Macular retinal dystrophies [19 genes]

Macular retinal dystrophies are a heterogeneous group of disorders in which macular involvement of the retina predominates, causing various forms of deposits, pigmentary changes, and atrophic lesions in the macula. Among them, Stargardt disease is the most common, followed by bestrophinopathies (macular retinal dystrophies associated with the BEST1 gene).

The list of genes included in the macular retinal dystrophies panel includes the study of the following pathologies:

  • Vitelliform macular dystrophy.
  • Stargardt disease.
  • Pattern dystrophies of the pigment epithelium.
  • Doyne’s honeycomb retinal degeneration.
  • Central areolar choroidal dystrophy.
  • Sorsby dystrophy of the fundus.
  • Very rare entities with predominantly macular involvement of the retina:  Ectodermal dysplasia, ectrodactyly and macular dystrophy; congenital hypotrichosis with juvenile macular dystrophy; CLEC3B-associated macular dystrophy; macular dystrophy with bilateral macular telangiectasia; macular dystrophy with central cone involvement; methylmalonic aciduria and homocystinuria, cblC type; PROM1-associated macular dystrophy; occult macular dystrophy; optic disc anomalies with retinal and/or macular dystrophy.

Recommended service in the presence of macular dystrophy but it is not possible to categorize the disease sufficiently to conclude a specific diagnostic suspicion. This service allows a diagnosis to be reached and thus helps to convey prognostic information to patients by knowing the exact diagnosis.

This panel is a useful tool to complete the diagnostic categorization of macular dystrophy when it has not been possible to do so through clinical history and examination.

Service indicated when the patient’s certainty of having retinal macular dystrophy is high but with diagnostic doubts regarding the specific entity suffered.

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Macular retinal dystrophies

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Technique: Exome

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Ref. S-202313104

Macular retinal dystrophies: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes with high, moderate, and low evidence related to macular dystrophies based on current literature.

  • ABCA4
  • BEST1
  • CDH3
  • CLEC3B
  • CTNNA1
  • CYP2U1
  • EFEMP1
  • ELOVL4
  • GUCY2D
  • IMPG1
  • IMPG2
  • MAPKAPK3
  • MFSD8
  • MMACHC
  • PROM1
  • PRPH2
  • RP1L1
  • SIX6
  • TIMP3

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

  • Vitelliform macular dystrophy.
  • Stargardt disease.
  • Pattern dystrophies of the pigment epithelium.
  • Doyne’s honeycomb retinal degeneration.
  • Central areolar choroidal dystrophy.
  • Sorsby dystrophy of the fundus.
  • Very rare entities with predominantly macular involvement of the retina:  Ectodermal dysplasia, ectrodactyly and macular dystrophy; congenital hypotrichosis with juvenile macular dystrophy; CLEC3B-associated macular dystrophy; macular dystrophy with bilateral macular telangiectasia; macular dystrophy with central cone involvement; methylmalonic aciduria and homocystinuria, cblC type; PROM1-associated macular dystrophy; occult macular dystrophy; optic disc anomalies with retinal and/or macular dystrophy.