Schnyder Corneal Dystrophy

Alternative Names

  • SCCD
  • Crystalline Stromal Dystrophy
  • Hereditary Crystalline Stromal Dystrophy of Schnyder
  • SCD
  • Schnyder Crystalline Corneal Dystrophy
  • Schnyder Crystalline Dystrophy Sine Crystals
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of sclera, cornea, iris and ciliary body

OMIM Number

121800

Mode of Inheritance

Autosomal dominant

Gene Map Locus

1p36.22

Molecular Genetics

Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy.  It is characterized by clouding of the cornea that results from abnormal deposition of cholesterol and phospholipids. In about 50% of the patients, crystalline cholesterol deposits may be seen in the cornea.  Affected persons experience progressive decrease in visual acuity and may have blurring, and/or glare.  Bilateral lesions, centrally located, usually appear early in life, however, one eye may become affected before the other.  Deposits occur in the anterior stroma near Bowman membrane and reach into deeper layers.  Hypercholesterolemia, arcus lipoides and genu valgum have been reported in association with SCD. Diagnosis can be achieved through ophthalmological examination, lipid profile and genetic testing. 

Mutations in the UBIAD1 gene causes SCD which is inherited in an autosomal dominant pattern.  UBIAD1 gene is located on the short arm of chromosome 1.  It consists of 2 exons and spans about 12 kb.  This gene encodes a protein believed to be involved in the metabolism of cholesterol and phospholipid.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Al-Ghadeer et al. (2011) described two members of a Saudi family with ocular abnormalities.  Ophthalmic examination of the 10-year old patient showed central anterior stromal corneal crystals without corneal opacity.  Her total cholesterol level was elevated (5.4 mmol/L; normal range, 0.0-5.2 mmol/L) while she was fasting.  Her mother is a 35-year old Saudi lady, who complained of gradual reduction of vision over the previous 10 years. Her ophthalmic examination showed central anterior stromal opacity with crystalline deposits and prominent arcus lipoides in both corneas. Al-Ghadeer et al. (2011) identified a heterozygous mutation in the UBIAD1 gene. This mutation has been described previously in the literature. 

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