IllnessMacular degeneration, early onset; differentialdiagnosis

NGS +

Stargardt macular degeneration causes progressive vision loss as the retina and specifically the macula is attacked. Most often, lipofuscin is deposited in the macula, damaging the cells that are critical for clear central vision. In addition, macular degeneration affects night vision (and color vision). Stargardt disease typically begins in late childhood to early adulthood and worsens later. Depending on the mutated gene, Stargardt disease can be inherited in a formally autosomal recessive (ABCA4; most frequently mutated) or autosomal dominant (ELOVL, PROM1) manner. The autosomal recessive inherited bestrophinopathy has its typical onset in the first decade, but on the other hand can remain asymptomatic until the fifth decade. It is a more severe retinopathy than best vitelliform macular dystrophy, which also becomes manifest in childhood or adolescence and shows incomplete penetrance (>70%). Visual acuity can range from normal to less than 20/200, depending on the macular involvement of the disease. Affected individuals are hyperopic and have shallow anterior chambers, making them prone to angle closure glaucoma. Other forms of early-onset macular degeneration are less commonly seen in most populations. The DNA diagnostic yield of the Amedes panel reaches ~65%. Reliable population data are not yet available for most of the involved genes in the panel. Thus, a negative result does not represent exclusion of the diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1167/

• Alias: Macula degeneration, juvenile
• Allelic: Leber congenital amaurosis 6 (RPGRIP1)
• Allelic: Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
• Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
• Allelic: Complement factor H deficiency (CFH)
• Allelic: Cone-rod dystrophy 12 (PROM1)
• Allelic: Cone-rod dystrophy 3 (ABCA4)
• Allelic: Cone-rod dystrophy, XL, 1 (RPGR)
• Allelic: Fundus flavimaculatus (ABCA4)
• Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 1 (CFH)
• Allelic: Ichthyosis, spastic quadriplegia, and mental retardation (ELOVL4)
• Allelic: Leber congenital amaurosis 18 (PRPH2)
• Allelic: Macular degeneration, age-related, 6 (RAX2)
• Allelic: Microcornea, rod-cone dystrophy, cataract, posterior staphyloma (BEST1)
• Allelic: Microphthalmia, isolated, with coloboma 10 (RBP4)
• Allelic: Retinal dystrophy, early-onset severe (ABCA4)
• Allelic: Retinitis pigmentosa 1 (ABCA4)
• Allelic: Retinitis pigmentosa 3 (RPGR)
• Allelic: Retinitis pigmentosa 41 (PROM1)
• Allelic: Retinitis pigmentosa 48 (GUCA1B)
• Allelic: Retinitis pigmentosa 56 (IMPG2)
• Allelic: Retinitis pigmentosa 7 + digenic form (PRPH2)
• Allelic: Retinitis pigmentosa 88 (RP1L1)
• 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: Retinoschisis (RS1)
• Allelic: Spinocerebellar ataxia 34 (ELOVL4)
• Allelic: Vitreoretinochoroidopathy (BEST1)
• Achromatopsia 3 (CNGB3)
• Basal laminar drusen (CFH(`)
• Bestrophinopathy, AR (BEST1)
• Cone-rod dystrophy 11 (RAX2)
• Cone-rod dystrophy 13 (RPGRIP1)
• Doyne honeycomb degeneration of retina (EFEMP1)
• Ectodermal dysplasia, ectrodactyly + macular dystrophy (CDH3)
• Fundus albipunctatus (RDH5)
• Hypotrichosis, congenital, with juvenile macular dystrophy (CDH3)
• Leber congenital amaurosis 13 (RDH12)
• Macula dystrophy, hemorrhagic (Sorsby fundus dystrophy) included
• Macular degeneration, XL atrophic (RPGR)
• Macular degeneration, age-related, 2 (ABCA4)
• Macular degeneration, age-related, 4 (CFH)
• Macular dystrophy with central cone involvement (MFSD8)
• Macular dystrophy, patterned, 1 (PRPH2)
• Macular dystrophy, patterned, 2 (CTNNA1)
• Macular dystrophy, retinal, 2 (PROM1)
• Macular dystrophy, vitelliform, 2 (BEST1)
• Macular dystrophy, vitelliform, 3 (PRPH2)
• Macular dystrophy, vitelliform, 4 (IMPG1)
• Macular dystrophy, vitelliform, 5 (IMPG2)
• Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
• Occult macular dystrophy (RP1L1)
• Retinal dystrophy with/-out extraocular anomalies (RCBTB1)
• Retinal dystrophy, iris coloboma, comedogenic acne syndrome (PBP4)
• Retinitis pigmentosa 38 (MERTK)
• Sorsby fundus dystrophy (TIMP3)
• Stargardt disease 1 (ABCA4)
• Stargardt disease 3 (ELOVL4)
• Stargardt disease 4 (PROM1)