Late onset dominant cone dystrophy

Late Onset Dominant Cone Dystrophy (LODCD) is a rare eye disease characterized by the progressive loss of cone cells, which are responsible for color vision and central visual acuity. This condition typically manifests in adulthood, leading to a gradual decline in the ability to see colors and fine details. Unlike some other forms of cone dystrophy, LODCD is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene from an affected parent is sufficient to cause the disorder.

Symptoms

The primary symptoms of Late Onset Dominant Cone Dystrophy include:

• Loss of color vision
• Decreased visual acuity
• Increased sensitivity to light (photophobia)
• Central vision loss

These symptoms typically begin in adulthood, with the degree and progression of vision loss varying widely among affected individuals.

Causes

LODCD is caused by genetic mutations that affect the function of the cone cells in the retina. The specific genes involved can vary, but mutations in the GUCY2D gene are among the most commonly identified causes. This gene plays a crucial role in the phototransduction pathway, which is essential for converting light into electrical signals in the retina.

Diagnosis

Diagnosis of Late Onset Dominant Cone Dystrophy involves a comprehensive eye examination, including:

• Detailed medical and family history
• Visual acuity test
• Color vision testing
• Electroretinogram (ERG) to measure the electrical responses of the retina's light-sensitive cells
• Optical coherence tomography (OCT) to obtain detailed images of the retina

Treatment

There is currently no cure for LODCD, and treatment focuses on managing symptoms and improving quality of life. Options may include:

• Use of corrective lenses
• Low vision aids
• Counseling and support to adjust to changes in vision

Prognosis

The prognosis for individuals with Late Onset Dominant Cone Dystrophy varies. While the condition typically leads to progressive vision loss, the rate and extent of deterioration differ among patients. Many individuals maintain functional vision well into adulthood.

Research

Research efforts are ongoing to better understand the genetic basis of LODCD and to develop potential treatments. Gene therapy, which aims to correct the underlying genetic defects causing the disease, represents a promising area of investigation.

Late onset dominant cone dystrophy Resources
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