Hereditary vitreoretinopathies [27 genes]

Service that includes the genes of the main vitreoretinopathies of a genetic cause, grouping both those that are non-syndromic and those that associate extraocular alterations.

The diseases contemplated in this panel are the following:

  • Familial exudative vitreoretinopathy.
  • Autosomal dominant vitreoretinochoroidopathy.
  • Autosomal dominant neovascular inflammatory vitreoretinopathy.
  • Snowflake vitreoretinal degeneration.
  • S-cone enlargement syndrome and Goldmann-Favre syndrome.
  • X-linked juvenile retinoschisis.
  • Stickler’s disease.
  • Kniest dysplasia.
  • Wagner syndrome.

Unknown

Recommended service in case of suspicion of hereditary vitreoretinopathy (whether it appears isolated or not in the patient), but it is not possible to complete the definitive diagnosis based on the phenotypic manifestations.

Well-founded suspicion of hereditary vitreoretinopathy without the possibility of reaching a clinical diagnosis.

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Hereditary vitreoretinopathies

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Technique: Exome

Turnaround time (TAT):

Ref. S-202313110

Hereditary vitreoretinopathies: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes related to genetic diseases that commonly cause vitreoretinopathies based on current literature.

  • ARHGAP31
  • BEST1
  • BMP4
  • CAPN5
  • COL11A1
  • COL11A2
  • COL2A1
  • COL9A1
  • COL9A2
  • COL9A3
  • CTNNA1
  • CTNNB1
  • DLG1
  • FZD4
  • JAG1
  • KCNJ13
  • KIF11
  • LOXL3
  • LRP5
  • NDP
  • NR2E3
  • RCBTB1
  • RS1
  • TGFBR2
  • TSPAN12
  • VCAN
  • ZNF408

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

  • Familial exudative vitreoretinopathy.
  • Autosomal dominant vitreoretinochoroidopathy.
  • Autosomal dominant neovascular inflammatory vitreoretinopathy.
  • Snowflake vitreoretinal degeneration.
  • S-cone enlargement syndrome and Goldmann-Favre syndrome.
  • X-linked juvenile retinoschisis.
  • Stickler’s disease.
  • Kniest dysplasia.
  • Wagner syndrome.