How Inherited Retinal Diseases Are Handled By Pediatric Ophthalmologists

How Inherited Retinal Diseases Are Handled By Pediatric Ophthalmologists

October 05, 2021

Ophthalmology News - “The word ophthalmos, “οφθαλμος”  from which the term ophthalmology is derived, appears often in Homer’s epic poetry: “Athena aimed the arrow towards the nose, near the ophthalmos [eye] and pierced the white teeth” [Il 5.291].”

                                                       Οφθαλμός       

The retina is a light-sensitive layer of tissue lining the back of the eye. Healthy development and function of the retina is critical for normal vision. Ophthalmology News

Inherited retinal diseases—or IRDs—are a group of diseases that can cause severe vision loss or even blindness. Each IRD is caused by at least one gene that is not working as it should. Ophthalmic News

IRDs can affect individuals of all ages, can progress at different rates, and are rare. However, many are degenerative, which means that the symptoms of the disease will get worse over time.

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An IRD is a genetic disorder– a change, or variant, in one or more genes that contribute to proper retinal function. The genetic disorder affects the gene’s ability to do its job properly. Ophthalmology News

If there is a mistake in a gene, a protein might not be made correctly or at all, and cells in the retina can degenerate and cause vision loss. Ophthalmology News

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There are more than 260 different genes known to cause IRDs. Some gene mutations that cause IRDs are more severe than others. Ophthalmology News

IRDs are diseases that result from variants in our DNA. DNA is the hereditary information provided to a child from its mother and father. Variants in the DNA may be inherited from both parents, one parent, or can occur spontaneously. Ophthalmology News

There are three types of inheritance patterns that can lead to an IRD, including- autosomal dominant, autosomal recessive, and X-linked. Ophthalmic News

It is important to understand the pattern of inheritance to help doctors determine the type of IRD a person may have, and how it might be treated. Ophthalmology News

  • Autosomal dominant: A pattern of inheritance in which an affected person receives one copy of a variant dominant gene from one parent and one normal gene from the other parent. The variant dominant gene causes the IRD to occur. Ophthalmology News

  • Autosomal recessive: A pattern of inheritance in which the affected individual receives two recessive variant genesone from each parent. The parents are carriers who have only one normal copy of the gene and one variant copy of the gene. Ophthalmology News

The parents do not exhibit the trait because the variant gene is recessive to its normal counterpart gene. If both parents are carriers, there is a 25% chance of a child inheriting both variant genes and developing an IRD. Ophthalmology News

There is a 50% chance of a child inheriting only one variant gene and being a carrier, like their parents. Finally, there is a 25% chance of the child inheriting both normal genes and will not have an IRD or be a carrier. Ophthalmic News

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  • X-linked disorders: X-linked inheritance means that the genetic variant is located on the X chromosome. These variants can cause X-linked disorders. X-linked variants do not cause the same problems in males and females. Ophthalmology News     Ophthalmic News

X-linked inheritance patterns differ depending on the type of inheritance and variant genes on the X chromosome which can be recessive or dominant. Ophthalmic News      Ophthalmology News.

X-linked recessive conditions are always passed on from mother to child, with male children being affected with the condition and female children becoming carriers. Ophthalmology News

Mitochondrial inheritance patterns are always passed on from mother to child and can emerge at almost any age. Some mitochondrial genetic disorders can affect one organ, but many of these disorders can affect multiple organs, including the eyes. Ophthalmic News

Inherited retinal diseases (IRDs) comprise a diverse group of clinical phenotypes that result from mutations in a variety of genes. Ophthalmic News      Ophthalmology News.

Although it has been known for some time that a given IRD can arise from alterations in 1 or more genes, there has been little impetus to pursue genetic testing to identify a patient’s specific muta-tion because information gleaned from these tests often did not change clinical practice.

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With the exception of retinal dystrophy due to mutations in the RPE65 gene, there are no approved effective therapies for IRDs.  Ophthalmology News

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Eye care professionals have typically monitored patients with these diseases for progressive vision loss without being able to provide treatment beyond nutritional supplements, and these have not demonstrated significant benefit with respect to disease progression or long-term vision outcomes.

In the absence of effective therapy, many patients lose hope that they can prevent further vision loss and forgo their annual eye health exams. Ophthalmology News                              Οφθαλμολογικά Νέα

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Fortunately, the landscape of IRD therapies is evolving. In 2017, the FDA approved voretigene neparvovec-rzyl (Luxturna; Spark Therapeutics), a gene therapy for the treatment of biallelic RPE65 mutation–associated retinal dystrophy.

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Voretigene neparvovec-rzyl utilizes an engineered adeno-associated virus as a vector for delivering a functional copy of the RPE65 gene to retinal cells, thereby restoring retinal cell function.

This approval validated the use of gene therapy in the treatment of IRDs, creating new hope for patients across a variety of degenerative diseases, including X-linked retinitis pigmentosa (XLRP), choroideremia, achroma-topsia, Stargardt disease, and other forms of retinitis pigmentosa due to mutations in the USH2A, RHO, or CEP290 gene, the latter of which causes Leber congenital amaurosis.

