Question: What is (are) Stargardt disease ?
Answer: Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time. It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. There is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence.
Source: GARD

Question: What are the symptoms of Stargardt disease ?
Answer: What are the signs and symptoms of Stargardt disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bull's eye maculopathy 15/15 Autosomal recessive inheritance - Macular degeneration - Retinitis pigmentosa inversa - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: Is Stargardt disease inherited ?
Answer: How is Stargardt disease inherited? Stargardt disease is most commonly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier A person with autosomal recessive Stargardt disease will always pass one mutated copy of the gene to each of his/her children. In other words, each of his/her children will at least be a carrier. A child of an affected person can be affected if the other parent is also affected or is a carrier. In rare cases, Stargardt disease may be inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition. An affected person typically inherits the mutated gene from an affected parent. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
Source: GARD

Question: How to diagnose Stargardt disease ?
Answer: Is genetic testing available for Stargardt disease? Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Stargardt disease. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about genetic testing for this condition should speak with their ophthalmologist or a genetics professional.
Source: GARD