Macular dystrophy, vitelliform

A genetic eye disorder affecting the macula

Macular dystrophy, vitelliform
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Blurred or distorted vision, central vision loss
Complications	N/A
Onset	Childhood or adulthood
Duration	Progressive
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Eye examination, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Low vision aids, supportive care
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

Macular dystrophy, vitelliform is a rare genetic eye disorder that affects the macula, the central part of the retina responsible for detailed vision. This condition is characterized by the accumulation of yellowish material in the macula, leading to progressive vision loss.

Pathophysiology

The condition is caused by mutations in genes responsible for the normal functioning of the retinal pigment epithelium and photoreceptors. The most commonly associated gene is the BEST1 gene, which encodes the protein bestrophin-1. Mutations in this gene disrupt the normal ionic balance in the retinal cells, leading to the accumulation of lipofuscin-like material in the macula.

Clinical Presentation

Patients with macular dystrophy, vitelliform typically present with:

• Blurred or distorted vision (metamorphopsia)
• Difficulty reading or recognizing faces
• Central vision loss

The onset of symptoms can vary, with some individuals experiencing symptoms in childhood (juvenile form) and others in adulthood (adult-onset form).

Diagnosis

Diagnosis is based on:

• Comprehensive eye examination
• Optical coherence tomography (OCT) to visualize the layers of the retina
• Fluorescein angiography to assess blood flow in the retina
• Genetic testing to identify mutations in the BEST1 gene or other associated genes

Management

There is currently no cure for macular dystrophy, vitelliform. Management focuses on:

• Monitoring the progression of the disease
• Providing low vision aids to assist with daily activities
• Genetic counseling for affected individuals and their families

Prognosis

The progression of vision loss varies among individuals. Some may maintain relatively good vision for many years, while others may experience significant vision impairment.

Also see

• Macular degeneration
• Retinitis pigmentosa
• Stargardt disease
• Best disease