Corneal dystrophy

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

The corneal dystrophy (HD) is a group different, congenital non-inflammatory, progressive diseases ( dystrophy ) formed on the cornea are limited on both sides.

Corneal dystrophy, gelatinous teardrop shape

The first description of corneal dystrophy comes from the year 1890 by the German ophthalmologist Arthur Groenouw .

distribution

The frequency of individual forms varies, but overall it is rare.

In the context of syndromes

Corneal dystrophy is an essential characteristic of the disease in the following syndromes:

root cause

Depending on the genetic disorder, inheritance is autosomal dominant , autosomal recessive or X-linked recessive.

The various corneal dystrophies are caused by mutations in the genes CHST6 ( locus 16q22), COL8A2 (1p34.3-p32.3), KRT3 (12q13), KRT12 (17q12), PIP5K3 (2q35), SLC4A11 (20p13-p12), TACSTD2 ( 1p32), TCF4 (18q21.2), TGFBI (5q31) and UBIAD1 (1p36.3).

Classification

Clinically, a classification can be made according to localization:

  • anterior form
  • stromal form
  • posterior form

There is also autosomal dominant keratitis .

classification

In 2015 the "IC3D Classification of Corneal Dystrophies — Edition 2" was published with the following division into four groups:

Clinical manifestations

Clinical criteria are corneal opacity in different shapes and forms with corresponding impairment of visual acuity .

diagnosis

Corneal dystrophies should always be considered, especially with bilateral corneal opacities. The diagnosis is based on the age at the onset of the disease and the appearance of the cornea during the slit lamp examination .

Differential diagnosis

Congenital systemic metabolic diseases with corneal involvement are to be distinguished:

Individual evidence

  1. ↑ a b c d e corneal dystrophy. In: Orphanet (Rare Disease Database).
  2. ^ A. Groenouw: Nodular corneal opacities. (Noduli corneae) In: Archives for Ophthalmology. 1890, Vol. 21, pp. 281-289.
  3. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  4. ↑ W. Lisch, B. Seitz: New international classification of corneal dystrophies. In: The ophthalmologist. Vol. 108, 2011, p. 883, doi: 10.1007 / s00347-011-2388-8
  5. ↑ Corneal dystrophy, superficial. In: Orphanet (Rare Disease Database).
  6. ↑ Stromal corneal dystrophy. In: Orphanet (Rare Disease Database).
  7. ↑ Corneal dystrophy, posterior. In: Orphanet (Rare Disease Database).
  8. ↑ Keratitis, autosomal dominant. In: Orphanet (Rare Disease Database).
  9. ↑ J. Weiss, H. Møller, W. Lisch, S. Kinoshita, A. Aldave, M. Belin, T. Kivelä, M. Busin, F. Munier, B. Seitz, J. Sutphin, C. Bredrup, M Mannis, C. Rapuano, G. Rij, E. Kim, G. Klintworth: IC³D Classification of Corneal Dystrophies. In: Clinical monthly sheets for ophthalmology. Vol. 228, 2011, p. S1, doi: 10.1055 / s-0029-1245895 .

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