Genetic macular degeneration treatment research centers on identifying specific gene mutations and treating patients accordingly with medications or other interventions – whether that means slowing progression, restoring vision in wet AMD cases, or creating artificial vision through retinal prosthetic devices.

Best Disease

Macular degeneration is one of the leading causes of vision loss among adults over 50, as it involves degeneration of the central retinal area known as macular. A progressive condition, macular degeneration may progress to legal blindness for patients over 75. Although no cure exists at present, treatment options may help slow or stop further loss. These may include injections into eye sockets as well as vitamin and mineral supplements as well as promising genetic macular degeneration treatments that aim to significantly enhance visual quality in patients over time.

At present, most patients suffering from wet age-related macular degeneration require regular intraocular eye injections of ranibizumab (Lucentis) to prevent abnormal blood vessel growth that leaks fluid into the retina and leads to vision loss. According to a Johns Hopkins Medicine study of 106 wet AMD sufferers led by Johns Hopkins Medicine team researchers, some individuals may be able to discontinue receiving such injections without significant further vision loss.

Researchers identified PRKG2 as a gene linked to wet macular degeneration. The PRKG2 gene resides on the X chromosome and is passed from mother to son. According to study authors, genetic screening tests would allow physicians to predict who would develop wet macular degeneration by considering both family history and personal medical histories of each patient; such tests might also provide insight into future treatment approaches for wet macular degeneration.

Though the study’s results are encouraging, retina specialists remain reluctant to adopt this genetic testing method because of its expense and time commitment. Some physicians assert there aren’t enough board-certified medical geneticists available to handle an increase in patient volume; others contend most inherited retinal diseases can be diagnosed and managed using traditional techniques like electrophysiology. Yet experts anticipate as more gene therapies move through clinical trials, more retina specialists will begin screening their patients effectively for genetic conditions.

Leber Congenital Amaurosis (LCA)

Genetic mutations cause various eye diseases, including Leber congenital amaurosis (LCA). Gene therapy for LCA uses an Adeno-Associated Virus to deliver correct gene into retina, where it can restore vision for patients suffering from both LCA and certain forms of retinitis pigmentosa. Some participants who have already received this therapy can even navigate mazes under low to medium light levels with greater ease than before they began receiving therapy. The study is still ongoing but some participants who received the therapy have reported being able to navigate mazes successfully while under light conditions after beginning gene therapy treatment can overcome their vision impairment.

Researchers are exploring methods of treating genetic macular degeneration using stem cells. Once transformed into retinal cells, they can be transplanted back into the back of the eye in an effort to replace cells lost due to genetic mutations. A variety of studies are currently investigating stem cell-based treatments including one led by Spark Therapeutics that examines LCA.

This study will assess whether the AAV-mediated delivery of GUCY2D for treating Leber congenital amaurosis caused by biallelic mutations of RPE65 is safe and effective in comparison to placebo treatment, for participants aged at least 6 years. Participants in both countries must have been clinically diagnosed with LCA as evidenced by pathogenic variants in one or more genes including: GUCY2D, RPE65, SPATA7, RPGR1, AIPL1, CRB1, NMNAT1, CRB1, AIPL1 CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 NMNAT1 CRB1 NMNAT1 CRB1 CRB1 CRB1 CRB1 NMNAT1 CRB1 NMNAT1 CRB1 NMNAT1 CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 NMNAT1 CRX RDH12 TULP1, KCNJ13 IQCB1.

Gene therapy approaches such as Nanoscope are sending tiny pieces of molecular machinery directly into retinal cells in the back of the eye, where they transform them into retinal pigment epithelial cells that can see what’s going on around them. Although this technique holds promise, its full implementation in humans may take some time; in the meantime, researchers are exploring other methods of restoring vision through techniques such as using spared cells from degenerated retinas as spared retinas are harvested by researchers like Nanoscope.

ARMS2

Age-related macular degeneration (AMD) is a progressive condition that causes vision loss over time. As the leading cause of blindness in America, AMD can lead to severe impairment and permanent vision loss if untreated. While AMD cannot be reversed, treatment can slow its progress by stabilizing and protecting retinal tissue deterioration. Wet and dry macular degeneration exist. Dry AMD occurs from accumulation of drusen under the retina. Progression may be slower compared with wet AMD; wet AMD develops when abnormal blood vessels leak fluid into macula causing it shrinkage causing it’s shrinkage leading to severe vision loss if untreated whereas wet AMD occurs when abnormal blood vessels expand and leak fluid into its central macula, eventually leading to severe vision loss.

Macular degeneration can be caused by both genetic and non-genetic influences, with genetic influences playing an especially strong role. One such risk factor is ARMS2 gene; others linked with macular degeneration include C2S, CFH and HTRA1 genes as well as lifestyle factors like smoking or low fat diets that increase one’s chances of macular degeneration.

Recent advances in genomics have opened the possibility of designing macular degeneration treatments tailored specifically to each patient’s DNA, however this technology must first be further refined before clinical applications can begin using it.

Researchers are working on creating a therapeutic approach that uses iPSC-derived retinal pigment epithelial cells to target disease mechanisms and restore retinal functions, offering hope in an ever-expanding epidemic of retinal diseases. Such therapy could potentially treat wet macular degeneration as well as other eye conditions; additionally, the groundbreaking gene editing technology CRISPR/Cas9 provides another promising avenue to treatment of eye conditions including macular degeneration. Additionally, genetic therapy using CRISPR/Cas9 offers exciting potential as it offers another promising avenue to treating various eye conditions as well as macular degeneration; even its promising therapeutic approaches provide hope that many different diseases including ophthalmology.

VEGF

Vascular endothelial growth factor (VEGF), a substance produced by blood vessels that promotes their growth and activity, is one of the primary drivers of wet age-related macular degeneration (AMD). Although no cure exists yet for AMD, medications that suppress VEGF may slow its progression and help improve vision temporarily in some patients; however, such drugs typically fail once levels of VEGF return to high levels and cause new blood vessel growth, leading to fluid accumulation causing blurred vision or further loss of central vision loss over time. Multiple agents inhibit its activity, including ranibizumab (a monoclonal antibody blocking its action) and bevacizumab (an anti-angiogenic medication with greater effectiveness).

These drugs are administered as eye injections. While highly effective, they require monthly therapy. Meanwhile, new oral treatments may provide longer-acting therapies or reduce side effects; brolucizumab and abicipar pegol are two such agents with smaller molecular sizes that enable them to reach retina at higher concentrations while other agents such as PDGF receptors block additional pathways leading to retina.

Studies have established an association between genetic background and response to intravitreal anti-VEGF agents among those suffering from neovascular age-related macular degeneration. Lower-risk genotypes for CFH, ARMS2, HTRA1 and VEGF-A were associated with improved visual outcomes and decreased injection frequency; higher-risk genotypes led to poorer results or an increase in injections.

Individualized pharmacogenetics may provide another approach for optimizing current therapies. With genotype-based approaches, physicians can determine if patients are at high risk for experiencing adverse reactions during anti-VEGF therapy and adjust dosage or frequency as necessary.

Cataract surgery significantly enhances near visual acuity for people suffering from neovascular age-related maculopathy who are receiving anti-VEGF therapy, according to recent research. Researchers also observed an increase in intraretinal fluid shortly post surgery with optical coherence tomography images showing similar thickness levels pre and post cataract surgery; however, more eyes had fluid accumulation post op.