What is Macular Pucker?

Macular pucker affects approximately 10 percent of people, particularly men and women over the age of 50. Based in the center of your retina, the macula is responsible for the part of your vision that allows you to see straight ahead. As you read the text on this page, you are using your macula. When the retinal surface forms an extra layer of tissue and contracts, distorting the retina, it is known as a macular pucker. They look like a piece of scotch tape and can distort the central vision. If you start to notice this, you should see a doctor for macular pucker as soon as possible.

What is Age-Related Macular Degeneration (AMD)?

Age-Related Macular Degeneration (AMD) is a disease, which causes visual loss in patients over the age of 50. The vision loss is painless, usually gradual and not severe, but can be variable among patients. Macular degeneration is named for the macula, the part of the retina responsible for central vision. Peripheral vision is usually not affected by macular degeneration and often, this illness will go unnoticed until a patient engages in a task such as driving or reading, in which central vision is crucial. As the term “degeneration” implies, the illness becomes more noticeable over time and tends to get worse with or without treatment. Macular degeneration typically affects adults over 65 and the main risk factors for the disease are increasing age and genetics (family history of macular degeneration). Smoking, high cholesterol and hypertension are also risk factors. This disease does not cause total blindness and most macular degeneration patients can see well enough to care for themselves.

What is Retinal Tear and Retinal Detachment?

Retinal detachment is treatable when caught early. Treatment may or may not involve an in or outpatient surgical procedure. In cases that do require surgery, a patient may require immediate attention or the procedure may be postponed for days or even weeks depending on the condition’s severity. Two major retinal detachment surgeries include: Vitrectomy: In this procedure, the surgeon removes the vitreous jelly, which has pulled on the retina and caused retinal detachment. Usually, the doctor then replaces the fluid with a gas bubble, which the eye, in time, will absorb and replace with its natural fluids. Doctors may recommend this surgery in instances where:

What is Diabetic Retinopathy?

Diabetic retinopathy is a condition where high blood sugars damage the blood vessels in the retina (the retina is the layer of cells in the back of the eye that transmit light to the brain to form images). There are two main types of diabetic retinopathy: non-proliferative diabetic retinopathy (NPDR) and proliferative diabetic retinopathy (PDR).

What is Retinal Vein Occlusion (RVO) and Macular Edema?

The retina is the light-sensing layer of cells that lines the inner wall of the back of the eye. The retina converts light into signals that are sent to the brain where they are recognized as images. What is Retinal Vein Occlusion? Your retinas require a rich supply of oxygenated blood. This blood is carried to the retina from the heart through arteries, while veins carry deoxygenated blood from the retina back to the heart via the optic nerves. The arteries that transport oxygen to your retina may stiffen and thicken over the years, especially in people with diabetes, cardiovascular disease, high blood pressure and high cholesterol. The retinal arteries and veins are close to the optic nerve and cross various locations on the retina’s surface. As arteries thicken, they can compress the retinal vein at artery-vein crossing points or in the optic nerve. This compression can be so severe that the veins become constricted and thus blood flow to the heart is reduced. The blood then backs up into the retina not unlike the water in a clogged bathtub. The pressure of blood in the veins causes swelling (called macular edema) and bleeding in the retina.

California Inherited Retinal Diseases

Are you looking for a retinal disease specialist in Orange County, CA? At Retina Associates of Orange County, we are board-certified retina providers with 23 years of clinical experience in California.

For many families, an inherited retinal disease diagnosis comes after months or years of unexplained vision changes. Night blindness in a teenager, peripheral vision narrowing in a young adult, or progressive central vision decline that glasses cannot correct can all point to a genetic condition affecting the retina. More than 260 genes are now linked to inherited retinal diseases, and identifying the specific mutation matters because it determines which treatments and clinical trials a patient may be eligible for. Our board-certified retina physicians evaluate, monitor, and manage inherited retinal conditions at four offices in Laguna Hills, Newport Beach, Santa Ana, and Huntington Beach. A California inherited retinal disease specialist can guide you from diagnosis through long-term management and connect you with emerging therapies.

