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Graysons Syndrome (Grayson Wilbrandt corneal dystrophy)
- Graysons Syndrome is an extremely rare disease.
- This syndrome also known as Grayson Wilbrandt corneal dystrophy (GWCD) is one of the rarest form of an eye disease that is corneal dystrophy.
- This GWCD is a mitochondrial condition
- 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
- Grayson Wilbrandt corneal dystrophy
Prevalence
- The prevalence of Graysons Syndrome is less than 1 in 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
The typical age of onset of this condition varies from adolescents to adults
- Adolescent
- Childhood
- Adults
Inheritance
- This condition is Autosomal Dominant
What are the Symptoms of Graysons Syndrome
- The first symptom of Graysons Syndrome is the Erosions in the eye
- 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
What are the risk factors of Graysons Syndrome
- Here are the risk factors of Graysons Syndrome
- There is an approximate 40 to 50 percent risk of this condition in the child below the age group of 20 years if one of the parents has this condition.
- The risk of developing this disorder is purely genetic as Graysons Syndrome is an inherited disease.
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.
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
What is the Prognosis
- Favorable prognosis with prompt treatment
