Macular Dystrophy, Vitelliform, 4; Vmd4

Description

Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). Vitelliform macular dystrophy-4 is characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG) (Meunier et al., 2014).For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Macular Dystrophy, Vitelliform, 4; Vmd4

  • Visual impairment
  • Abnormality of skin pigmentation
  • Macular dystrophy
  • Drusen
  • Vitelliform-like macular lesions
  • Moderate vision loss

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Macular Dystrophy, Vitelliform, 4; Vmd4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
IMPG1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

IMPG1
Specificity
100 %
Genes
100 %
Stargardt disease and macular distrophy (NGS panel for 14 genes).

By CGC Genetics (Portugal).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RDH12, CNGB3, ABCA4, FSCN2, IMPG1, PROM1, PRPH2
Specificity
8 %
Genes
100 %
Macular dystrophy vitelliform 4 (sequence analysis of IMPG1 gene).

By CGC Genetics (Portugal).

IMPG1
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Autosomal Dominant Vitelliform Macular Dystrophy via IMPG1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

IMPG1
Specificity
100 %
Genes
100 %
Stargardt Disease and Macular Dystrophies Panel.

By CeGaT GmbH (Germany).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, IMPG2, TTLL5, RDH12, CLN3, CNGB3, CRB1, CRX, CTNNA1, MFSD8, DRAM2, ABCA4, FSCN2, IMPG1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Vitelliform Macular Dystrophy.

By Asper Biogene Asper Biogene LLC (Estonia).

BEST1, IMPG1, PRPH2
Specificity
34 %
Genes
100 %

We have 8 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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