Inherited Retinal Disease (IRD) Specialist in Connecticut: Specialized Care for Lifelong Vision Health
Inherited retinal diseases (IRDs) are a group of disorders that can affect how the retina functions over time, often leading to gradual vision loss. IRDs are rare but can affect patients of all ages and progress at different rates. At Retina Consultants, P.C., patients receive expert, compassionate care backed by more than 40 years of trusted experience in managing complex retinal disorders. Visit any of our five offices in Connecticut and access advanced retinal care from a team that values your eye health.
What are inherited retinal diseases (IRDs)?
Inherited retinal diseases are a group of eye disorders caused by a mutation (change) of one or more genes within the eye. The faulty genes alter the structure and function of the retina, leading to impaired vision. There are over 300 genes known to cause IRDs, and some are more severe than others. IRDs are passed down through families and are not preventable.
Common examples of IRDs include:
- Retinitis pigmentosa: Light-sensing retinal cells die off, causing a gradual loss of peripheral and night vision.
- Stargardt disease: This IRD damages the macula and often begins in childhood, but it’s often diagnosed in adulthood because of slow progression.
- Leber congenital amaurosis (LCA): A rare genetic eye disorder present at birth that results in severe vision loss or blindness early in life.
- Cone-rod dystrophy (CRD): A progressive condition that affects the cones and rods in the retina. CRD leads to decreased central vision, color vision issues, and eventual peripheral vision loss.
- Choroideremia: It commonly affects men and can begin in early childhood. Night blindness is often the first sign, but the person develops tunnel vision and the ability to see details over time.
Symptoms of IRDs depend on the specific condition but may include night blindness, difficulty adjusting to low light, loss of peripheral vision, or a gradual decline in central vision. Since these symptoms can develop slowly, they may go unnoticed in the early stages. That’s why we emphasize regular eye exams to detect and monitor any changes in your vision.
How do you diagnose IRDs?
Precise diagnosis is essential for targeted treatment, educating other family members, and providing patients with information about clinical trials. The initial diagnosis involves gathering details about your family history and analyzing your symptoms.
The next step is a clinical examination, which includes a dilated exam that allows the doctor to assess the retina. Imaging tests, including optical coherence tomography (OCT) and fundus autofluorescence, provide high-resolution images to map retinal thickness and density. Other tests may include visual acuity, electroretinography, and genetic testing.
Why is genetic testing important?
Identifying the genetic cause of disease is an important part of care for individuals with IRDs. Often, it’s difficult to identify the exact type of IRD solely with imaging. Genetic testing provides precise diagnostics that help personalize your care. Genetic tests also determine eligibility for emerging treatments or clinical trials and provide valuable information for family planning.
What treatments are available for IRDs?
Available therapies for inherited retinal diseases focus on preserving vision and improving quality of life. In some cases, patients may benefit from low vision aids, lifestyle modifications, or participation in clinical trials exploring new therapies, including neuroprotective agents and gene therapy. As research continues to advance, new options offer hope of slowing disease progression.
IRD specialist in Connecticut: Expertise you can trust
Living with an inherited retinal disease can feel uncertain, but you don’t have to navigate it alone. With the right support, monitoring, and expert care, it’s possible to protect your vision and maintain your quality of life. At Retina Consultants, P.C., our nationally recognized retinal specialists are here to guide you every step of the way.
Call us at:
Hartford
Manchester
Cromwell
Farmington
