Stargardt Disease

Description

Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

Clinical Features

Top most frequent phenotypes and symptoms related to Stargardt Disease

  • Reduced visual acuity
  • Nyctalopia
  • Macular degeneration
  • Abnormality of color vision
  • Central scotoma
  • Abnormality of visual evoked potentials
  • Retinal pigment epithelial atrophy
  • Abnormality of macular pigmentation
  • Retinal thinning
  • Retinal pigment epithelial mottling

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available STARGARDT DISEASE have a estimated prevalence of 10 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Stargardt Disease Is also known as fundus flavimaculatus, stargardt 1.

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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Stargardt Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Cone-Rod Dystrophy Panel.

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

RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)

View the complete list with 16 more genes
Specificity
12 %
Genes
80 %
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
21 %
Genes
100 %
Achromatopsia Type - CNGB3 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

CNGB3
Specificity
100 %
Genes
20 %
Acromatopsia, CNGA3/CNGB3, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

CNGA3, CNGB3
Specificity
50 %
Genes
20 %
CNGB3.

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

CNGB3
Specificity
100 %
Genes
20 %
CNGB3 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

CNGB3
Specificity
100 %
Genes
20 %
CNGB3. Detection of the mutation c.1148delC by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CNGB3
Specificity
100 %
Genes
20 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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