Inherited Retinal Disease in Jacksonville, Florida
Inherited retinal diseases are genetic conditions in which the light-sensing cells of the retina stop working over time. They are diagnosed on examination and imaging, confirmed by genetic testing, and — for the moment — treated in only one specific genetic form. Getting the molecular diagnosis still matters, and this page explains why.
What they are
More than 250 genes are known to cause inherited retinal disease. The conditions differ in which cells fail first, how fast, and which part of vision goes:
- Retinitis pigmentosa — the most common, affecting roughly 1 in 4,000 people. Rod photoreceptors fail first, so night vision and peripheral vision go before central vision.
- Stargardt disease — the most common inherited macular dystrophy, typically presenting in childhood or early adulthood with loss of central vision.
- Cone and cone-rod dystrophies — central vision, colour vision, and light sensitivity affected first.
- Leber congenital amaurosis — severe visual impairment from infancy.
- Choroideremia, X-linked retinoschisis, Best disease, and many others.
- Syndromic forms such as Usher syndrome (with hearing loss) and Bardet-Biedl syndrome, where the eye finding points to a condition affecting other organs.
Symptoms that should prompt evaluation
- Difficulty seeing in dim light, or taking much longer than others to adjust entering a dark room
- Loss of peripheral vision — bumping into things, difficulty in crowds
- Loss of central or reading vision in a young person
- Light sensitivity out of proportion, or trouble distinguishing colours
- A family history of vision loss, night blindness, or "retinal degeneration"
Diagnosis
We build the diagnosis from the pattern, using imaging performed in our office:
- Optical coherence tomography — measures the surviving photoreceptor layer and follows it over time
- Fundus autofluorescence — reveals patterns of pigment-epithelium loss that are often diagnostic in themselves
- Ultra-widefield fundus photography — documents the full extent of change
- Visual field testing and, where indicated, electroretinography — which measures the retina's electrical response and can detect dysfunction before it is visible
More about our imaging and diagnostic testing.
Genetic testing and counselling
We coordinate genetic testing and genetic counselling for patients with suspected inherited retinal disease. No-cost sponsored panel testing programmes exist for patients with a clinical diagnosis, and we will help you access one.
The obvious question is why bother testing when there is no treatment for most of these conditions. There are four real answers.
- Prognosis. Conditions that look similar on examination behave very differently. Knowing the gene tells you roughly what to expect and when — which is the information people actually need to plan a career, a family, or a house move.
- Inheritance. Between 40 and 50 percent of retinitis pigmentosa presents with no family history at all, so the inheritance pattern usually cannot be inferred from the family tree. Testing establishes whether the risk to children and siblings is high or low. For many families this is the single most valuable result.
- Trial eligibility. Essentially every gene therapy trial requires a molecular diagnosis to enrol. A patient without one cannot participate, and the pipeline is deep.
- Finding syndromic disease. Identifying Usher or Bardet-Biedl syndrome redirects care entirely — hearing, renal, and metabolic management that would otherwise be missed.
Where gene therapy actually stands
This deserves a straight answer, because the gap between headlines and availability is wide.
One gene therapy is FDA-approved for the retina: voretigene neparvovec, for patients whose disease is caused by mutations in both copies of the RPE65 gene. That accounts for a small fraction of inherited retinal disease.
There is no approved gene therapy for retinitis pigmentosa generally, for Stargardt disease, for choroideremia, or for any other inherited retinal condition. Many are in clinical trials — for X-linked retinitis pigmentosa, Stargardt disease, X-linked retinoschisis, and a gene-agnostic optogenetic approach among them — and some are well advanced. None is approved.
If you are told otherwise by a clinic or a website offering treatment, ask which drug, approved by which regulator, for which gene. That question separates the real from the rest.
What we can do now
- Establish the diagnosis precisely and follow it with objective measurements rather than impressions
- Treat the complications, which are often the reversible part — macular swelling in retinitis pigmentosa frequently responds to treatment, and cataract in these patients is worth removing
- Coordinate genetic testing and counselling for you and, where relevant, your family
- Connect you with trials where you are eligible
- Refer for low vision rehabilitation — chronically under-used and often the intervention that changes daily life the most
- Advise on protection — ultraviolet protection and smoking cessation, both reasonable and neither a cure
Questions patients ask
Is there a cure for retinitis pigmentosa?
No. There is one approved gene therapy for a specific genetic cause, RPE65, which applies to a small minority. Trials are ongoing for several other forms. Anyone offering a cure should be asked exactly what they mean.
Why should I have genetic testing if there is no treatment?
For prognosis, for the inheritance risk to your children and siblings, for eligibility in trials, and to catch syndromic conditions that affect the rest of the body. In practice families most often find the inheritance information the most useful.
Will my children have it?
It depends entirely on the inheritance pattern, which usually cannot be worked out from the family history — around half of retinitis pigmentosa cases have no affected relatives. Genetic testing and counselling answers this properly.
Will I go completely blind?
Most people with retinitis pigmentosa retain some useful vision throughout life, though many become legally blind because of the field loss. The course varies enormously between genes and between individuals, which is another reason the molecular diagnosis is worth having.
Do vitamin A supplements help?
This has been debated for decades and the evidence remains contested. High-dose vitamin A carries real risks, including liver toxicity, and it is harmful in some genetic subtypes. Do not start it on your own — discuss it with us and know your gene first.
Getting seen
We accept urgent referrals and see urgent cases within 24 hours. Call (904) 666-5050. Our office is open 8:00 am to 5:00 pm, Monday to Friday, at 3627 University Blvd S, Suite 605, Jacksonville, FL 32216. Our staff speak English, Arabic, and French.
Dr. Elkeeb operates at HCA Florida Memorial Hospital and Baptist Medical Center Jacksonville.
Referring physicians and optometrists: our referral information is here.
Sources: Retinitis Pigmentosa, StatPearls, 2024; FDA, Approved Cellular and Gene Therapy Products (list current to August 2026); Foundation Fighting Blindness, no-cost genetic testing programme; review of gene therapies for inherited retinal diseases, Retinal Physician, October 2025.
This page is general information about a medical condition and is not a substitute for examination and advice from your own physician. Do not start, stop, or change any medication based on what you read here.