Patterned macular dystrophy 1: genes and variants

Genes linked to Patterned macular dystrophy 1

• PRPH2: Peripherin-2

  It organizes and stabilizes the rim structure of photoreceptor outer-segment discs. Pathogenic variants cause a wide range of inherited retinal diseases including retinitis pigmentosa, pattern dystrophy, and macular dystrophy.

  3 disease-causing and 9 uncertain variants in PRPH2 are linked to Patterned macular dystrophy 1.

• CTNNA1: Catenin alpha-1

  It links cadherin-catenin adhesion complexes to the actin cytoskeleton and helps maintain epithelial integrity and tissue architecture. Germline loss-of-function variants can predispose to diffuse gastric cancer, while biallelic variants can cause severe epithelial and skin disease.

  2 disease-causing and 91 uncertain variants in CTNNA1 are linked to Patterned macular dystrophy 1.

Known disease-causing variants in Patterned macular dystrophy 1

Same protein, different disease

• Retinitis pigmentosa is also caused by PRPH2 variants; they fall mostly in different places as the Patterned macular dystrophy 1 variants (14 disease-causing).
• Patterned dystrophy of the retinal pigment epithelium is also caused by PRPH2 variants; they fall mostly in different places as the Patterned macular dystrophy 1 variants (11 disease-causing).
• Stargardt disease is also caused by PRPH2 variants; they fall mostly in different places as the Patterned macular dystrophy 1 variants (4 disease-causing).
• Pigmentary retinal dystrophy is also caused by PRPH2 variants; they fall mostly in different places as the Patterned macular dystrophy 1 variants (3 disease-causing).
• Vitelliform macular dystrophy 2 is also caused by PRPH2 variants; they fall mostly in different places as the Patterned macular dystrophy 1 variants (3 disease-causing).

Diseases related to Patterned macular dystrophy 1

• Retinitis pigmentosa, also linked to PRPH2
• Stargardt disease, also linked to PRPH2
• Cone-rod dystrophy, also linked to PRPH2
• Vitelliform macular dystrophy 2, also linked to PRPH2
• Colorectal cancer, also linked to CTNNA1
• Retinal disorder, also linked to PRPH2
• Hereditary nonpolyposis colon cancer, also linked to CTNNA1
• Patterned dystrophy of the retinal pigment epithelium, also linked to PRPH2
• Pigmentary retinal dystrophy, also linked to PRPH2
• Hereditary diffuse gastric adenocarcinoma, also linked to CTNNA1
• Choroidal dystrophy, central areolar 2, also linked to PRPH2

Frequently asked questions

Which genes are linked to Patterned macular dystrophy 1?

In CATVariant, Patterned macular dystrophy 1 is linked to 2 analyzed proteins: PRPH2 (Peripherin-2) and CTNNA1 (Catenin alpha-1).

How many genetic variants are linked to Patterned macular dystrophy 1?

122 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 100 are of uncertain significance or have conflicting reports.

Which uncertain variants in Patterned macular dystrophy 1 look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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