Summary about Disease
Rutherford's dystrophy, also known as familial corneal dystrophy of Bowman layer type II, is a rare genetic eye disorder affecting the cornea, the clear front surface of the eye. It's characterized by irregular opacities (clouding) in Bowman's layer, a thin layer just beneath the corneal surface. This clouding leads to blurred vision and other visual disturbances. It is usually bilateral, meaning it affects both eyes.
Symptoms
Blurred vision
Glare or halos around lights
Photophobia (sensitivity to light)
Foreign body sensation (feeling like something is in the eye)
Eye pain (sometimes)
Progressive vision loss, although the rate of progression varies.
Causes
Rutherford's dystrophy is caused by mutations in the TGFBI gene (Transforming Growth Factor Beta Induced). This gene provides instructions for making a protein called keratoepithelin (also known as BIGH3). This protein is involved in cell adhesion and tissue organization in the cornea. Mutations in this gene disrupt the normal structure and function of Bowman's layer, leading to the characteristic corneal opacities. It is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed to cause the disorder.
Medicine Used
4. Medicine used There is no specific medication to cure or halt the progression of Rutherford's dystrophy. Treatment focuses on managing symptoms and improving vision. Options may include:
Lubricating eye drops: To alleviate dryness and foreign body sensation.
Bandage contact lenses: To protect the corneal surface and reduce pain.
Corneal transplantation: In severe cases, a corneal transplant (penetrating keratoplasty or lamellar keratoplasty) may be necessary to restore vision.
Phototherapeutic keratectomy (PTK): A laser procedure to remove superficial corneal opacities.
Is Communicable
No, Rutherford's dystrophy is not communicable. It is a genetic disorder, meaning it is inherited and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent getting Rutherford's dystrophy, as it is a genetic condition. Genetic counseling is recommended for individuals with a family history of the disorder who are considering having children. General eye care, such as protecting eyes from UV light and avoiding excessive eye rubbing, is always beneficial, but will not prevent the disease.
How long does an outbreak last?
Rutherford's dystrophy is not an "outbreak" type of disease. It is a chronic, progressive condition. Symptoms typically develop gradually over time. While symptom severity can fluctuate, there is no specific "outbreak" period with a defined beginning and end.
How is it diagnosed?
Diagnosis typically involves a comprehensive eye exam, including:
Slit-lamp examination: To visualize the cornea and identify characteristic opacities in Bowman's layer.
Corneal topography: To map the surface of the cornea and detect irregularities.
Pachymetry: To measure the thickness of the cornea.
Confocal microscopy: To examine the cornea at a cellular level.
Genetic testing: To confirm the diagnosis by identifying mutations in the TGFBI gene.
Timeline of Symptoms
9. Timeline of symptoms
Early childhood or adolescence: Symptoms often begin in childhood or adolescence, but can sometimes present later in life.
Gradual progression: Vision slowly deteriorates over time.
Variable severity: The rate of progression and severity of symptoms can vary significantly between individuals, even within the same family.
Plateaus and exacerbations: Some individuals may experience periods of stability, while others may have more rapid progression or exacerbations of symptoms.
Important Considerations
Genetic counseling: Important for families with a history of Rutherford's dystrophy.
Regular eye exams: Essential for monitoring the progression of the disease and managing symptoms.
Protective eyewear: Sunglasses can help reduce glare and photophobia.
Corneal transplantation challenges: While corneal transplantation can be effective, there is a risk of recurrence of the dystrophy in the transplanted cornea over time.
Research: Ongoing research is aimed at better understanding the disease and developing new treatments.