Neuropathy congenital sensory neurotrophic keratitis

Neuropathy Congenital Sensory Neurotrophic Keratitis (NCSNK) is a rare neurological disorder characterized by the congenital absence or impairment of sensory innervation in the cornea, leading to keratitis, a condition marked by inflammation and potential damage to the cornea. This disorder falls within the broader category of neuropathies, which are diseases affecting the nervous system, specifically targeting the peripheral nerves.

Etiology and Pathophysiology

The exact cause of NCSNK remains largely unknown, but it is believed to involve genetic mutations that affect the development and function of sensory nerves in the cornea. These nerves play a crucial role in maintaining the health and integrity of the corneal surface by providing trophic support and mediating reflexes that protect the cornea from damage. In NCSNK, the absence or dysfunction of these nerves leads to reduced corneal sensitivity, impaired healing, and increased risk of injury and infection, culminating in neurotrophic keratitis.

Clinical Presentation

Patients with NCSNK typically present with symptoms related to corneal damage and inflammation, including:

• Reduced corneal sensitivity
• Recurrent corneal erosions
• Persistent epithelial defects
• Corneal ulceration
• Visual impairment

The severity of symptoms can vary widely among individuals, ranging from mild discomfort to significant vision loss.

Diagnosis

Diagnosis of NCSNK involves a comprehensive eye examination, including:

• Assessment of corneal sensitivity using a Cochet-Bonnet esthesiometer or similar device
• Slit-lamp examination to evaluate the extent of corneal damage
• Corneal staining with fluorescein to highlight epithelial defects

Genetic testing may also be conducted to identify mutations associated with the disorder, although such testing is not routinely available.

Treatment

Treatment of NCSNK focuses on protecting the cornea from further damage and promoting healing. Strategies may include:

• Artificial tears and lubricating ointments to maintain corneal hydration
• Therapeutic contact lenses to protect the cornea
• Antibiotic drops or ointments to prevent or treat infection
• Surgical interventions, such as amniotic membrane transplantation or corneal transplantation, in severe cases

Prognosis

The prognosis for individuals with NCSNK varies depending on the severity of the condition and the effectiveness of treatment. Early intervention and diligent management can help prevent serious complications and preserve vision.

See Also

• Neuropathy
• Keratitis
• Cornea
• Nervous System