Retinopathy associated with Alport syndrome [3 genes]

Alport syndrome is a hereditary disorder of the basement membrane that causes glomerulopathy that causes progressive renal failure, which can variably be associated with decreased hearing of neurosensory origin as well as different ocular manifestations. Maculopathy, mainly described in patients with X-linked Alport syndrome, is characterized by whitish or yellowish spots in the perimacular region.

This service is recommended when, during an ophthalmological examination, a characteristic image of the fundus of the eye is detected together with the other ocular, auditory, or mainly renal manifestations, a previously undiagnosed Alport syndrome was suspected.

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Retinopathy associated with Alport syndrome

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Consentimiento*
Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-201906489

Updated (dd/mm/yy): 14/10/2025

Retinopathy associated with Alport syndrome: View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of all Alport syndrome genes.

  • COL4A3
  • COL4A4
  • COL4A5

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

Maculopathy associated with Alport syndrome.

References

  1. Kashtan CE. Alport Syndrome. 2001 Aug 28 [Updated 2019 Feb 21]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1207/

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