Inherited Retinal Disease Specialist in California, CA

Inherited retinal diseases, sometimes called retinal dystrophies, are a group of genetic disorders that cause the photoreceptor cells in the retina to deteriorate over time. The retina’s rods and cones, the cells responsible for low-light and color vision respectively, gradually stop functioning. The result is progressive vision loss that varies in speed and pattern depending on the specific condition and the gene involved.

These conditions require a retina specialist, not a general ophthalmologist. The diagnostic workup often involves advanced imaging, electrophysiology testing, and coordination with genetic testing laboratories. Our California physicians bring that level of subspecialty focus to each inherited retinal disease evaluation.

Inherited Retinal Disease Services We Offer in California

Inherited retinal diseases are not a single condition. They encompass dozens of distinct diagnoses, each with its own genetic basis, pattern of vision loss, and treatment considerations. Our retina specialists offer the following services to patients across California.

Retinitis pigmentosa evaluation and management. Retinitis pigmentosa is the most common inherited retinal disease, affecting roughly 1 in 4,000 people. It typically begins with night blindness and progresses to tunnel vision as the rod photoreceptors deteriorate. We monitor disease progression with OCT imaging, visual field testing, and electroretinography.
Stargardt disease care. Stargardt disease primarily affects central vision by damaging the macula. It usually appears in childhood or adolescence and can be mistaken for macular degeneration in older patients. Genetic testing confirms the ABCA4 mutation responsible for most cases.
Cone-rod dystrophy assessment. Unlike retinitis pigmentosa, cone-rod dystrophies affect the cone cells first, leading to early central vision loss, color vision problems, and light sensitivity before peripheral vision begins to decline.
Leber congenital amaurosis evaluation. This severe form of inherited retinal disease appears in infancy and causes profound vision loss from the earliest months of life. It is one of the conditions eligible for FDA-approved gene therapy in patients with confirmed RPE65 mutations.
Genetic testing coordination. Identifying the specific gene mutation behind an inherited retinal disease is no longer optional. It informs prognosis, determines eligibility for gene therapy or clinical trials, and provides critical information for family planning. We coordinate thorough genetic testing and help patients interpret the results.
Electroretinography (ERG). Full-field and multifocal ERG testing measures the electrical responses of the retina’s photoreceptors to light. This test provides objective data on how well the rods and cones are functioning and helps us distinguish between different types of retinal dystrophies that may look similar on imaging alone.
Low vision support and referral. For patients whose inherited retinal disease has reached a stage where significant vision loss affects daily function, we provide referrals to low vision rehabilitation specialists who can help maximize remaining sight through assistive devices, training, and adaptive strategies.

Why Choose Retina Associates of Orange County for Inherited Retinal Diseases in California?

A Practice Connected to Retinal Disease Research

Managing inherited retinal diseases requires more than monitoring decline. It requires staying connected to a treatment landscape that is changing faster than in almost any other area of ophthalmology. Dr. John C. Hwang is a board-certified retina specialist who evaluates patients with retinitis pigmentosa, Stargardt disease, and other hereditary conditions. Dr. Mrinali Gupta brings the same fellowship-level training and manages a broad spectrum of retinal diseases in California. Dr. Desmond McGuire completed his retina fellowship at the Shiley Eye Center at UC San Diego after training at Columbia University and St. Vincent’s Hospital in New York. All three are members of the American Society of Retina Specialists and the American Academy of Ophthalmology.

The practice operates a clinical trial network focused on retinal therapies. For patients with inherited conditions, this is particularly meaningful because gene therapy, stem cell research, and novel pharmacologic approaches are being studied in clinical trials right now. Access to those trials can mean access to treatments years before they reach the broader market.

Understanding Inherited Retinal Disease Care

Conditions We Treat and Treatment Options

Inherited retinal diseases share a common feature: genetic mutations that disrupt the normal function of retinal cells. But the clinical picture varies significantly depending on which gene is affected and which cell type is primarily involved.

