Central areolar choroidal dystrophy is a maculopathy that causes an area of atrophy of the retinal pigment epithelium and the choriocapillaris membrane in the center of the macula. It usually leads to a decrease in visual acuity, which occurs between the ages of 30 and 60.
Estimated at 1-9/100,000 newborns.
Service indicated to complete the diagnosis when the disease is suspected.
1) Download & fill out
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2) Sample collection
See sample types in the guidelines
3) Pack the sample
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4) Send the sample & the request
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5) Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT): 25 days
Ref. S-202313108
Updated (dd/mm/yy): 14/10/2025
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all high-evidence genes related to central areolar choroidal dystrophy based on current literature.
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.
Central areolar choroidal dystrophy
