Sclerocornea

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Sclerocornea
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

File:Phenotypic appearance in patients with sclerocornea, aphakia, and microphthalmia.jpg

Sclerocornea

File:Vertebrate eye development (human eye).jpg

Sclerocornea

File:US Navy 040128-N-8861F-001 Hospital Corpsman 2nd Class Jamie Zhunepluas from Queens, N.Y., gets a slit lamp eye exam by Lt. Cmdr. Jacqueline Pierre from Shelbyville, Texas.jpg

Sclerocornea

File:Congenital eye diseases associated with neural crest defects in the anterior segment.jpg

Sclerocornea

File:Figure 4 RAD21 Functions in various cellular processes. .tif

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

• Corneal dystrophy
• Corneal ulcer
• Keratoconus

NIH genetic and rare disease info

• NIH info on Sclerocornea

Sclerocornea is a rare disease.