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41 Possible Causes for Abnormal Corticomedullary Differentiation, Loss of Vision, Retinal Degeneration

  • Primary Optic Atrophy

    This patient’s optic nerve condition was classified as a significant problem where the risk of central vision loss without treatment was possible.[decisionmakerplus.net] Degeneration of retinal ganglion cells and their axons; bilateral subacute optic neuropathy, typically with simultaneous or rapidly sequential central or cecocentral visual[unboundmedicine.com] Radiographs reveal diffuse bone sclerosis, loss of the normal corticomedullary differentiation, dense homogeneous appearance due to abnormally increased bone density with[djo.org.in]

  • Senior-Løken Syndrome

    […] diagnosis of these varieties of hereditary tapeto-retinal degeneration.[ncbi.nlm.nih.gov] Early symptoms of the retinal dystrophy associated with Senior-Løken syndrome may include increased pigmentation (color) or loss of vision, and the inability to see at night[diseaseinfosearch.org] Absence of renal corticomedullary differentiation Short proximal phalanx of finger Vascular ring Aplasia of the middle phalanx of the hand Pyelonephritis Frontal upsweep[mendelian.co]

  • Bardet-Biedl Syndrome

    Vision loss is one of the major features of Bardet-Biedl syndrome.[ghr.nlm.nih.gov] For most people with BBS, retinal degeneration begins at the edges of the retina and progress toward the center.[bardetbiedl.org] Abnormalities were categorized as atrophic/scarring, echogenic or loss of corticomedullary differentiation, cystic or dysplastic, other developmental abnormality, or hydronephrosis[jasn.asnjournals.org]

  • Ataxia Telangiectasia

    AIM: Visual impairment is present in almost all patients with ataxia telangiectasia (AT) and, due to their early onset, constitute an important disabling aspect of the syndrome[ncbi.nlm.nih.gov] Björklund, Markus Ringnér, Thomas Perlmann & Johan Holmberg Nature Communications (2018) DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice[doi.org] Cellular immunity can also be affected in A-T: abnormal development of the thymus, with absence of Hassall's corpuscles and corticomedullary differentiation, impaired delayed[err.ersjournals.com]

  • Nephronophthisis 12

    […] of peripheral vision, night blindness, reduced visual acuity, and possible total vision loss Decreased kidney function resulting in chronic renal failure End-stage renal[dovemed.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 3

    […] coworkers2 was called by them: "a retinal dystrophy undistlnguishable from Leber's tapeto retinal degeneration."[healio.com] […] of peripheral vision, night blindness, reduced visual acuity, and possible total vision loss Decreased kidney function resulting in chronic renal failure End-stage renal[dovemed.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 2

    […] of peripheral vision, night blindness, reduced visual acuity, and possible total vision loss Decreased kidney function resulting in chronic renal failure End-stage renal[dovemed.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 9

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] […] of peripheral vision, night blindness, reduced visual acuity, and possible total vision loss Decreased kidney function resulting in chronic renal failure End-stage renal[dovemed.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 16

    NPHP is a therefore considered to be a ciliopathy, and can be part of a broad spectrum of clinical disease that includes extra-renal manifestations including retinal degeneration[content.iospress.com] […] of peripheral vision, night blindness, reduced visual acuity, and possible total vision loss In 5-10 years, the individual’s kidney stops functioning resulting in chronic[dovemed.com] Renal corticomedullary cysts (HP:0000108) ........ Abnormal renal corticomedullary differentiation (HP:0005932) ...................[mseqdr.org]

  • Nephronophthisis 13

    […] of peripheral vision, night blindness, reduced visual acuity, and possible total vision loss Decreased kidney function resulting in chronic renal failure End-stage renal[dovemed.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

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