Granular corneal dystrophy type I

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

The granular corneal dystrophy type I is a very rare congenital form of granular corneal dystrophy with multiple small superficial deposits centrally located in the stroma of the cornea .

Granular corneal dystrophy type I, numerous irregularly shaped friable corneal opacities

Synonyms are: GCD1; Granular corneal dystrophy, classical; Groenouw corneal dystrophy type I; Groenouw Syndrome; Corneal dystrophy, granular; Corneal dystrophy, friable; Bücklers I corneal dystrophy; Corneal degeneration, familial, Fleischer (type I); English Groenouw-Fleischer dystrophy; Fleischer's dystrophy ; Latin dystrophia corneae granulosa

The names refer to the author of the first description from 1890 by the German ophthalmologists Arthur Groenouw , Bruno Fleischer (1874–1965) and Max Bücklers (1895–1969).

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease are mutations in TGFBI - gene on chromosome 5 locus q31.1 based encoding the multifunctional protein keratoepithelin.

Clinical manifestations

Clinical criteria are:

  • Disease development in the first 10 years of life
  • small, rounded to jagged opacities in the center of the cornea embedded in clear corneal parts
  • visual acuity decreases only late
  • Early sign is photophobia
  • often recurring erosions

diagnosis

The lesions in the stroma appear as white, discrete, irregularly shaped, sharply defined spots.

Differential diagnosis

The other forms of granular corneal dystrophy must be distinguished .

literature

  • HU Møller: Granular corneal dystrophy Groenouw type I. Clinical and genetic aspects. In: Acta ophthalmologica. Supplement. No. 198, 1991, pp. 1-40, PMID 1651039 (review).
  • emedicine.medscape

Individual evidence

  1. ↑ a b 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 .
  2. ↑ a b c Granular corneal dystrophy type I. In: Orphanet (database for rare diseases).
  3. ^ A. Groenouw: Nodular corneal opacities (noduli corneae). In: Archiv Augenheilkunde , Munich Vol. 21, 1890, pp. 281–289.
  4. ↑ B. Fleischer: About familial corneal degeneration. In: Archives for Ophthalmology, 1905, Vol. 53; Pp. 263-344.
  5. ^ Corneal dystrophy, Groenouw type I.  In: Online Mendelian Inheritance in Man . (English)

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