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Stargardt disease, also known as Stargardt 1 (STGD1), is described in the packet as a form of retinal dystrophy that is usually characterized by progressive loss of central vision, irregular yellow-white fundus flecks in and around the macula, and a so-called beaten bronze atrophic central macular lesion. It is also listed as Stargardt macular dystrophy and fundus flavimaculatus. Orphanet-notation prevalence is listed in the packet as 1-5 in 10,000, meaning an estimated 1 to 5 people per 10,000 in the population.
Clinical Presentation
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
The packet contains no phenotype records, so symptom frequencies and age of onset are unknown in this packet. The definition describes progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks and an atrophic central macular lesion with a beaten bronze appearance. No GeneReviews entry is present.
Genetic Landscape
Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.
The packet lists no known genes and its inheritance field is empty, so the genetic basis and inheritance pattern are unknown in this packet; this does not indicate that none exist. The packet's ClinVar summary records 38 pathogenic and 24 likely pathogenic variants.
Diagnosis
Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.
The packet contains no diagnostic methods, GeneReviews diagnosis section, or newborn screening information for this condition, so diagnostic approaches are unknown in this packet. The definition's description of the fundus findings (flecks and a beaten bronze macular lesion) is the only diagnostic-relevant characterization present.
Treatment
Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.
No foundational therapy or GeneReviews management information is present, and no approved treatments are certified in the packet, so FDA-approved treatment status is unknown here. The orphan drug records list eight products with the status DESIGNATED (including echothiophate iodide, soraprazan, and gene-vector and RBP4-inhibitor entries) and one, MA09-hRPE cells, with the status WITHDRAWN. An orphan designation is not an approval. Patient assistance programs may exist for some therapies; specifics are not certified in this packet.
Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.
The packet contains no natural history field, so a certified prognosis is not available here. The definition describes the loss of central vision as progressive; rate of progression and long-term outcomes are not certified in this packet.
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
The packet records 33 active ClinicalTrials.gov studies for Stargardt disease, with detail records for ten, of which two are summarized here. NCT06467344 is a Phase 1 study of ACDN-01 in Stargardt retinopathy, sponsored by Ascidian Therapeutics and recruiting, starting 2024-06-11. NCT07419334 is a Phase 3 study of ALK-001 on progression of Stargardt disease, sponsored by Alkeus Pharmaceuticals and recruiting, starting 2026-06-03. The packet's trial summary indicates gene therapy trials are present among the interventions, and its research landscape digest classifies 244 publications, dominated by basic science and preclinical work.
Data assembled from 5 of 12 sources · Last updated Nov 3, 2026, 5:29 AM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
BERKELEY, Calif.--(BUSINESS WIRE)--Ray ... therapies for those living with severe retinal degenerations, today announced it has been awarded an $8 million grant from the California Institute for Regenerative Medicine (CIRM) to advance RTx-021 for the treatment of Stargardt disease. The funding will support the ongoing Phase 1/2 clinical trial and manufacturing ... BERKELEY, Calif.--(BUSINESS WIRE)--Ray Therapeutics (RayTx), an industry-leading clinical-stage biopharmaceutical company pioneering differentiated vision restoration therapies for those living with severe retinal degenerations, today announced it has been awarded an $8 million grant from the California Institute for Regenerative Medicine (CIRM) to advance RTx-021 for the treatment of Stargardt disease. The funding will support the ongoing Phase 1/2 clinical trial and manufacturing activities to prepare the program for late-stage development. Stargardt disease is the most common form of juvenile macular degeneration, and about 40,000 people in the United States are living with the condition. It is caused by mutations that lead to photoreceptor loss over time, resulting in progressive loss of central vision. ... RayTx is a clinical-stage biopharmaceutical company advancing optogenetic gene therapies to restore vision in people with retinal degenerative diseases. The California Institute for Regenerative Medicine (CIRM) is a state agency created by California voters to accelerate stem cell and gene therapies for people with unmet medical needs. Since 2004, Californians have entrusted CIRM with $8.5 billion to accelerate promising discoveries through clinical trials, train a regenerative medicine workforce, strengthen the state’s biotechnology economy, and expand access to transformative therapies. It is clear that Stargardt’s patients need life-changing treatments that can help them maintain their independence and navigate daily life with confidence,” said Paul Webb, PhD, Senior Science Officer for Clinical Development of CIRM. “CIRM’s mission is to help bring promising science to the patients who need it. We’re hopeful that this approach will advance a potential vision-restoring therapy for people in California and around the world who currently have no approved treatment options.”
Tarsus Pharmaceuticals has acquired Alkeus for up to $800 million, gaining access to a promising therapy for Stargardt disease currently in late-stage testing. This acquisition highlights the potential value of innovative treatments in the rare eye disease space.
Stargardt Disease. American Academy of Ophthalmology. Macula. American Academy of Ophthalmology. Vision Loss, Central. MedlinePlus. Stargardt macular degeneration. National Cancer Institute. Choroid. MedlinePlus. Choroideremia. National Organization of Rare Disorders. Choroideremia. U.S. Food & Drug Administration. FDA approves novel gene therapy to treat patients with a rare form of inherited ... Stargardt Disease. American Academy of Ophthalmology. Macula. American Academy of Ophthalmology. Vision Loss, Central. MedlinePlus. Stargardt macular degeneration. National Cancer Institute. Choroid. MedlinePlus. Choroideremia. National Organization of Rare Disorders. Choroideremia. U.S. Food & Drug Administration. FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss. This gene is associated with several IRDs, including retinitis pigmentosa. Other therapies in development include medications that prevent the death of cells in the eyes and prosthetics that are implanted into the eye to restore vision. Sources: PreventBlindness.org. Eye Diseases & Con... + 13 · PreventBlindness.org. Eye Diseases & Conditions: Inherited Retinal Diseases. Why family medical history matters to the health of your eyes.How your genetics can affect your vision ... Get a look at the healthcare providers you may work with if you are living with an inherited retinal disease (IRD).The specialists and therapies that treat IRDs Keep in mind that this is a simplified explanation of this condition—there are more than 60 different genes that can be involved in the development of RP, there are numerous subtypes of RP, the disease can follow different patterns, and it can occur as a result of multiple other genetic disorders. It’s estimated that RP affects one out of every 3,000 or 4,000 people. This inherited retinal disease is the most common form of juvenile macular degeneration and symptoms typically begin in late childhood or young adulthood.
City has secured nearly $100 million to advance its next-generation RNAi drugs, including a clotting disorder treatment currently in early human testing. An experimental therapy for Stargardt disease is also on the horizon.
A new study identifies key factors influencing vision-related quality of life in patients with recessive Stargardt disease. The findings could inform future therapeutic strategies and patient support initiatives.
