FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: retinal macular dystrophy 2
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General Information
Name
retinal macular dystrophy 2
FlyBase ID
FBhh0000217
Disease Ontology Term
Parent Disease
OMIM
MACULAR DYSTROPHY, RETINAL, 2; MCDR2
Overview

This report describes retinal macular dystrophy 2 (MCDR2); MCDR2 exhibits autosomal dominant inheritance. The macula is the central area of the retina that contains photoreceptors responsible for central vision and color perception. The human gene implicated in this disease is Prominin 1 (PROM1), which encodes a transmembrane glycoprotein that appears to have multiple roles in cell differentiation and proliferation. PROM1 is also implicated in other diseases associated with retinal degeneration (MIM:604365). See the report for 'retinal disease, PROM1-related' (FBhh0000571) for information on experimental results using Drosophila models of this and related diseases.

Variant(s) implicated in human disease tested (as transgenic human gene, PROM1): the R373C variant form has been introduced into flies; this variant is implicated in three of the diseases associated with PROM1, retinal macular dystrophy 2 (MCDR2), Stargardt disease 4 (STGD4), and cone-rod dystrophy 12 (CRD12).

[updated Jun. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: retinal macular dystrophy 2
OMIM report

[MACULAR DYSTROPHY, RETINAL, 2; MCDR2](https://omim.org/entry/608051)

Human gene(s) implicated

[PROMININ 1; PROM1](https://omim.org/entry/604365)

Symptoms and phenotype

Retinal macular dystrophy-2 (MCDR2) is inherited as an autosomal dominant, with fully penetrant retinopathy characterized by the consistent finding of bull's eye maculopathy, and highly variable rod or rod-cone dysfunction. [from MIM:608051; 2016.03.22]

(OMIM, 2013-)
Genetics

Retinal macular dystrophy-2 (MCDR2) is caused by mutation in the prominin-1 gene (PROM1). A common variant causing this phenotype is R373C. [from MIM:608051; 2016.03.22]

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

PROM1 encodes a pentaspan transmembrane glycoprotein which appears to play a role in multiple developmental processes, including retinal development. [from Gene Cards, PROM1; 2016.03.18]

(FlyBase Curators, 2013-)
External links
Disease synonyms
Macular dystrophy, retinal, 2
MCDR2
retinal macular dystrophy-2
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    PROM1; prominin 1
    D. melanogaster ortholog (based on DIOPT)
    Dmel\promL
    (DIOPT, 2013-)
    Dmel\prom
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to many: 2 human to 2 Drosophila. The human genes PROM1 and PROM2 are orthologous to fly genes Dmel\prominin-like and Dmel\prom. In flies, there is an additional low-scoring ortholog.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        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
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        Selected Drosophila transgenes
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        RNAi constructs available
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        Publicly Available Stocks
        Selected Drosophila classical alleles
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        References (5)