FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: retinitis pigmentosa 25
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General Information
Name
retinitis pigmentosa 25
FlyBase ID
FBhh0000202
Disease Ontology Term
Parent Disease
OMIM
RETINITIS PIGMENTOSA 25; RP25
Overview

This report describes retinitis pigmentosa 25 (RP25), which is a subtype of retinitis pigmentosa; RP25 exhibits autosomal recessive inheritance. The human gene implicated in this disease is EYS, which is expressed in the photoreceptors. There is a single fly ortholog, eys, for which loss-of-function alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.

A UAS construct for the wild-type human Hsap\EYS has been introduced into flies. Expression of human EYS has only a weak effect upon the eye phenotype of adult animals that are homozygous for a Dmel\eys mutation. However, if both human EYS and human PROM1 are expressed in an animal mutant for both Dmel\eys and Dmel\prom, rescue (functional complementation) is observed. It may be that the human EYS protein cannot interact properly with the fly prom protein, but can otherwise function in the fly in association with the human PROM1 protein (FBrf0219508; see also FBhh0000203).

Animals homozygous for loss-of-function mutations of eys have an eye phenotype of fused rhabdomeres. Genetic interactions have been characterized using animals mutant for both Dmel\eys and Dmel\prom.

[updated Jun. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: retinitis pigmentosa
Symptoms and phenotype

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008; pubmed:18376416). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. [from MIM:268000; 2016.03.07]

(OMIM, 2013-)

The rate and extent of disease progression vary markedly among RP patients, in some cases, even within the same family. [from MIM:600059; 2020.08.04]

(OMIM, 2013-)
Specific Disease Summary: retinitis pigmentosa 25
OMIM report

[RETINITIS PIGMENTOSA 25; RP25](https://omim.org/entry/602772)

Human gene(s) implicated

[EGF-LIKE PHOTORECEPTOR MAINTENANCE FACTOR; EYS](https://omim.org/entry/612424)

Symptoms and phenotype

See general description above.

(OMIM, 2013-)
Genetics

Retinitis pigmentosa 25 (RP25) is caused by homozygous or compound heterozygous mutation in the eyes shut homolog (Drosophila) (EYS) gene. [from MIM:602772; 2016.03.09]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

The EYS protein is expressed in the photoreceptor layer of the retina and is required to maintain the integrity of photoreceptor cells. [from Gene Cards, EYS; 2016.03.16]

(FlyBase Curators, 2013-)

The EYS protein was predicted to contain a signal peptide for secretion into the extracellular environment, 28 EGF-like domains, and 5 laminin A G-like domains (Collin et al, 2008; pubmed:18976725). [from MIM:612424; 2016.03.16]

(OMIM, 2013-)
External links
Disease synonyms
retinitis pigmentosa
RP25
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
Symbol / Name
EYS; EGF-like photoreceptor maintenance factor
D. melanogaster ortholog (based on DIOPT)
Dmel\eys
(DIOPT, 2013-)
Comments on ortholog(s)

One to one: 1 human to 1 Drosophila.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (1)
    Dmel\eys
    Gene Snapshot
    Contributions welcome
    Molecular function (GO)
    Cellular component (GO)
    Gene Groups / Pathways
      Comments on ortholog(s)

      Moderate-scoring ortholog of human EYS (1 Drosophila to 1 human). Dmel\eys shares 24% identity and 38% similarity with the human gene.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      H. sapiens (Human)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (1 alleles)
        eys
        Models Based on Experimental Evidence ( 1 )
        Allele
        Disease
        Evidence
        References
        eys1
        model of  retinal degeneration
        CEA
        (Gurudev et al., 2014)
        Modifiers Based on Experimental Evidence ( 0 )
        Allele
        Disease
        Interaction
        References
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Hsap\EYSUAS.cNa
        P{UAS-hEYS.N}
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        eysGD9003
        P{GD9003}
        eysGD9004
        P{GD9004}
        eysGD12181
        P{GD12181}
        w1118; P{GD12181}v22541
        eysKK104479
        P{KK104479}
        eysKK105481
        P{KK105481}
        P{KK105481}VIE-260B
        eysKK112124
        P{KK112124}
        eysRNAi.UAS.cUa
        P{UAS-eys.RNAi.U}
        eysNIG.15388R
        P{NIG.15388R}
        P{NIG.15388R}3
        eysJF01069
        P{TRiP.JF01069}
        y1 v1; P{TRiP.JF01069}attP2
        eysJF01070
        P{TRiP.JF01070}
        y1 v1; P{TRiP.JF01070}attP2
        eysJF02463
        P{TRiP.JF02463}
        y1 v1; P{TRiP.JF02463}attP2
        eysJF02708
        P{TRiP.JF02708}
        y1 v1; P{TRiP.JF02708}attP2
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        eysBG02208
        loss of function allele
        P-element activity
        w1118; P{GT1}eysBG02208
        eys1
        loss of function allele
        ethyl methanesulfonate
        y1 w*; eys1 P{neoFRT}40A cn1 bw1/CyO
        eys734
        loss of function allele
        ethyl methanesulfonate
        eys395
        loss of function allele
        ethyl methanesulfonate
        eysG13596
        loss of function allele
        References (8)