IllnessMorbus Stargardt, differential diagnosis

NGS +

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

• 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)