Medical Services
OCULAR GENETICS CENTER
Comprehensive and accessible care for individuals with inherited conditions.
Medical Services
Comprehensive and accessible care for individuals with inherited conditions.
Our team of genetics experts provides a variety of services for those with known or suspected genetic eye diseases, including ophthalmologic exams, medical genetics consultations, and ocular genetic counseling.
Genetic testing can help determine if you are at risk for inherited eye conditions like macular degeneration, macular dystrophy, glaucoma, and many more.
We offer genetic counseling appointments via in person, telemedicine, or over the phone for your convenience.
The retina is a part of the eye that helps our brain turn light into the picture that we see. Inherited retinal diseases (IRDs) are a group of conditions caused by errors in our genes. This group of conditions affects more than 5 million people in the world. There are over 300 genes known to cause IRDs.
IRDs can cause vision loss that gets worse over time (progressive). The onset can range from birth to adulthood. These conditions share features with one another, making an accurate diagnosis hard. A diagnosis may require multiple tests. These tests may include taking images of the eye, an eye exam, and genetic testing. An accurate diagnosis can help make sure you get the right management.
1. Retinitis Pigmentosa
2. ABCA4-related Stargardt Disease
3. Usher Syndrome
4. Bardet Biedl Syndrome
5. RPGR-related Disease
Common Genes Associated
RHO, RP1, CERKL, EYS, RPGR, USH2A
Inheritance Pattern
Autosomal dominant, Autosomal recessive, X-linked
Onset
Variable; may be dependent on genetic cause
Symptoms
Retinitis Pigmentosa (RP) is the most common IRD. Symptoms can include tunnel vision, difficulty seeing in the dark, sensitivity to light, loss of sight, and problems with color vision. There are some forms that affect other body systems (syndromic).
About 20-30% of people with RP have a syndromic form. Common syndromic forms of RP are Usher syndrome and Bardet Biedl syndrome.
Management
• Ophthalmology and retinal evaluation every year or as indicated by provider.
• Genetic testing to determine the specific gene that is causing an individual's symptoms. This allows for more knowledge, personalized management, and eligibility into current or future clinical trials.
Genes Associated
ABCA4
Inheritance Pattern
Autosomal recessive
Onset
Variable: childhood-adulthood
Symptoms
Stargardt disease can cause loss of sight (vision loss) that gets worse over time. When and how quickly vision loss occurs can vary from person to person. The symptoms are similar to other genetic conditions, so genetic testing can help confirm the cause.
Management
Ophthalmology and retinal exam every year or as indicated by provider.
Genes Associated
RPGR
Inheritance Pattern
X-linked
Onset
• Retinitis Pigmentosa: childhood
• Other retinal diseases: fourth decade of life
Symptoms
Vision loss is variable between people.
Affected males will usually first show symptoms of difficulty seeing in the dark or peripheral vision loss.
Female carriers of RPGR may have vision loss, however it is not expected to be as severe as males with the condition.
Genetic errors in RPGR can also lead to other types of inherited retinal diseases. These symptoms may start in adulthood, around the fourth decade. Initial symptoms may be problems with color vision, light sensitivity, and worsening eye prescriptions.
Management
Annual ophthalmology and retinal exam
Genes Associated
BBS1, BBS10, BBS2, BBS4, BBS5,BBS7, BBS9, TTC8 (BBS8), ARL6 (BBS3), BBS12, MKKS (BBS6), CFAP418 (BBS21), CEP164, BBIP1 (BBS18), CEP290 (BBS14), IFT27 (BBS19), IFT74 (BBS20), IFT172 (BBS20), LZTFL1 (BBS17), MKS1 (BBS13), SCAPER, SCLT1, SDCCAG8 (BBS16), TRIM32 (BBS11), WDPCP (BBS15)
Inheritance Pattern
Autosomal recessive
Onset
• Retinal disease: within first 10 years of life, progressing into legal blindness by the 20s or 30s
• Obesity: childhood
• Kidney Failure: childhood-adulthood
Symptoms
Features can include retinal disease, obesity, kidney and urogenital defects, extra fingers or toes, and/or variable intellectual disability.