Retinitis pigmentosa typically affects rod photoreceptors first, causing night blindness and gradual peripheral vision loss. Some forms progress rapidly, while others advance slowly over decades.
Stargardt disease targets the macula and causes central vision loss, usually beginning in the first or second decade of life.
Cone-rod dystrophies present with early color vision deficits and central vision decline before peripheral vision is affected.
Leber congenital amaurosis causes severe vision impairment from infancy. Patients with RPE65 mutations may qualify for gene therapy.
Usher syndrome combines retinitis pigmentosa with hearing loss, and Choroideremia causes progressive loss of the choroid, retinal pigment epithelium, and photoreceptors.

Many of these conditions share overlapping warning signs in their early stages. Accurate genetic diagnosis prevents misclassification and directs patients toward the right monitoring and treatment pathways.

What Should You Expect from an Inherited Retinal Disease Evaluation?

Your first visit will include a dilated fundus exam, OCT imaging, and a detailed personal and family vision history. Your physician will look for characteristic retinal changes such as pigmentary deposits, macular atrophy, or photoreceptor layer thinning.

Electroretinography may be performed to measure how well your rods and cones respond to light stimuli. This test can detect dysfunction before structural damage is visible on imaging.

If an inherited condition is suspected, your physician will recommend genetic testing. A blood draw or saliva sample is sent to a specialized laboratory, and results typically take several weeks. Once the genetic mutation is identified, your physician will discuss what it means for your prognosis, your treatment options, and your family members who may carry the same gene.

Follow-up care is ongoing. Even in the absence of a current treatment, regular monitoring tracks disease progression and keeps you informed about new therapies as they become available.

What Is the Typical Monitoring Timeline?

At the initial evaluation, your physician will establish a baseline for visual acuity, visual field, OCT measurements, and ERG responses. Follow-up visits are typically scheduled every six to twelve months, though this varies by condition. Rapidly progressing diseases require more frequent monitoring.

Genetic test results, once available, are reviewed in a dedicated appointment where your physician explains the mutation type, inheritance pattern, and implications for treatment eligibility. For patients eligible for gene therapy or a clinical trial, referral and enrollment can begin as soon as the genetic diagnosis is confirmed.

There is no fixed endpoint for monitoring. Inherited retinal diseases are lifelong conditions, and ongoing evaluation means you receive new treatments as they become available and that changes in your retina are tracked over time.

What Should You Bring to Your First Visit?

Insurance card and photo ID
A referral from your ophthalmologist, optometrist, or primary care physician
Any prior retinal imaging, visual field tests, or ERG results from another provider
A family history of vision loss, hearing loss, or known genetic conditions, including any prior genetic test results
A written list of current symptoms, when they began, and how they have changed over time

Plan for a longer visit than a typical eye exam. Inherited retinal disease evaluations involve multiple tests, and your pupils will be dilated.

What Are Some Important California Inherited Retinal Disease Resources?

Patients and families in California can access reliable information on inherited retinal conditions through the following public sources.

The Medical Board of California allows you to verify the license status of any physician practicing in the state.
National Eye Institute provides a detailed overview of retinitis pigmentosa, including symptoms, diagnostic methods, current research, and links to clinical trials supported by federal funding.
MedlinePlus Genetics covers the genetic basis of retinitis pigmentosa, inheritance patterns, and the role of genetic testing in identifying specific mutations responsible for the condition.

These informational resources do not replace an in-person evaluation with a qualified retina physician.

Contact Retina Associates of Orange County

An inherited retinal disease diagnosis affects more than one person. It carries implications for siblings, children, and future generations. Genetic testing is the single most important step a patient can take, because it defines the specific condition, determines eligibility for gene therapy and clinical trials, and gives family members the information they need to make informed decisions about their own screening.

If you or a family member has been told you may have a genetic retinal condition, or if you are experiencing unexplained progressive vision loss, our retina specialists can evaluate you and coordinate the testing needed to reach a clear diagnosis. Contact us today to schedule an inherited retinal disease evaluation with a board-certified retina specialist in California.

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