Sclerocornea

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Sclerocornea
Autosomal dominant - en.svg
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Corneal opacity, vision impairment
Complications Blindness
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutations
Risks Family history
Diagnosis Clinical examination, genetic testing
Differential diagnosis Corneal dystrophy, Peter's anomaly
Prevention N/A
Treatment Corneal transplant
Medication N/A
Prognosis Variable, depending on severity
Frequency Rare
Deaths N/A


Sclerocornea
Sclerocornea
Sclerocornea
Sclerocornea
Sclerocornea

Sclerocornea is a rare, congenital anomaly that affects the cornea of the eye. It is characterized by the partial or complete absence of the corneal limbus, leading to a non-transparent cornea that resembles the sclera, the white part of the eye.

Symptoms and Signs

Patients with sclerocornea often present with visual impairment or blindness. The condition may be associated with other ocular and systemic abnormalities, such as microphthalmia, aniridia, and Peter's anomaly.

Causes

The exact cause of sclerocornea is unknown, but it is thought to be due to a developmental defect during embryogenesis. It can occur sporadically or be inherited in an autosomal dominant or autosomal recessive manner.

Diagnosis

Diagnosis of sclerocornea is primarily based on clinical examination. Slit lamp examination may reveal a non-transparent cornea with no clear distinction between the cornea and the sclera. Additional tests, such as ultrasound biomicroscopy and optical coherence tomography, may be used to further assess the structure of the eye.

Treatment

There is currently no cure for sclerocornea. Treatment is aimed at managing the symptoms and preventing complications. This may include the use of contact lenses or corneal transplantation. However, the prognosis for visual recovery is generally poor.

See also




NIH genetic and rare disease info

Sclerocornea is a rare disease.




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Contributors: Prab R. Tumpati, MD