Having trouble seeing at night is one of the first symptoms of retinal disease in these patients. Kidney failure is a major cause of illness and death among people. For those with intellectual disability, it can be mild to severe.
Management
• Annual Ophthalmology and retinal exam
• Annual Endocrinology evaluation
• Annual ultrasound of the liver and kidneys
• Initial ultrasound of the heart and abdomen
• Monitor for respiratory distress or gastrointestinal problems
• Developmental assessment with developmental pediatrician
There are three clinical types of Usher syndrome.
Genes Associated
MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2
Inheritance Pattern
Autosomal recessive
Onset
Hearing Loss: at birth
Retinitis Pigmentosa: early infancy-childhood
Symptoms
Clinical features include profound hearing loss at birth, balance issues, and early onset RP
Management
• Annual Hearing exam; individuals may benefit from hearing aids or cochlear implants
• Annual ophthalmology and retinal exam
• Balance rehabilitation if needed
Genes Associated
USH2A, ADGRV1, WHRN
Inheritance Pattern
Autosomal recessive
Onset
Hearing Loss: Ranges from birth-adulthood
Retinitis Pigmentosa: usually around the teenage years
Symptoms
Features include moderate-severe hearing loss, normal balance, and retinitis pigmentosa. Hearing loss is not expected to get worse over time with this type. It is important to note that not everyone with USH2A related RP has Usher syndrome. This gene also causes RP without hearing loss in some individuals.
Management
• Annual Hearing exam; individuals may benefit from hearing aids or cochlear implants
• Annual ophthalmology and retinal exam
• Balance rehabilitation if needed
Genes Associated
CLRN1, HARS1
Inheritance Pattern
Autosomal recessive
Onset
Hearing Loss: childhood
Retinitis Pigmentosa: usually around the teenage years
Symptoms
Features include loss of hearing and balance over time and retinitis pigmentosa.
Management
• Annual Hearing exam; individuals may benefit from hearing aids or cochlear implants
• Annual ophthalmology and retinal exam
• Balance rehabilitation if needed
There are many clinical trials for IRDs. These include medications and gene therapies. Most clinical trials for IRDs are specific to the genetic cause. This means that people who want to participate need to know what gene is causing their vision loss.
Luxturna was the first FDA-approved gene therapy in the United States. It is used for the treatment of Leber congenital amaurosis (LCA) type 2 due to errors in the gene, RPE65. Genetic testing is important to determine who may be eligible for this gene therapy.
Genetic testing can identify the underlying disease-causing genetic errors that cause IRDs. Identifying a genetic cause leads to better understanding of your condition, the ability to determine risk for family members, and possible opportunities for current or future clinical trials and potential treatments. With today’s technology, we can find a genetic diagnosis for the majority of people with IRDs.
• Individuals who have a suspected or known inherited retinal disease
• Individuals who have a family history of retinal disease
Genetic counseling is a way for people to find out how genetic conditions affect themselves and their family.
A genetic counselor helps people understand how genetics work, the features of a genetic condition, the chance to have a genetic condition, and how other family members may be affected.
Genetic counselors work with both you and your doctors to come up with the best genetic testing plan. They will walk you through your results and help coordinate any management based on those results.
The first appointment consists of:
• A brief medical history
• A detailed 3-generation family history
• Discussing your options for genetic testing as well as cost of testing
• Signing consent paperwork for the testing
• Collecting a sample for the testing either through a cheek swab or blood draw
Follow up appointments may consist of:
• Disclosure and education on genetic testing results
• Discussion of clinical trial eligibility
• Discussion of additional testing options for yourself or family members
The Ocular Genetics team of Wills Eye Hospital is home to some of the top specialists in the nation. Appointments can happen the same day as your appointment with a doctor at the main Wills Eye Hospital (840 Walnut Street) or at another time. Please contact us today to make an appointment.
Online Appointment Request: Click here
840 Walnut Street
Philadelphia, PA 19107
Monday through Friday, 8 a.m.–4:30 p.m.
For individuals with low vision, there are optometry specialists that help to provide assistive devices and provide rehabilitation.
The type of therapy and options for assistive devices are dependent on the cause of vision loss.
These specialists will work with you to decide what is the best course of rehab.
Click the link below for a list of low vision specialists in the Philadelphia/South Jersey region.
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