What is Hereditary Macular Dystrophies?

Hereditary macular dystrophies are degenerative diseases of the central area of the retina associating primary anomalies of the retinal pigment epithelium and sensory retina. These conditions, whose hallmark is a loss of visual acuity, are a major cause of blindness and affect patients at all ages.

 

Causes and Genetic Inheritance

These disorders are primarily caused by mutations in specific genes responsible for retinal function. Depending on the type of macular dystrophy, the condition may be inherited in different patterns, including:

• Autosomal dominant

• Autosomal recessive (e.g., Stargardt disease)

• X-linked

With the advancement of genetic testing, it is now possible to identify the exact gene involved in many cases, offering clarity to patients and their families.

Common Types of Hereditary Macular Dystrophies

1. Stargardt Disease – The most common form, usually inherited recessively, often begins in childhood or adolescence.

2. Best Disease (Vitelliform Macular Dystrophy) – Typically autosomal dominant, often detected in school-age children.

3. North Carolina Macular Dystrophy

4. Pattern Dystrophy

5. X-linked Retinoschisis

Each type presents with different degrees and patterns of vision loss, age of onset, and genetic causes.

Role of Genetics and Testing

Our hospital offers advanced genetic counseling and diagnostic testing, which helps in:

• Confirming the diagnosis

• Determining the type of inheritance

• Identifying carriers within families

• Planning for future generations
  
  Symptoms to Watch For

• Patients may notice:

• Blurred or distorted central vision

• Difficulty reading or seeing fine details

• Reduced contrast sensitivity

• Problems recognizing faces

• Photophobia (light sensitivity)
  
  Diagnosis and Tests

• Our ophthalmologists use a range of advanced diagnostic tools to assess and confirm hereditary macular dystrophies, including:

• Fundus photography

• Optical Coherence Tomography (OCT)

• Fluorescein angiography

• Electroretinography (ERG)

• Genetic testing