Although these conditions can have variable age of onset, with the exception of congenital achromatopsia, which is present from birth, many can present in the pediatric age group.

With at least 24 IRD clinical trials ongoing in the United States, and additional studies of stem cell therapy in several IRD indications under way, hope is on the horizon for many patients with IRDs who were previously considered untreatable. Ophthalmology News

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It is gratifying to have multiple IRD therapies moving toward approval, but realizing the potential of these therapies requires that eye care professionals, especially those who see pediatric patients, reorient themselves within an evolving landscape.  Ophthalmology News

A key first step in developing a new perspective and approach to clinical practice is recognizing the importance of genetic testing in empowering patients to understand the fundamental cause of their disease and identify opportunities for participating in clinical trials.  Ophthalmology News

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Although access to IRD genetic testing has historically been limited because of lack of reimbursement for a test that had no impact on clinical practice, programs currently provide free testing that can be performed by the patient at home or by a physician or eye health professional during a regular office visit. Ophthalmology News

The My Retina Tracker Program developed by the Foundation Fighting Blindness in partnership with Blue-print Genetics and InformedDNA and supported by several pharmaceutical companies, including AGTC, allows any provider caring for a patient with an IRD to offer that patient genetic testing.  Ophthalmology News

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Physicians who enroll patients in the program receive free testing kits in the mail and collect a genetic sample from the patient through a simple blood draw or saliva sample, the latter of which patients can per-form themselves at home.  Ophthalmology News

For pediatric patients with IRDs, the ability to perform saliva testing in particular is both easy and efficient, removing any fear of needles often associated with other lab tests.  Ophthalmology News

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The physician obtains informed consent from the patient or parent and completes a requisition form for the genetic test, and the forms and sample are returned to Blueprint Genetics in a prepaid mailing envelope. Ophthalmic News

The test currently evaluates 285 genes associated with IRD, and now also includes mitochondrial DNA testing. Genetic test results are typically returned in 3 to 4 weeks. Ophthalmology News

The program also offers free genetic counseling to patients through InformedDNA, which provides telephone-based genetic counselors who contact the patient to review and discuss the test results.

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The ID Your IRD program, which is offered through the genetic testing company Invitae and sponsored by Spark Therapeutics, offers a similar program that tests 293 IRD-associated genes, but does not include the RPGR gene associated with XLRP.   Οφθαλμολογικά Νέα

Given the progressive nature of many IRDs, gene therapy may pro-vide optimal benefit when adminis-tered early in the course of disease when fewer retinal cells have already been damaged or lost. Οφθαλμολογικά Νέα

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Genetic test-ing in the pediatric population is now more important than ever, providing a more accurate diagnosis on a genetic level and offering potential opportuni-ties for therapies at an earlier stage of disease.  Ophthalmic News

Recognizing the importance of early gene therapy in IRD, several ongoing clinical trials are enrolling pediatric patients.

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As an example, AGTC is enrolling patients as young as 8 years in its ongoing phase 1/2 clinical trial in patients with XLRP and is enrolling patients between 4 and 8 years in its ongoing phase 1/2 clinical trials in patients with achromatop-sia due to mutations in the CNGA3 or CNGB3 gene. Ophthalmology News

These trials and the potential near-term inclusion of pedi-atric patients in other IRD gene therapy trials underscore the importance of referring pediatric patients with IRDs for genetic testing.

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Eye care pro-fessionals who see pediatric patients have a critical role to play in educating these patients and their parents about the availability and potential benefits of IRD genetic testing. Additionally, physicians who refer patients for testing should ensure that appropriate genetic counseling is available. Ophthalmology News

Several patients in my practice have been treated with voretigene nepar-vovecrzyl and have experienced improvements in visual function, allowing even some to return to nor-mal childhood activities.

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I am opti-mistic that additional gene therapies will provide similar benefit to patients with other IRDs. Eye health profes-sionals can help realize the full potential of these therapies by offering and encouraging patients to pursue genetic testing as soon as an IRD or other rare disease is suspected.

Confirmation of an IRD with genetic testing can help patients and physicians make informed decisions about clinical trial opportunities today and future trial and treatment options as additional therapies enter the clinic and the market. Ophthalmology News

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Depending on the IRD, the sensitivity of genetic testing can range from around 60% to 90%. Although a negative test does not rule out a genetic dystrophy, it may in some circumstances lead to testing for other causes.   OphthalmologyIllumination Through All Seeing Eye Of The Great Architect of The Universe…

The availability of genetic counsel-ing through the aforementioned testing programs allows for an accu-rate interpretation of results along with any additional recommenda-tions. Ophthalmology News

According to an old advertising slogan, “an educated consumer is our best customer,” but in the evolv-ing landscape of IRD gene therapy, an educated physician will be the best care provider.

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