Latticed corneal dystrophy
Classification according to ICD-10 | |
---|---|
H18.5 | Hereditary corneal dystrophies |
ICD-10 online (WHO version 2019) |
The latticed corneal dystrophy (LCD) is a comparatively common and severe congenital form of corneal dystrophy with net-like opacity of the cornea .
Synonyms are: latticed corneal dystrophy; Haab Dimmer Corneal Dystrophy; Beaver Haab Dimmer Syndrome; Beaver haab dimmer degeneration; Beaver Haab Dimmer Dystrophy; Classic latticed corneal dystrophy; Haab-Dimmer Syndrome; Latin dystrophia corneae reticulata
The names refer to the author of the first description from 1890 by the Swiss ophthalmologist Hugo Biber, a description by his compatriot Otto Haab and by the German Friedrich Dimmer (1855-1926).
distribution
The frequency is unknown; the inheritance is autosomal dominant .
classification
The previous division into several subtypes
- Type 1, synonyms: LCD type 1; LCD1
- Type 2, synonyms: Agel amyloidosis; Amyloidosis, familial, Finnish type; Amyloidosis, hereditary, Finnish type; Amyloid polyneuropathy, familial, type 4; Gelsolin amyloidosis
- as well as LCD variants (type IIIa, I / IIIa, IV and polymorphic amyloidosis)
was abandoned and is currently summarized as "latticed corneal dystrophy".
root cause
The disease are mutations in TGFBI - gene on chromosome 5 , locus q31.1, based encoding keratoepithelin.
Clinical manifestations
Clinical criteria are:
- Onset of illness in the first two decades of life
- increasingly uneven and dull corneal epithelium
- Grid-like, finest line formation in the corneal stroma
- later disc-like opacities and considerable decrease in vision
- decreased corneal sensitivity
- frequent painful erosions
Differential diagnosis
The other forms of corneal dystrophy are to be distinguished .
literature
- HS Stewart, R. Parveen, AE Ridgway, R. Bonshek, GC Black: Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. In: The British journal of ophthalmology. Vol. 84, No. 4, April 2000, pp. 390-394, PMID 10729296 , PMC 1723421 (free full text).
- Y. el-Shabrawi, N. Ardjomand, C. Faschinger, G. Höfler: Detection of a point mutation in the keratoepithelin gene. In: Der Ophthalmologe: Journal of the German Ophthalmological Society. Vol. 96, No. 6, June 1999, pp. 405-407, PMID 10429500 .
Individual evidence
- ↑ 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 .
- ↑ a b c Corneal dystrophy, latticed, type 1. In: Orphanet (database for rare diseases).
- ↑ H. Biber: About some rarer corneal diseases. Zurich, 1890. Inaugural dissertation, Zurich, 1890
- ↑ O. Haab: Die gittrige keratitis In: Zeitschrift Augenheilkunde Vol. 2, 1899, pp. 235–246.
- ↑ F. Dimmer: About superficial latticed corneal opacity. In: Zeitschrift Augenheilkunde Vol. 2, 1899, p. 354
- ^ Agel amyloidosis. In: Orphanet (Rare Disease Database).
- ↑ 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 .
- ^ Corneal dystrophy, lattice type I. In: Online Mendelian Inheritance in Man . (English)
- ↑ Corneal dystrophy, lattice type IIIA. In: Online Mendelian Inheritance in Man . (English)