Gelatinous teardrop-shaped corneal dystrophy

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

The gelatinous drop-like Hornhautdysplasie (GDLD) is a very rare congenital form of a superficial corneal dystrophy with numerous milky gelatinous nodules under the epithelium of the cornea .

Completely cloudy cornea with numerous teardrop-like nodules, some blood vessels are visible

Synonyms are: subepithelial amyloidosis; Primary familial amyloidosis (Grayson); English amyloidosis, corneal; Amyloid Corneal Dystrophy, Japanese Type; Corneal Dystrophy, Lattice Type III; Lattice Corneal Dystrophy, TYPE III

The first description comes from 1914 by G. Nakaizumi. (Quoted from DS Gartry.)

distribution

The frequency is given as 1–9 in 1,000,000, most of the observations come from Japan , frequency there 1 in 300,000. Inheritance is autosomal - recessive .

root cause

Of the disease are mutations in TACSTD2 - gene on chromosome 1 locus p32.1 based encoding the tumor-associated calcium signal-carriers. 2

Clinical manifestations

Clinical criteria are:

  • Onset of illness in the 1st or 2nd decade of life
  • multiple prominent milky white gelatinous nodules under the corneal epithelium
  • significant photophobia
  • increased tearing
  • Foreign body sensation
  • increasing loss of vision

Differential diagnosis

Other forms of corneal dysplasia are to be distinguished.

history

The first description outside of Japan comes from EF Levkojewa in 1930.

literature

  • H. Kaza, MR Barik, MM Reddy, R. Mittal, S. Das: Gelatinous drop-like corneal dystrophy: a review. In: The British journal of ophthalmology. Vol. 101, No. 1, January 2017, pp. 10-15, doi: 10.1136 / bjophthalmol-2016-309555 , PMID 27913443 (review).
  • P. Jongkhajornpong, K. Lekhanont, M. Ueta, K. Kitazawa, S. Kawasaki, S. Kinoshita: Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy. In: Human genome variation. Vol. 2, 2015, p. 15047, doi: 10.1038 / hgv.2015.47 , PMID 27081552 , PMC 4785563 (free full text).
  • O. Lezrek, C. Daoudi, H. Handor, A. Belmokhtar, K. Naciri, Z. Hafidi, M. Laghmari, M. Lezrek, R. Daoudi: Dystrophie gélatineuse de la cornée. In: Journal francais d'ophtalmologie. Vol. 38, No. 1, January 2015, p. 90, doi: 10.1016 / j.jfo.2014.05.009 , PMID 25455555 .

Individual evidence

  1. ↑ a b c Corneal dystrophy, gelatinous teardrop-shaped. In: Orphanet (Rare Disease Database).
  2. ↑ a b IC3D classification
  3. ↑ G. Nakaizumi: A rare case of corneal dystrophy. In: Nippon Ganka Gakkai Zasshi , 1914; Vol. 18, pp. 949-50.
  4. ↑ DS Gartry, MG Falcon, RW Cox: Primary gelatinous drop-like keratopathy. In: The British journal of ophthalmology. Vol. 73, No. 8, August 1989, pp. 661-664, PMID 2669942 , PMC 1041841 (free full text) (review).
  5. ↑ Corneal dystrophy, gelatinous drop-like.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ EF Lewkojewa: About a case of primary Degenerationamyloidose the cornea. In: Klinische Monatsblätter Augenheilkunde Vol. 85, 1930, pp. 117-137.