Graysons Syndrome (Grayson Wilbrandt corneal dystrophy)

Graysons Syndrome (Grayson Wilbrandt corneal dystrophy)

  • Graysons Syndrome is an extremely rare disease.
  • Grayson Wilbrandt corneal dystrophy (GWCD) is one of the rarest form of an eye disease, corneal dystrophy.
  • GWCD is a mitochondrial disease
  • The disease results from deficiency of a substance in the body called nadph.
  • This deficiency is due to reduced activity of NADPH.
  • This condition is characterized by varied patterns of opacification in the structure of cornea known as the Bowman layer of the cornea
  • This layer of the cornea extends anteriorly into the epithelium with decreased to normal visual acuity.
  • This disease results from a mutation usually a homozygous one.
  • This mutation is in the NADK2 gene on chromosome 5p13.

Synonyms of Graysons Syndrome

  1. Grayson Wilbrandt corneal dystrophy

Prevalence

<1 / 1000000

The existence of Grayson Wilbrandt corneal dystrophy as a distinct entity is questionable

Prevalence of this form of corneal dystrophy is mostly unknown

As of now there is an evidence of only one report of an incompletely studied family

Age of Onset

  1. Adolescent
  2. Childhood
  3. Adults

Inheritance

Autosomal Dominant 

What are the Symptoms of Graysons Syndrome

  • Erosions in the eye is the first symptom of Graysons Syndrome
  • These erosions are painful
  • The usual onset of these erosions in the first and second decade of life.
  • The erosions are less severe than other forms of corneal dystrophies like Reis Bucklers corneal dystrophy and Thiel Behnke corneal dystrophy.
  • Slight decrease in vision is the next symptom
  • The course of this disease is most commonly progressive.

What causes this condition

What causes Graysons Syndrome is mostly unknown

The etiology of this condition might be genetic

How is this disease diagnosed?

  • The diagnosis of this Graysons Syndrome is by slit-lamp examination
  • Slit-lamp examination reveals variable patterns of opacification in the Bowman layer
  • This opacification varies from diffuse mottling to diffuse gray-white opacities.
  • The opacities extend anteriorly into the epithelium
  • The cornea between these deposits is usually clear.

What is the Prognosis

Favorable prognosis with prompt treatment

How is Graysons Syndrome treated?

Surgery is the preferred option of treatment for this Grayson Wilbrandt corneal dystrophy

The vision can be restored by the surgical procedures such as penetrating keratoplasty or superficial keratectomy

 

 

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