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IllnessMorbus Stargardt, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Morbus Stargardt containing 3 guideline-curated genes, 9 core candidate genes and altogether 16 curated genes according to the clinical signs

ID
SP0980
Number of genes
16 Accredited laboratory test
Examined sequence length
24,3 kb (Core-/Core-canditate-Genes)
34,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCA46822NM_000350.3AR
BEST11758NM_004183.4AD, AR
CDH32490NM_001793.6AR
CNGB32430NM_019098.5AR
ELOVL4945NM_022726.4AD
IMPG12394NM_001563.4AD, AR
IMPG23726NM_016247.4AD, AR
PROM12598NM_006017.3AD
PRPH21041NM_000322.5AD, AR, digenisch
EFEMP11482NM_001039348.3AD
GUCA1B603NM_002098.6AD
RBP4606NM_006744.4AR
RDH12951NM_152443.3AR, AD
RPGR2448NM_000328.3XL
RPGRIP13861NM_020366.4AR
TIMP3636NM_000362.5AD

Informations about the disease

Clinical Comment

Stargardt disease is the most common, but only one of several genetic diseases that cause progressive macular degeneration with (sometimes undetected) loss of vision in childhood or adolescence, patients rarely go completely blind. In the more and more complex differential diagnosis, besides ABCA4 (Stargardt disease 1), ELOVL4 (Stargardt disease 3) and PROM1 (Stargardt disease 4) some other genes have to be included. The disease is usually inherited autosomal recessively, more rarely autosomal dominantly. The diagnostic yield reaches >70-80%. An inconspicuous genetic finding does not mean an exclusion of the suspected clinical diagnosis, especially since the differential diagnosis with (clinically closely) related macular degeneration syndromes can be very difficult.

Reference: https://www.orpha.net/data/patho/Han/Int/fr/MaladieDeStargardt_FR_fr_HAN_ORPHA827.pdf

 

Synonyms
  • Alias: Stargardt-Erkrankung
  • Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
  • Allelic: Cone-rod dystrophy 12 (PROM1)
  • Allelic: Cone-rod dystrophy, XL, 1 (RPGR)
  • Allelic: Ichthyosis, spastic quadriplegia, and mental retardation (ELOVL4)
  • Allelic: Leber congenital amaurosis 18 (PRPH2)
  • Allelic: Leber congenital amaurosis 6 (RPGRIP1)
  • Allelic: Macular dystrophy, patterned, 1 (PRPH2)
  • Allelic: Macular dystrophy, retinal, 2 (PROM1)
  • Allelic: Microcornea, rod-cone dystrophy, cataract, posterior staphyloma (BEST1)
  • Allelic: Microphthalmia, isolated, with coloboma 10 (RBP4)
  • Allelic: Retinitis pigmentosa 3 (RPGR)
  • Allelic: Retinitis pigmentosa 41 (PROM1)
  • Allelic: Retinitis pigmentosa 56 (IMPG2)
  • Allelic: Retinitis pigmentosa 7 + digenic form (PRPH2)
  • Allelic: Retinitis pigmentosa, XL, sinorespiratory infections, with/-out deafness (RPGR)
  • Allelic: Retinitis pigmentosa, concentric (BEST1)
  • Allelic: Retinitis pigmentosa-50 (BEST1)
  • Allelic: Retinitis punctata albescens (PRPH2)
  • Allelic: Spinocerebellar ataxia 34 (ELOVL4)
  • Allelic: Vitreoretinochoroidopathy (BEST1)
  • Achromatopsia 3 (CNGB3)
  • Bestrophinopathy, AR (BEST1)
  • Cone-rod dystrophy 13 (RPGRIP1)
  • Doyne honeycomb degeneration of retina (EFEMP1)
  • Ectodermal dysplasia, ectrodactyly, macular dystrophy (CDH3)
  • Fundus flavimaculatus (ABCA4)
  • Hypotrichosis, congenital, with juvenile macular dystrophy (CDH3)
  • Leber congenital amaurosis 13 (RDH12)
  • Macular degeneration, XL atrophic (RPGR)
  • Macular dystrophy, vitelliform, 2 (BEST1)
  • Macular dystrophy, vitelliform, 3 (PRPH2)
  • Macular dystrophy, vitelliform, 4 (IMPG1)
  • Macular dystrophy, vitelliform, 5 (IMPG2)
  • Retinal dystrophy, early-onset severe (ABCA4)
  • Retinal dystrophy, iris coloboma, comedogenic acne syndrome (RBP4)
  • Retinitis pigmentosa 48 (GUCA1B)
  • Sorsby fundus dystrophy (TIMP3)
  • Stargardt disease 1; Macular degeneration, juvenile; Macular dystrophy with flecks, type 1 (ABCA4)
  • Stargardt disease 3 (ELOVL4)
  • Stargardt disease 4 (PROM1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined