About Retinal Dystrophies
Inherited or genetic diseases are those that result from abnormalities in our DNA. These abnormalities in the DNA may be inherited from parents or be randomly acquired. When DNA is defective, it may be unable to produce important proteins that are necessary for proper functioning, or it may produce abnormal substances that cause more harm than good.
Inherited retinal dystrophy is the term used to describe or refer to a wide variety of conditions that affect different parts of the retina due to a genetic defect. Retina Consultants of Houston specializes in diagnosing and evaluating inherited and genetic retinal diseases.
Types of Retinal Diseases
There are several genetic defects that give rise to a wide range of retinal diseases – some of which we are only beginning to understand and others that we have not yet discovered. The following is a small list of some inherited or genetic retinal diseases.
• Macular Degeneration
• Retinitis Pigmentosa (several types) — This is the most common inherited retinal disorder and affects the photoreceptor (light-sensitive) cells in the retina, causing some of them to fade and eventually die.
• Stargardt’s Disease
• Fundus Flavimaculatus
• Leber’s Congenital Amaurosis
• Doyne Honeycomb Dystrophy
• Bardet Biedl Syndrome
• Stickler Disease
• Wagner Disease
• North Carolina Macular Dystrophy
• Vitelliform Macular Dystrophy
• Best Dystrophy
• Pattern Dystrophies
• Familial Fleck Retina
• Gyrate Atrophy
• Congenital Stationary Night Blindness
• Cone Disease
• Cone-Rod disease
• Congenital Stationary Night Blindness
• Dominant Drusen
• Refsum Disease
• Batten Disease
Most inherited and genetic retinal diseases (inherited retinal dystrophies) affect the macula (macular dystrophies) and the cones found within it, resulting in gradual loss of colored vision, visual acuity, and contrast sensitivity, as well as central visual field defects. In addition, other mutations that affect the retinal rods are characterized by vision issues at night and loss of peripheral vision (also called “tunnel vision”).
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"Five Stars - My husband and I have been Dr Kim’s patient for over 17 years. She is a compassionate, knowledgeable, detailed oriented doctor with excellent bedside manner. She had saved my husband’s vision from macular degeneration. We all love her and will be her faithful patients forever."- Anonymous / Vitals / Jul 19, 2018
"For the last three years I've been treated by the Retina Consultants of Houston at the Sugar Land location and have been extremely satisfied with the very professional, courteous staff and Dr. Chen. When at the office in the waiting rooms I've spoken with numerous other patients who have all had the same comments of satisfaction. My observations have always been that the staff and doctors work hard to keep patients waiting time at a minimum, while maintaining the excellent quality of care. I would not go any where else."- S.R. / Google / Jun 22, 2018
"Dr. Brown is an excellent surgeon. If you want the best, you have to make a sacrifice. I have been a patient of Dr. Brown, for decades, and I would recommend him to anyone. I would be completely blind if not for Dr. Brown, and God, the Most Holy of Holy."- M.S. / Healthgrades / May 16, 2018
"My left retina had tear in it and I had no clue of what was happening, but was referred to the Retina Consultants of Houston and was blessed with meeting Dr. Wykoff. He repaired my eye while explaining everything in detail and helping me to feel comfortable. Less than a year later my right eye did the same thing but a little worse. Nowadays, I will only let Dr. Wykoff work on me. I am seeing great today and at 58 have zero floaters, etc. This Doctor is the best."- C.P. / Google / Mar 16, 2018
A complete family and medical history, as well as a comprehensive dilated eye exam, are important first steps in diagnosing inherited or genetic retinal diseases. However, some of these conditions may present with a normal retinal exam despite symptoms. Hence, we may conduct further testing in our office to help make a correct diagnosis.
Depending on the disease suspected, testing may include optical coherence tomography (OCT), fundus photography, fundus autofluorescence, indocyanine green angiography (ICG), fluorescein angiography (FA), visual field testing, color vision testing, dark adaptometry, and an electroretinogram (ERG), or electroculogram (EOG). You may learn more about these particular tests under our diagnostic testing section.
In addition, genetic testing has come a long way in the past several years, and many of the defective genes that give rise to inherited and genetic retinal conditions have been identified. Your Retina Consultants of Houston physician may suggest that you undergo genetic testing to correctly identify the responsible gene and possibly provide some insight into the hereditary nature of the condition. Since many of the inherited retinal diseases may also involve other areas of the body, it is important for your primary care doctor to also inquire about and investigate these other potential conditions.
Treatment And Prognosis
First and foremost, your retina specialist will make sure that you do not have an underlying disease that can be treated (examples are Refsum disease or Bassen-Kornzweig syndrome). Although most patients with diseases such as vitelliform dystrophy and flecked retina may continue to have good vision throughout life, patients with diseases like Stargardt’s or retinitis pigmentosa may develop extremely poor vision.
With the exception of wet macular degeneration, which has treatments that can be successful if it is caught early, the vast majority of inherited and genetic retinal diseases, unfortunately, have no treatment at the present time. Low vision specialists may be consulted to maximize vision potential with glasses or magnifiers.
Patients are also monitored regularly to make sure they do not develop any additional complications that may result from their retinal disease. For example, patients with Stargardt’s disease, Best’s disease, or pattern dystrophies are evaluated for choroidal neovascularization (the growth of abnormal blood vessels under the retina), and patients with retinitis pigmentosa are monitored for the development of cataracts and macular edema. These complications may be managed with injections, eye drops, or cataract surgery in the case of visually significant cataracts.
Plan Your Procedure
It is understandably frustrating for patients to be told that currently there is no treatment or cure for their eye disease. However, the future holds great promise in the area of inherited and genetic retinal disease. There are several trials underway utilizing gene therapy as a potential treatment for hereditary forms of retinal disease. Gene therapy essentially works by replacing or compensating for the defective DNA that caused the disease in the first place. Gene therapy trials for Leber’s congenital amaurosis (LCA) in particular have already shown some remarkable results.
Retina Consultants of Houston’s board-certified, sub-specialized retina physicians are on the forefront of research and are leaders in clinical trials. We strive to offer patients the safest, most up-to-date, and most effective therapies as they become available. Please contact us to inquire about participation in any future clinical trials on inherited and genetic retinal conditions.