Schnyder corneal dystrophy

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

The Schnyder dystrophy (SCD) is a very rare congenital form of a corneal dystrophy of the stroma with clouding of the cornea and deposits of crystals with increasing loss of vision .

Synonyms are: crystalline stromal dystrophy; SCD; Schnyder's crystalline corneal dystrophy (SCCD); Schnyder's crystalline dystrophy without crystals; Schnyder's hereditary crystalline stromal dystrophy; Central stromal crystalline corneal dystrophy; Latin Degeneratio cristallinea corneal hereditaria

The name refers to the author of the first description from 1929 by WF Schnyder.

The first description comes from JM Van Went and F. Wibaut in 1924.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant . The majority of those affected come from Sweden or Finland .

root cause

The disease are mutations in UBIAD1 - gene on chromosome 1 locus p36.22 based encoding Ubia prenyl domain containing 1 (transitional epithelial response protein 1), which in cholesterol metabolism plays a role.

Clinical manifestations

Clinical criteria are:

  • Onset of illness in childhood or young adulthood
  • mostly bilateral, but not always simultaneous changes
  • ring-shaped, yellowish-white cloudiness from fine crystals in the Bowman membrane , only detectable in about 50%
  • gradually decreasing visual acuity

Differential diagnosis

Other forms of corneal dystrophy, lipid keratopathies, especially LCAT deficiency , cystinosis , tyrosinemia , and Bietti crystal dystrophy must be differentiated .

literature

  • BR Lin, RF Frausto, RC Vo, SY Chiu, JL Chen, AJ Aldave: Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. In: Journal of ophthalmology. Vol. 2016, 2016, p. 1968493, doi: 10.1155 / 2016/1968493 , PMID 27382485 , PMC 4921136 (free full text).
  • TL Rittenbach: A case of Schnyder corneal dystrophy with crystals. In: Optometry and vision science: official publication of the American Academy of Optometry. Vol. 90, No. 12, December 2013, pp. E301 – e304, doi: 10.1097 / OPX.0000000000000076 , PMID 24121409 .

Individual evidence

  1. ↑ a b c Schnyder corneal dystrophy. In: Orphanet (Rare Disease Database).
  2. ↑ IC3D classification
  3. ↑ Who named it
  4. ^ WF Schnyder: Communication about a new type of familial corneal disease. Abstract. In: Swiss Medical Weekly , Basel, 1929, Vol. 10, p. 559.
  5. ↑ WF Schnyder: Disc-shaped crystal deposits in the middle of the cornea as hereditary diseases (degeneratio cristallinea corneal hereditaria). In: Clinical monthly sheets for ophthalmology , 1939, Vol. 103, pp. 494-502.
  6. ↑ JMVan Went, F. Wibaut: Een zyeldzame erfelijke hoornvliesaandoening. In: Nederlands Tijdschrift voor Geneeskunde . 1924. Vol. 68 (B), pp. 2996-2997.
  7. ↑ emedicine
  8. ↑ Corneal dystrophy, Schnyder type.  In: Online Mendelian Inheritance in Man . (English)
  9. ↑ JS White, AJ Khemichian: differential diagnosis of Schnyder corneal dystrophy. In: Developments in ophthalmology. Vol. 48, 2011, pp. 67-96, doi: 10.1159 / 000324078 , PMID 21540632 (review).

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