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332 Possible Causes for Large Optic Discs, Loss of Ambulation between Third and Sixth Decade, Persistent Notochordal Canal

  • Optic Atrophy-Intellectual Disability Syndrome

    disc pale and large excavation, no MRI brain peformed NR2F1 NR2F1 1 1 Johan den Dunnen Legend[databases.lovd.nl] 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] disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch 00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016[databases.lovd.nl]

    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: Large Optic Discs
  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    Figure 2: Glaucomatous optic neuropathy with large cup/disc ratio in optic disc; retinal photographs after acute angle closure remission in the affected eye of the patient[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] Rotor syndrome 50 Cases 83616 Rubella panencephalitis 20 Cases 783 Rubinstein-Taybi syndrome 0.7 BP * 397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[azkurs.org]

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

    […] ratio (optic disc cup diameter greater than ½ of optic disc diameter) Physiologically large optic disc cups, BUT...neuroretinal rim is not thinned and cup is not vertically[kellogg.umich.edu] Congenital Optic Disc Anomalies Associated with Normal or Large Discs Congenital optic nerve anomalies associated with normal or large optic disc include megalopapilla, morning[karger.com] In contrast to glaucoma, the optic disc in ODC is typically very large, whitish, with excavated optic nerve head inferiorly, absent inferior rim and thin rim tissue superiorly[njcponline.com]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Congenital Optic Disc Coloboma

    […] along the temporal margin of optic disc.[iovs.arvojournals.org] optic disc with no anatomic defects.[oxfordmedicine.com] […] showing a large chorioretinal coloboma, which is fused to an optic disc coloboma. ( B ) Fundus photograph of the left eye of the same patient showing optic disc coloboma[iovs.arvojournals.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    The retinal vessels and optic disc appeared normal ( Fig. 2A, B ).[synapse.koreamed.org] 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] Fluorescein angiography showed hypofluorescence with large, visible choroidal vessels in areas showing retinal pigment epithelial and choriocapillaris atrophy ( Fig. 2C, D[synapse.koreamed.org]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Congenital Non-Progressive Ataxia

    disc examination and visual field testing when possible.[eyewiki.aao.org] 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] Tinted or photocromic lenses can be used to reduce light sensitivity associated with the large papillary aperture.[eyewiki.aao.org]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Normal-Tension Glaucoma

    In primary open angle glaucoma, small and large optic discs were found equally frequently.[ncbi.nlm.nih.gov] Congenital disc abnormalities Physiologically large cups with no field loss Congenital disc anomalies with field loss such as coloboma or optic disc drusen 3.[macfarlaneoptometrist.com.au] It is possible that in some eyes large optic discs are vulnerable to even low intraocular pressures due to qualitative properties of the extracellular matrix.[ncbi.nlm.nih.gov]

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

    PCR if the total size of foci is large ( 2 optic disc diameters); and (iii) WB, which would be optimal when sampling occurs more than 30 days after the onset of symptoms.[dx.doi.org] ( 2 optic disc diameters); (ii) the use of the GWC beyond 10 days if old scars are present and/or if the reaction in the anterior chamber is mild to severe, associated with[dx.doi.org] […] priority for the use of real-time PCR during the 10 days following the onset of symptoms, especially if the patient is immunocompromised or if the total size of the foci is large[dx.doi.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Non-Syndromic Ocular Stickler Syndrome Type 1 

    High-risk characteristics include: NVD greater than or equal to one fourth to one third of a disc area (one quarter of a disc area in eyes with large optic discs and one third[cehjournal.org] The anterior limit of the retinoschisis seldom extends to the ora serrata, and the posterior limit may extend to the optic disc.[entokey.com] Nerve fiber layer breaks are common and appear as large round or oval holes ( Fig. 14.2 ).[entokey.com]

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