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419 Possible Causes for Persistent Notochordal Canal, Small Optic Disc

  • Optic Atrophy-Intellectual Disability Syndrome

    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] 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] The optic discs are pale and may be small with excavation. Strabismus and latent nystagmus are often present.[disorders.eyes.arizona.edu]

  • Congenital Non-Progressive Ataxia

    Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy[ncbi.nlm.nih.gov] 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]

  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] […] of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc • Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia[rarediseases.org] Other findings included posterior embryotoxon (69%), isolated corneal nerves (3%), sclerocornea (3%), deep iris crypts (10%), tortuous retinal vessels (58%), small optic nerves[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Optic Disc Drusen

    Optic disc drusen were significantly associated with small optic discs (p 0.001).[ncbi.nlm.nih.gov] In addition, she had NVD in both eyes with a small optic disc haemorrhage in the left eye. The retinas appeared normal in both eyes.[nature.com] disc. 10 Our previous study demonstrated a small optic disc as a risk factor for ODD, indicating that axonal distress can be a triggering factor. 10 Therefore, tumors involving[journals.lww.com]

    Missing: Persistent Notochordal Canal
  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    Fundal examination revealed chorioretinal folds with an unusual appearance at the macula with optic disc crowding (Figs 1, 2, 3, 4, 5 ).[bjo.bmj.com] 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] […] of the optic nerve).[omicsonline.org]

  • Alpha-B Crystallinopathy

    […] round white spots in the posterior pole of the eye, including the areas of the macula and optic disc, appearing in early adult life 4 Fleck retina of Kandori, caused by mutations[centogene.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] […] choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye Doyne honeycomb degeneration of retina, caused by mutations in EFEMP1, characterized by small[centogene.com]

  • Isolated optic nerve hypoplasia

    An overgrowth of retinal pigment epithelium surrounding the small optic disc gives rise to the “double ring sign”.[pediatricneurologybriefs.com] ONH is a nonprogressive congenital disc anomaly characterized by a small optic disc with a double-ring sign.[e-tjo.org] […] nerve hypoplasia has recently been implicated in the pathogenesis of amblyopia although it is still not clear whether a small optic disc area is the cause for decreased vision[slideshare.net]

    Missing: Persistent Notochordal Canal
  • Non-Small Cell Lung Carcinoma

    A 79-year-old woman with known non-small cell lung carcinoma was admitted with a swollen optic disc in the right eye.[ncbi.nlm.nih.gov] To report a case and describe the clinical approach to a patient with a non-small cell lung carcinoma and paraneoplastic optic neuropathy. Case report.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Delirium

    Retinitis in these 11 eyes was characterized by peripheral involvement (no optic disc or macular involvement in 10 eyes), small lesion size ( 10% of retinal surface area in[jamanetwork.com]

    Missing: Persistent Notochordal Canal
  • Spontaneous Abortion

    After two months, fundus examination showed a small and crowded optic disc on the right and a pale optic disc on the left.[ncbi.nlm.nih.gov] On the sixth day, optic disc oedema regressed bilaterally and on the third week, the visual acuity improved to 20/80 in the left eye.[ncbi.nlm.nih.gov] The visual field showed only a small spared area in the nasal region, and persistent RAPD was present.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal

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