Fundus albipunctatus: genes and variants

Genes linked to Fundus albipunctatus

• 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 ClinVar pathogenic / likely pathogenic and 4 uncertain variants in RHO have source records linked to Fundus albipunctatus. Association strength is not clinical gene validity.

• 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 ClinVar pathogenic / likely pathogenic and 6 uncertain variants in PRPH2 have source records linked to Fundus albipunctatus. Association strength is not clinical gene validity.

• 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 ClinVar pathogenic / likely pathogenic and 10 uncertain variants in RLBP1 have source records linked to Fundus albipunctatus. Association strength is not clinical gene validity.

Where Fundus albipunctatus variants cluster

• RHO Transmembrane (positions 74–96): 3 of 5 ClinVar pathogenic / likely pathogenic variants, 9.1× more than its size predicts.

ClinVar pathogenic and likely pathogenic variants linked to Fundus albipunctatus

Which prediction tools work for Fundus albipunctatus

Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.

• 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 also has ClinVar records linked to RHO variants; they fall mostly in different places as the Fundus albipunctatus variants (65 pathogenic / likely pathogenic).
• Congenital stationary night blindness autosomal dominant 3 also has ClinVar records linked to RHO variants; they fall mostly in different places as the Fundus albipunctatus variants (3 pathogenic / likely pathogenic).
• Retinal disorder also has ClinVar records linked to RHO variants; they fall mostly in different places as the Fundus albipunctatus variants (3 pathogenic / likely pathogenic).
• Retinitis pigmentosa also has ClinVar records linked to PRPH2 variants; they fall mostly in different places as the Fundus albipunctatus variants (14 pathogenic / likely pathogenic).
• Patterned dystrophy of the retinal pigment epithelium also has ClinVar records linked to PRPH2 variants; they fall mostly in different places as the Fundus albipunctatus variants (11 pathogenic / likely pathogenic).
• Stargardt disease also has ClinVar records linked to PRPH2 variants; they fall mostly in different places as the Fundus albipunctatus variants (4 pathogenic / likely pathogenic).
• Patterned macular dystrophy 1 also has ClinVar records linked to PRPH2 variants; they fall mostly in different places as the Fundus albipunctatus variants (3 pathogenic / likely pathogenic).
• Vitelliform macular dystrophy 2 also has ClinVar records linked to PRPH2 variants; they fall mostly in different places as the Fundus albipunctatus variants (3 pathogenic / likely pathogenic).

Diseases related to Fundus albipunctatus

• 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

Frequently asked questions

Which genes have records linked to Fundus albipunctatus?

This view contains 3 analyzed proteins: RHO, PRPH2, RLBP1. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.

What do the clinical classifications mean?

Linked records include 8 pathogenic or likely pathogenic variants, 14 variants of uncertain significance and 6 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.

Does the evidence score change a VUS classification?

No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.

Can I download the variant evidence?

Download the CSV for all 40 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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