. ↑ a b IC3D classification
  3. ↑ EF Carpel, RJ Sigelman, DJ Doughman: Posterior amorphous corneal dystrophy. In: American journal of ophthalmology. Vol. 83, No. 5, May 1977, pp. 629-632, PMID 301356 .
  4. ↑ Corneal dystrophy, posterior amorphous.  In: Online Mendelian Inheritance in Man . (English)