Pigmentary retinal dystrophy: genes and variants

Genes linked to Pigmentary retinal dystrophy

• RHO: Rhodopsin

  Photon absorption converts its retinal chromophore and triggers the G-protein cascade that initiates rod phototransduction. Pathogenic variants are a major cause of autosomal dominant retinitis pigmentosa and can also cause congenital stationary night blindness.

  5 disease-causing and 4 uncertain variants in RHO are linked to Pigmentary retinal dystrophy.

• 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 6 uncertain variants in PRPH2 are linked to Pigmentary retinal dystrophy.

• RLBP1: Retinaldehyde-binding protein 1

  It binds 11-cis-retinoids in retinal pigment epithelium and Muller cells and supports regeneration and trafficking of visual-cycle chromophore. Biallelic pathogenic variants cause retinal dystrophies including Bothnia dystrophy, retinitis punctata albescens, and fundus albipunctatus-like disease.

  0 disease-causing and 10 uncertain variants in RLBP1 are linked to Pigmentary retinal dystrophy.

Where Pigmentary retinal dystrophy variants cluster

• RHO Transmembrane (positions 74–96): 3 of 5 disease-causing changes, 9.1× more than its size predicts.

Known disease-causing variants in Pigmentary retinal dystrophy

Which prediction tools work for Pigmentary retinal dystrophy

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• PolyPhen-2: 94 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CATVariant: 83 out of 100 (learned from overlapping clinical labels, so this is optimistic)

Same protein, different disease

• Retinitis pigmentosa is also caused by RHO variants; they fall mostly in different places as the Pigmentary retinal dystrophy variants (65 disease-causing).
• Congenital stationary night blindness autosomal dominant 3 is also caused by RHO variants; they fall mostly in different places as the Pigmentary retinal dystrophy variants (3 disease-causing).
• Retinal disorder is also caused by RHO variants; they fall mostly in different places as the Pigmentary retinal dystrophy variants (3 disease-causing).
• Retinitis pigmentosa is also caused by PRPH2 variants; they fall mostly in different places as the Pigmentary retinal dystrophy 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 Pigmentary retinal dystrophy variants (11 disease-causing).
• Stargardt disease is also caused by PRPH2 variants; they fall mostly in different places as the Pigmentary retinal dystrophy variants (4 disease-causing).
• Patterned macular dystrophy 1 is also caused by PRPH2 variants; they fall mostly in different places as the Pigmentary retinal dystrophy variants (3 disease-causing).
• Vitelliform macular dystrophy 2 is also caused by PRPH2 variants; they fall mostly in different places as the Pigmentary retinal dystrophy variants (3 disease-causing).

Diseases related to Pigmentary retinal dystrophy

• Retinitis pigmentosa, also linked to PRPH2, RHO and RLBP1
• Retinal disorder, also linked to PRPH2 and RHO
• Stargardt disease, also linked to PRPH2
• Cone-rod dystrophy, also linked to PRPH2
• Vitelliform macular dystrophy 2, also linked to PRPH2
• Patterned dystrophy of the retinal pigment epithelium, also linked to PRPH2
• Congenital stationary night blindness autosomal dominant 3, also linked to RHO
• Autosomal recessive retinitis pigmentosa, also linked to RLBP1
• Patterned macular dystrophy 1, also linked to PRPH2
• Bothnia retinal dystrophy, also linked to RLBP1
• Cataract, also linked to RHO
• Choroidal dystrophy, central areolar 2, also linked to PRPH2

Frequently asked questions

Which genes are linked to Pigmentary retinal dystrophy?

In CATVariant, Pigmentary retinal dystrophy is linked to 3 analyzed proteins: RHO (Rhodopsin), PRPH2 (Peripherin-2) and RLBP1 (Retinaldehyde-binding protein 1).

How many genetic variants are linked to Pigmentary retinal dystrophy?

28 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 20 are of uncertain significance or have conflicting reports.

Which uncertain variants in Pigmentary retinal dystrophy 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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