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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene
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    1. ClingenBaseline 24 Oct 2026
      Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene

      PMID: 15623792

      Gene: CRB1

      HGNC: 2343

      Disease: pigmented paravenous retinochoroidal atrophy

      MONDO: 0008246

      InheritancePattern: autosomal dominant

      Prevalence: Orphanet defines pigmented paravenous retinochoroidal atrophy as a rare disorder with incidence lower than 1 in 1,000,000. However, the incidence is not well-reported in published papers and may be more common than this.

      Penetrance: The paper reporting affected family members shows 6 affected genotype-positive individuals and 1 unaffected genotype-negative individual. On the other hand, the high frequency of the variant in gnomAD would be consistent with incomplete penetrance or low rate of diagnosis.

      General ClinGen Gene:CRB1 HGNC:2343 inferred_gene_hgnc:2343 inferred_gene_source:hgnc_tag Retina GCEP
    2. ClingenBaseline 24 Oct 2026
      PPCRA was dominantly inherited in this family, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a Val162Met mutation in CRB1 which is likely to affect the structure of the CRB1 protein.

      FamilyLabel: McKay_2005_Family, family ethnic origin reported as white

      Family#PresentingHPOs: HP:0000533 (Chorioretinal atrophy), HP:0007903 (Paravenous chorioretinal atrophy), HP:0007663 (Reduced visual acuity), HP:0030469 (Abnormal dark-adapted electroretinogram)

      FamilyHPOFreeText: The patient and affected family members have been diagnosed with pigmented paravenous retinochoroidal atrophy. Expressivity is very variable, but all members showed subtle symmetrical chorioretinal atrophy in the inferior quadrant as the presenting feature, with atrophy later becoming more widespread. The proband had optic disc drusen. OCT through an area of bony spicule pigmentation showed that the pigment was located in the superficial neuroretina.

      Family#PresentingNotHPOs: HP:0030603 (Abnormal optical coherence tomography)

      Family#PresentingNotHPOFreeText: N/A

      CountryOrigin: Possibly the United Kingdom

      Ethnicity: Not mentioned

      Race: White

      Family#PreviousTesting: Sanger sequencing of candidate genes associated with retinal degeneration was performed, with only the CRB1 locus specifically identified.

      Family#Method1: Sanger sequencing of CRB1

      Family#Method2: N/A

      Family#GenotypingMethod: Genotyping appears to have been limited to Sanger sequencing of candidate genes associated with retinal degeneration, including the CRB1 locus.

      Affected: 6

      Unaffected: 1

      Segregations: Five segregations are reported in the family, with none inconsistent. The pedigree is shown in Figure 1.

      PublishedLOD: 1.8

      eLOD: N/A

      AddSegregationInfo: N/A

      ProbandLabel: McKay_2005_Family_Proband_III:3

      Variant: The affected family members harbor the NM_201253.3(CRB1):c.484G>A (p.Val162Met) variant in the heterozygous state.

      ClinVarID: 5738

      gnomAD: This variant is found in gnomAD v4.1.1 at a frequency of 0.001610 overall, with a similar frequency in the European (non-Finnish) population and 6 homozygotes overall https://gnomad.broadinstitute.org/variant/chr1-197328835-G-A?dataset=gnomad_r4

      FamilyAddInfo: The family has not been reported as consanguineous.

      FamilyPMIDs: N/A

      Case Family FamilyInfo Gene:CRB1 HGNC:2343 inferred_gene_hgnc:2343 inferred_gene_source:hgnc_tag Retina GCEP
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