Retinal pattern dystrophy [3 genes]

Pattern dystrophies of the retinal pigment epithelium are a heterogeneous group of macular disorders characterized by an abnormal accumulation of lipofuscin. These deposits are most striking in the macular area and depending on their distribution, images of various sizes and shapes originate in the fundus of the eye. There is an important interfamilial and intrafamilial variability, in some cases changes similar to those of retinitis pigmentosa are observed in association with pattern dystrophies.

Unknown

Requesting the Retinal pattern dystrophy service is recommended when there is clinical compatibility with pattern macular dystrophy.

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Retinal pattern dystrophy

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202313106

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

Retinal pattern dystrophy: View panel

Virtual panel based on whole exome sequencing, aimed at simultaneous analysis of genes related to patterned hereditary dystrophies based on current literature.

  • CTNNA1
  • MAPKAPK3
  • PRPH2

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

Retinal pattern dystrophy

References

  1. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {169150}: {09/12/2016}: . World Wide Web URL: https://omim.org/.

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