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611 Possible Causes for Loss of Ambulation between Third and Sixth Decade, Pallor of Optic Disc, Persistent Notochordal Canal

  • Optic Atrophy-Intellectual Disability Syndrome

    (Also known as/Synonyms) Atrophic Optic Nerve Optic Disc Pallor Excessive Optic Neuropathy What is Optic Nerve Atrophy?[dovemed.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] of optic disc, cataracts AD, AR, XLR Numerous Multiple RETINOBLASTOMA Leukcoria, strabismus, retinal detachment, glaucoma, pseudouveitis, proptosis, hyphema, orbital cellulitis[eyewiki.aao.org]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Limb-Girdle Muscular Dystrophy Type 2J

    notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Pallor of Optic Disc
  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    […] of the optic disc than in those showing normal appearance of the optic disc. [19] In conclusion, AAC may occur during periods of transient mydriasis caused by the administration[e-tjo.org] notochordal canal syndrome 4 Cases 794 Saethre-Chotzen syndrome 3.0 BP * 300493 Sagliker syndrome 60 Cases 140969 Saldino-Mainzer syndrome 10 Cases 370938 Salt-and-pepper[azkurs.org] , temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density ( Votruba et al., 1998 ).Some patients with mutations in the OPA1 gene may[mendelian.co]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] […] of optic disc eicd10 377.15 Partial optic atrophy Temporal pallor of optic disc eicd10 377.16 Hereditary optic atrophy Optic atrophy: dominant hereditary Leber's[icd9cm.chrisendres.com] CONCLUSIONS: Deeply buried ODD may be associated with NAION causing irreversible visual loss and optic disc pallor, a condition easily mistaken for atypical ON.[ncbi.nlm.nih.gov]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Primary Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] optic atrophy Inclusion term(s): Temporal pallor of optic disc H47.291 Other optic atrophy, right eye H47.292 Other optic atrophy, left eye H47.293 Other optic atrophy, bilateral[icd10coded.com] F igure 1. ( A ) Right optic disc of patient 6 with diffuse pallor and nerve fiber layer loss. ( B ) Left optic disc of patient 14 with wedge-shaped temporal pallor reminiscent[iovs.arvojournals.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Foster-Kennedy Syndrome

    The original description of the Foster Kennedy syndrome included the clinical triad of optic disc pallor in one eye, optic disc edema in the other eye, and reduced olfaction[ncbi.nlm.nih.gov] However, the right eye showed slight temporal pallor of the optic disc and a superior temporal field defect was found.[ncbi.nlm.nih.gov] An 11-year-old boy with a juvenile nasopharyngeal angiofibroma developed optic disc pallor in one eye and optic disc edema in the other eye (Foster Kennedy Syndrome [FKS])[ncbi.nlm.nih.gov]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Autosomal Dominant Optic Atrophy

    […] and temporal pallor of the optic disc.[jhu.pure.elsevier.com] RESULTS: All patients presented bilateral decrease in best-corrected visual acuity and temporal pallor of the optic disc.[ncbi.nlm.nih.gov] RESULTS: The affected individuals all presented with bilateral visual failure and temporal or total pallor of the optic discs.[ncbi.nlm.nih.gov]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Autosomal Dominant Optic Atrophy and Cataract

    Optic disc appearance of OPA1 -positive two patients showing bilateral prominent temporal wedge of pallor ( upper ) and total disc pallor ( lower ). ( C ) Optic disc appearance[iovs.arvojournals.org] Results: All patients presented bilateral decrease in best-corrected visual acuity and temporal pallor of the optic disc.[archive.org] The fundus examination revealed an increased cup-to-disc ratio with pallor on the left disc and a normal optic nerve on the right (See Figure 4A).[reviewofophthalmology.com]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Secondary Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] optic atrophy Inclusion term(s): Temporal pallor of optic disc H47.291 Other optic atrophy, right eye H47.292 Other optic atrophy, left eye H47.293 Other optic atrophy, bilateral[icd10coded.com] disc pallor seen in advanced glaucoma is due to a more excavated cup rather than pallor of the neuroretinal rim Temporal Optic Disc Pallor May be observed in traumatic or[decisionmakerplus.net]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Spinocerebellar Ataxia Type 1

    On funduscopy, there were small drusen around the fovea and mild temporal optic disc pallor (Fig. 3).[journals.lww.com] disc pallor 0000543 Scanning speech Explosive speech 0002168 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Spinocerebellar atrophy 0007263 Spinocerebellar[rarediseases.info.nih.gov] Fundus examination demonstrates macular pigmentary changes, sometimes associated with mild temporal optic disc pallor ( 5 ).[journals.lww.com]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal

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