Coloboma of choroid and retina

=Coloboma of Choroid and Retina = Coloboma of the choroid and retina is a rare congenital condition characterized by a defect in the structure of the eye, specifically affecting the choroid and retina. This condition can lead to various degrees of visual impairment depending on the size and location of the coloboma.

Etiology

Coloboma of the choroid and retina occurs due to incomplete closure of the embryonic fissure during eye development. This failure in closure results in a gap or defect in the eye structures, which can affect the choroid, retina, and sometimes other parts of the eye such as the iris or optic nerve.

Clinical Presentation

Patients with coloboma of the choroid and retina may present with:

• Visual impairment: The degree of vision loss varies depending on the size and location of the coloboma.
• Photophobia: Sensitivity to light may occur.
• Nystagmus: Involuntary eye movements can be present in some cases.

Diagnosis

Diagnosis of coloboma of the choroid and retina is typically made through:

• Ophthalmoscopy: Direct examination of the retina and choroid to identify the coloboma.
• Optical coherence tomography (OCT): Imaging technique to assess the structure of the retina.
• Ultrasound: May be used to evaluate the extent of the coloboma.

Management

There is no cure for coloboma of the choroid and retina, but management focuses on optimizing vision and quality of life:

• Vision correction: Glasses or contact lenses may be prescribed to improve vision.
• Low vision aids: Devices such as magnifiers can help patients with significant vision loss.
• Regular monitoring: Routine eye exams to monitor for complications such as retinal detachment.

Prognosis

The prognosis for individuals with coloboma of the choroid and retina varies. Some individuals may have minimal visual impairment, while others may experience significant vision loss. Early intervention and supportive care can help maximize visual function.

Epidemiology

Coloboma of the choroid and retina is a rare condition, with an estimated prevalence of 0.5 to 0.7 per 10,000 live births. It can occur as an isolated defect or as part of a syndrome, such as CHARGE syndrome.

Genetic Considerations

Coloboma can be associated with genetic syndromes and may have a hereditary component. Genetic counseling may be recommended for affected families.

See Also

• Coloboma
• CHARGE syndrome
• Retinal detachment
• [1] "Coloboma of the Choroid and Retina." Rare Diseases Database. National Organization for Rare Disorders (NORD).
• [2] "Ocular Coloboma." Genetics Home Reference. U.S. National Library of Medicine.

NIH genetic and rare disease info

• NIH info on Coloboma of choroid and retina

Coloboma of choroid and retina is a rare disease.