Benign familial fleck retina [1 gene]

Benign familial speckled retina is an autosomal recessive disease associated with a distinctive retinal appearance and without apparent visual or electrophysiological deficits. Affected individuals are asymptomatic, but fundus examination reveals a mottled pattern of diffuse, yellowish-white lesions that extend to the periphery of the retina, but do not involve the foveal region.

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Benign familial fleck retina

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Technique: Exome

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Ref. S-202313101

Benign familial fleck retina: View panel
  • PLA2G5

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

Benign familial fleck retina