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130 Possible Causes for Adult Onset Retinal Degeneration

  • Sick Sinus Syndrome

    , X-LINKED ATROPHIC Macular dystrophy, retinal, 2 Macular dystrophy, vitelliform, adult-onset Macular dystrophy, vitelliform, adult-onset Malignant hyperthermia Malignant[pentacorelab.hu] […] syndrome 2 Long QT syndrome 3 Long QT syndrome 5 Long QT syndrome 6 Long QT syndrome 9 Lowe syndrome Lung cancer Lymphangiomyomatosis Lynch syndrome I Lynch syndrome II MACULAR DEGENERATION[pentacorelab.hu]

  • Progressive Myoclonic Epilepsy Type 7

    […] variant (Kufs disease) Genetics Clinical features: Onset in third or fourth decade Progressive dementia Seizures Myoclonus Ataxia No blindness or retinal degeneration Rare[neurodiffdx.com] […] features: Onset 5–10 years of age Begins with progressive visual loss Pigmentary degeneration of the retina Myoclonic and generalized seizures Death by end of the second decade Adult[neurodiffdx.com]

  • Retinitis Pigmentosa

    […] pigmentosa, Macular dystrophy, vitelliform, adult-onset, Retinitis pigmentosa 50, Macular dystrophy, vitelliform 2, Best macular dystrophy, Bestrophinopathy, autosomal recessive[blueprintgenetics.com] AD/AR 62 318 C1QTNF5 Late-onset retinal degeneration AD 27 7 C21ORF2 Retinal dystrophy with or without macular staphyloma (RDMS), Spondylometaphyseal dysplasia, axial (SMDAX[blueprintgenetics.com] Retinitis pigmentosa AR 58 91 BEST1 Vitreoretinochoroidopathy, Microcornea, Rod-cone dystrophy, Posterior staphyloma, Bestrophinopathy, Vitelliform macular dystrophy, Cataract, Retinitis[blueprintgenetics.com]

  • Dilated Cardiomyopathy 1R

    , X-LINKED ATROPHIC Macular dystrophy, retinal, 2 Macular dystrophy, vitelliform, adult-onset Macular dystrophy, vitelliform, adult-onset Malignant hyperthermia Malignant[pentacorelab.hu] , with choroidal neovascularization 608161 PRPH2 peripherin 2 (retinal degeneration, slow) Enf-365 Frasier syndrome 136680 WT1 Wilms tumor 1 Enf-366 Friedreich ataxia 229300[ac-gen.com] […] syndrome 2 Long QT syndrome 3 Long QT syndrome 5 Long QT syndrome 6 Long QT syndrome 9 Lowe syndrome Lung cancer Lymphangiomyomatosis Lynch syndrome I Lynch syndrome II MACULAR DEGENERATION[pentacorelab.hu]

  • Dilated Cardiomyopathy Type 2B

    , X-LINKED ATROPHIC Macular dystrophy, retinal, 2 Macular dystrophy, vitelliform, adult-onset Macular dystrophy, vitelliform, adult-onset Malignant hyperthermia Malignant[pentacorelab.hu] […] syndrome 2 Long QT syndrome 3 Long QT syndrome 5 Long QT syndrome 6 Long QT syndrome 9 Lowe syndrome Lung cancer Lymphangiomyomatosis Lynch syndrome I Lynch syndrome II MACULAR DEGENERATION[pentacorelab.hu]

  • Hallervorden-Spatz Syndrome

    Clinically, patients present with a triad of adult onset neurodegeneration, retinal degeneration, and diabetes mellitus. 1–3 Laboratory analysis, which is used to confirm[appliedradiology.com]

  • Autosomal Recessive Spastic Paraplegia Type 11
  • Dysautonomia

    , X-LINKED ATROPHIC Macular dystrophy, retinal, 2 Macular dystrophy, vitelliform, adult-onset Macular dystrophy, vitelliform, adult-onset Malignant hyperthermia Malignant[pentacorelab.hu] […] syndrome 2 Long QT syndrome 3 Long QT syndrome 5 Long QT syndrome 6 Long QT syndrome 9 Lowe syndrome Lung cancer Lymphangiomyomatosis Lynch syndrome I Lynch syndrome II MACULAR DEGENERATION[pentacorelab.hu]

  • Other Forms of Systemic Lupus Erythematosus

    Heterozygous TREX1 mutations have also been described in patients with autosomal dominant retinal vasculopathy with cerebral leukodystrophy, an adult-onset disorder characterized[musculoskeletalkey.com] […] by central nervous system degeneration, retinal vasculopathy, and nephropathy [ 15 ], and in patients with multifactorial SLE.[musculoskeletalkey.com]

  • Neuronal Ceroid Lipofuscinosis

    Haas type Polysyndactyly, unilateral POMC deficiency Pompe disease, adult onset Pompe disease, infantile onset Pompe disease, juvenile onset Pontocerebellar hypoplasia due[csbg.cnb.csic.es] Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract Polyostotic fibrous dysplasia Polyps and spots syndrome Polysyndactyly, bilateral Polysyndactyly,[csbg.cnb.csic.es] Polyepiphyseal dysplasia type 4 Polyepiphyseal dysplasia type 5 Polymicrogyria due to TUBB2B mutation Polymicrogyria with optic nerve hypoplasia Polymorphic vitelline macular degeneration[csbg.cnb.csic.es]

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