Atypical retinitis pigmentosa [79 genes]

The term atypical retinitis pigmentosa refers to a heterogeneous group of disorders that, whether syndromic or not, are characterized globally by causing a generalized condition of the pigment epithelium with similarities to that caused by the classic form of non-syndromic retinitis pigmentosa.

The diseases included within this group vary between different classifications. From Health in Code, according to what is included in the book Kanski’s Clinical Ophthalmology, we have included the following diseases under this title:

  • Usher syndrome.
  • Bardet–Biedl syndrome.
  • Abetalipoproteinemia.
  • Refsum disease.
  • Retinitis punctata albescens.
  • Leber congenital amaurosis.
  • Senior-Løken disease.
  • Alstrom syndrome.
  • Sectoral retinitis pigmentosa.
  • Pigmented paravenous chorioretinal atrophy.

The Atypical Retinitis Pigmentosa panel is recommended when there is a strong suspicion that the patient suffers from one of the diseases analyzed by this panel, but there is a diagnostic doubt between at least two of them

In this clinical context, reaching a definitive diagnosis can be of great value to prevent or early detect accompanying problems specific to the diagnosed entity.

Service indicated when at least one of the following diseases is suspected, but with the possibility of at least one of the entities included in the panel is considered:

  • Usher syndrome.
  • Bardet–Biedl syndrome.
  • Abetalipoproteinemia.
  • Refsum disease.
  • Retinitis punctata albescens.
  • Leber congenital amaurosis.
  • Senior-Løken disease.
  • Alstrom syndrome.
  • Sectoral retinitis pigmentosa.
  • Pigmented paravenous chorioretinal atrophy.

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Atypical retinitis pigmentosa

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Technique: Exome

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Ref. S-202313092

Atypical retinitis pigmentosa: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of the main forms of syndromic retinitis pigmentosa and the atypical forms of the disease.

  • ADGRV1
  • AIPL1
  • ALMS1
  • ARL6
  • ARSG
  • BBIP1
  • BBS1
  • BBS10
  • BBS12
  • BBS2
  • BBS4
  • BBS5
  • BBS7
  • BBS9
  • C8orf37
  • CABP4
  • CCDC28B
  • CDH23
  • CEP164
  • CEP290
  • CIB2
  • CLRN1
  • CLUAP1
  • CRB1
  • CRX
  • DTHD1
  • ESPN
  • FBN3
  • GDF6
  • GUCY2D
  • HARS
  • IFT140
  • IFT172
  • IFT27
  • IFT74
  • IMPDH1
  • IQCB1
  • KCNJ13
  • LCA5
  • LRAT
  • LZTFL1
  • MKKS
  • MKS1
  • MTTP
  • MYO7A
  • NMNAT1
  • NPHP1
  • NPHP4
  • OTX2
  • PCDH15
  • PDZD7
  • PEX1
  • PHYH
  • PRPH2
  • RD3
  • RDH12
  • RDH5
  • RHO
  • RLBP1
  • RPE65
  • RPGR
  • RPGRIP1
  • SAG
  • SCAPER
  • SCLT1
  • SDCCAG8
  • SPATA7
  • TRAF3IP1
  • TRIM32
  • TTC8
  • TUBB4B
  • TULP1
  • USH1C
  • USH1G
  • USH2A
  • USP45
  • WDPCP
  • WDR19
  • WHRN

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

  • Usher syndrome.
  • Bardet–Biedl syndrome.
  • Abetalipoproteinemia.
  • Refsum disease.
  • Retinitis punctata albescens.
  • Leber congenital amaurosis.
  • Senior-Løken disease.
  • Alstrom syndrome.
  • Sectoral retinitis pigmentosa.
  • Pigmented paravenous chorioretinal atrophy.

References

  1. Forsyth RL, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14 [Updated 2023 Mar 23]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1363/
  2. Kumaran N, Pennesi ME, Yang P, et al. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. 2018 Oct 4 [Updated 2023 Mar 23]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK531510/
  3. Koenekoop RK, Arriaga MA, Trzupek KM, et al. Usher Syndrome Type I. 1999 Dec 10 [Updated 2020 Oct 8]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1265/
  4. Koenekoop R, Arriaga M, Trzupek KM, et al. Usher Syndrome Type II. 1999 Dec 10 [Updated 2023 Mar 23]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1341/