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42 Possible Causes for Abnormal Corticomedullary Differentiation, Nystagmus, Retinal Degeneration

  • Ataxia Telangiectasia

    Björklund, Markus Ringnér, Thomas Perlmann & Johan Holmberg Nature Communications (2018) DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice[doi.org] Abnormal ocular movements were seen in 13/15 (saccadic intrusion in 8 and nystagmus in 5).[ncbi.nlm.nih.gov] 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]

  • Senior-Løken Syndrome

    […] diagnosis of these varieties of hereditary tapeto-retinal degeneration.[ncbi.nlm.nih.gov] Upon evaluation at the age of 15- and 17-years, they were found to be blind and had nystagmus, with a normal fundus.[cags.org.ae] 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]

  • Nephronophthisis 3

    […] coworkers2 was called by them: "a retinal dystrophy undistlnguishable from Leber's tapeto retinal degeneration."[healio.com] Due to corneal and lens opacities and searching nystagmus, fundus pictures were of poor quality. Kidney biopsy showed four glomeruli.[healio.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 2

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] On examination he was noted to have nystagmus and an ataxic gait but there were no other abnormal findings.[academic.oup.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 12

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] On examination he was noted to have nystagmus and an ataxic gait but there were no other abnormal findings.[academic.oup.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 1

    Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration.[ncbi.nlm.nih.gov] We report on an 11-year-old boy with familial juvenile nephronophthisis type I associated with cerebellar ataxia and nystagmus, but not with ocular motor apraxia.[ncbi.nlm.nih.gov] 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] Due to corneal and lens opacities and searching nystagmus, fundus pictures were of poor quality. Kidney biopsy showed four glomeruli.[healio.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 13

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Due to corneal and lens opacities and searching nystagmus, fundus pictures were of poor quality. Kidney biopsy showed four glomeruli.[healio.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Primary Optic Atrophy

    Degeneration of retinal ganglion cells and their axons; bilateral subacute optic neuropathy, typically with simultaneous or rapidly sequential central or cecocentral visual[unboundmedicine.com] Strabismus and latent nystagmus are often present. Up slanting palpebral fissures and epicanthal folds have been noted. Visual acuity levels have not been reported.[disorders.eyes.arizona.edu] Radiographs reveal diffuse bone sclerosis, loss of the normal corticomedullary differentiation, dense homogeneous appearance due to abnormally increased bone density with[djo.org.in]

  • Kaufman Oculocerebrofacial Syndrome

    Senior-Løken syndrome (nephronophthisis and tapeto-retinal degeneration. Clin Nephrol. 1976;5(1):14-9. Senior B, Friedman AI, Braudo JL.[rarediseases.org] . * long thin hands & feet * eye abnormalities including shaky or wiggly eye movement (nystagmus) * unusually looking long narrow face * small head; those some persons have[signssymptoms.org] differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Accessory oral frenulum Pyelonephritis Frontal upsweep of hair Delayed eruption[mendelian.co]

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