Autosomal recessive retinitis pigmentosa: genes and variants

Genes linked to Autosomal recessive retinitis pigmentosa

• MERTK: Tyrosine-protein kinase Mer

  It promotes engulfment of apoptotic cells and dampens inflammatory responses after activation by GAS6 or protein S, with important roles in retinal pigment epithelium and immune cells. Biallelic loss-of-function variants cause retinitis pigmentosa, while tumor cells can exploit MERTK signaling for survival and immune evasion.

  1 disease-causing and 0 uncertain variants in MERTK are linked to Autosomal recessive retinitis pigmentosa.

• ABCA4: Retinal-specific phospholipid-transporting ATPase ABCA4

  It flips retinal-derived lipid adducts across photoreceptor disc membranes so they can be cleared during the visual cycle. Biallelic loss-of-function variants cause Stargardt disease and can also produce cone-rod dystrophy or retinitis pigmentosa.

  1 disease-causing and 0 uncertain variants in ABCA4 are linked to Autosomal recessive retinitis pigmentosa.

• CRB1: Protein crumbs homolog 1

  It helps maintain apical polarity and structural organization of photoreceptors and Muller glia in the retina. Biallelic pathogenic variants cause inherited retinal dystrophies including Leber congenital amaurosis and retinitis pigmentosa.

  1 disease-causing and 0 uncertain variants in CRB1 are linked to Autosomal recessive retinitis pigmentosa.

• USH2A: Usherin

  It helps organize extracellular and membrane structures required for cochlear hair-cell and photoreceptor function. Biallelic pathogenic variants cause Usher syndrome type 2A or nonsyndromic retinitis pigmentosa and can also produce isolated hearing loss.

  1 disease-causing and 0 uncertain variants in USH2A are linked to Autosomal recessive retinitis pigmentosa.

• EYS: Protein eyes shut homolog

  0 disease-causing and 2 uncertain variants in EYS are linked to Autosomal recessive retinitis pigmentosa.

• RPE65: Retinoid isomerohydrolase

  It regenerates 11-cis-retinoid chromophore in the retinal pigment epithelium, allowing visual pigments to recover after light exposure. Biallelic loss-of-function variants cause severe inherited retinal dystrophy, and RPE65-associated disease is treatable with approved gene-replacement therapy.

  0 disease-causing and 0 uncertain variants in RPE65 are linked to Autosomal recessive retinitis pigmentosa.

• PDE6B: Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

  It hydrolyzes cyclic GMP after light activation in rod photoreceptors, causing cyclic-nucleotide-gated channels to close and initiating the electrical visual response. Biallelic loss-of-function variants cause retinitis pigmentosa, while certain variants can cause congenital stationary night blindness.

  1 disease-causing and 0 uncertain variants in PDE6B are linked to Autosomal recessive retinitis pigmentosa.

• 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.

  1 disease-causing and 0 uncertain variants in RLBP1 are linked to Autosomal recessive retinitis pigmentosa.

Weakly linked (only a few uncertain records): BBS2 and NR2E3.

Known disease-causing variants in Autosomal recessive retinitis pigmentosa

Same protein, different disease

• Retinitis pigmentosa is also caused by MERTK variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (11 disease-causing).
• Leber congenital amaurosis is also caused by CRB1 variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (141 disease-causing).
• Retinitis pigmentosa is also caused by CRB1 variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (128 disease-causing).
• Pigmented paravenous retinochoroidal atrophy is also caused by CRB1 variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (11 disease-causing).
• Severe early-childhood-onset retinal dystrophy is also caused by ABCA4 variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (148 disease-causing).
• ABCA4-related retinopathy is also caused by ABCA4 variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (60 disease-causing).
• Retinitis pigmentosa is also caused by ABCA4 variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (58 disease-causing).
• Stargardt disease is also caused by ABCA4 variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (41 disease-causing).
• Age related macular degeneration 9 is also caused by ABCA4 variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (41 disease-causing).
• Usher syndrome is also caused by USH2A variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (40 disease-causing).
• Retinitis pigmentosa is also caused by USH2A variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (23 disease-causing).
• Retinitis pigmentosa is also caused by PDE6B variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (15 disease-causing).
• Bothnia retinal dystrophy is also caused by RLBP1 variants; they fall mostly in different places as the Autosomal recessive retinitis pigmentosa variants (3 disease-causing).
• Retinitis pigmentosa is also caused by RLBP1 variants; they fall partly in the same places as the Autosomal recessive retinitis pigmentosa variants (3 disease-causing).

Diseases related to Autosomal recessive retinitis pigmentosa

• Retinitis pigmentosa, also linked to ABCA4, CRB1, EYS, MERTK and 4 more
• Leber congenital amaurosis, also linked to ABCA4, CRB1 and RPE65
• Cone-rod dystrophy, also linked to ABCA4, CRB1 and USH2A
• Severe early-childhood-onset retinal dystrophy, also linked to ABCA4 and CRB1
• Retinal disorder, also linked to ABCA4 and USH2A
• Congenital stationary night blindness autosomal dominant 3, also linked to ABCA4 and PDE6B
• Usher syndrome, also linked to USH2A
• RPE65-related recessive retinopathy, also linked to RPE65
• Rare genetic deafness, also linked to USH2A
• ABCA4-related retinopathy, also linked to ABCA4
• Stargardt disease, also linked to ABCA4
• Age related macular degeneration 9, also linked to ABCA4

Frequently asked questions

Which genes are linked to Autosomal recessive retinitis pigmentosa?

In CATVariant, Autosomal recessive retinitis pigmentosa is linked to 8 analyzed proteins: MERTK (Tyrosine-protein kinase Mer), ABCA4 (Retinal-specific phospholipid-transporting ATPase ABCA4), CRB1 (Protein crumbs homolog 1), USH2A (Usherin), EYS (Protein eyes shut homolog), RPE65 (Retinoid isomerohydrolase) and 2 more.

How many genetic variants are linked to Autosomal recessive retinitis pigmentosa?

19 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.

Which uncertain variants in Autosomal recessive retinitis pigmentosa 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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