Discover Rare Eye Diseases with Pittsburgh Optometrists

Discover Rare Eye Diseases with Pittsburgh Optometrists

Seeing is often considered the most crucial of our five senses. Our eyes, small yet intricate organs, play a big role in how we navigate the world. They’re highly sophisticated but also vulnerable to various diseases. According to the National Eye Institute, about 4.1 million Americans aged 40 or older have eye disorders. While many are common, some eye conditions are incredibly rare, affecting fewer than 200,000 people in the U.S.

Let’s explore a few of these rare eye diseases:

**Anophthalmia and Microphthalmia:**
These terms describe conditions where one or both eyes are unusually small or even absent. This can occur due to genetic and chromosomal abnormalities during pregnancy, often linked with other birth defects. Unfortunately, there’s no treatment for severe cases, but milder forms might be helped with medical or surgical interventions.

**Bietti’s Crystalline Dystrophy:**
This inherited disease occurs when someone gets a defective gene from both parents. Symptoms include corneal crystals, yellow, shiny deposits on the retina, and gradual retina deterioration. This leads to progressive night blindness and narrowing of the visual field. It predominantly affects people of Asian descent.

**Behcet’s Disease:**
Its exact cause is unknown, but it’s thought to be an autoimmune disorder that inflames blood vessels. Symptoms vary widely but often include mouth and genital sores, eye inflammation, and skin issues. Eye-related symptoms may result in blurred vision, pain, and redness. Other issues can include arthritis, blood clots, and inflammation of the central nervous system and digestive organs. There’s no cure, so treatment focuses on symptom relief and avoiding complications.

**Idiopathic Intracranial Hypertension:**
This involves high pressure around the brain and spinal cord, leading to vision issues like blind spots, poor peripheral vision, double vision, and temporary blindness. Permanent vision loss is also common. Patients may experience symptoms like ringing in the ears and neck and shoulder pain. Regular eye exams and weight loss are recommended to manage this condition.

**Retinitis Pigmentosa:**
This genetic disorder causes the breakdown and loss of cells in the retina. Symptoms usually start in childhood and include difficulty seeing at night and loss of peripheral vision. It’s inherited and results from changes in any of over 50 genes, harming the retina’s photoreceptors. Various treatments can help manage this condition, including devices and services to aid with daily activities, targeted therapies using Vitamin A, and artificial vision devices.

Rare eye diseases cover a broad spectrum, and progress in ophthalmology gives hope for more treatments and therapies. While blindness and low vision might be more commonly known, these other conditions highlight the complexity of eye health.