Stargardt disease [3 genes]

Stargardt disease is a genetic eye disorder that causes progressive vision loss. It mainly affects the macula, where lipofuscin accumulates abnormally. People with Stargardt disease have night vision problems, and some have color vision problems. It is usually caused by genetic changes in the ABCA4 gene and is inherited in an autosomal recessive manner. In rare cases, it can be caused by genetic changes in other genes and be inherited in an autosomal dominant manner. The estimated prevalence of this entity is 1/8,000 – 1/10,000 (ORPHA:827).

1/8,000 – 1/10,000 newborns (ORPHA:827)

This service is recommended when there is a clinical suspicion of Stargardt disease after evaluating the patient from an ophthalmological approach. If there are diagnostic doubts, it is recommended to request a more extensive sequencing service, either the macular retinal dystrophies panel, the generalized retinal dystrophies panel, or the global panel, retinal dystrophies and differential diagnosis to increase the probability of reaching a genetic diagnosis of the disease.

Indicated when there is a high clinical suspicion of Stargardt disease.

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Stargardt disease

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Technique: Exome

Turnaround time (TAT):

Ref. S-202211687

Stargardt disease: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of the 3 genes with high evidence related to Stargardt disease based on current literature.

  • ABCA4
  • ELOVL4
  • PROM1

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Stargardt disease

References

  1. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {248200}: {07/10/2023}: . World Wide Web URL: https://omim.org/.