Reis Bucklers Dystrophy

Reis-Bücklers Corneal Dystrophy: An Overview

Reis-Bücklers Corneal Dystrophy (RBCD) is a rare genetic disorder that affects the cornea, the clear outer layer of the eye that covers the iris and pupil. The disorder is caused by mutations in the TGFBI (transforming growth factor beta-induced) gene, which is responsible for the production of a protein called keratoepithelin.

Symptoms and Diagn

RBCD typically presents in early adulthood and presents with symptoms such as:

  • Painless, blurred vision or visual distortions
  • Photophobia
  • Glare or halos around lights
  • Sensitivity to bright lights
  • Irregular-shaped white or gray corneal opacities in the peripheral cornea

To diagnose RBCD, a thorough eye exam is typically performed. An ophthalmologist will observe the corneal opacities and do a complete examination of the eye, including visual acuity testing, to assess visual function and potential vision loss. Genetic testing may also be done to confirm the diagnosis and identify the specific gene mutation responsible for the disorder.

Types and Stages of Reis-Bücklers Corneal Dystrophy

RBCD is classified into two types: Type I and Type II.

Type I: It is characterized by the presence of small, white or gray opacities in the peripheral cornea. These opacities can appear in any stage of the disorder and may be associated with a mild loss of vision.

Type II: it is characterized by the presence of larger and more numerous opacities in the peripheral cornea. This type may be associated with a more severe loss of vision.

The disorder has 3 stages:

  1. Asymptomatic stage: In this stage, there is no visible signs of corneal opacity or symptoms.
  2. Symptomatic stage: In this stage, the individual will start experiencing symptoms like blurred vision, glare or halos around lights. The opacities in the cornea are not typically visible in this stage.
  3. Advanced stage: In this stage, the opacities are visible and the individual will experience a severe loss of vision.

Treatment and Management

The treatment of Reis-Bücklers Corneal Dystrophy (RBCD) varies depending on the type and stage of the disorder.

  1. Asymptomatic stage: In this stage, there is usually no treatment required and the individual will be monitored for progression of the disorder.
  2. Symptomatic stage: In this stage, the use of artificial tears, eye drops, and ointments can help manage symptoms, but they do not prevent the progression of the disorder. Corneal cross-linking and phototherapeutic keratectomy may be recommended as a treatment option in this stage.
  3. Advanced stage: In this stage, a corneal transplant may be necessary to restore vision.

It's important to note that even after the treatment, some vision loss is irreversible. Also, RBCD is a lifelong disorder and the individual will require frequent follow-up appointments with the eye doctor to monitor for any progression or complications.

Prognosis

The prognosis for RBCD depends on the type and stage of the disorder. In early stages, the disorder is usually asymptomatic and the individual may not experience any vision loss. In later stages, there may be severe vision loss and require a corneal transplant.

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