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277 Possible Causes for Large Optic Discs, Mutation in the NR2F2 Gene

  • Optic Atrophy-Intellectual Disability Syndrome

    Syndromes Bosch-Boonstra-Schaaf optic atrophy syndrome Genetic Category Rare Single Gene Mutation, Syndromic Associated Disorders EPS, ID, ASD, ADHD, DD/NDD Relevance to[gene.sfari.org] disc pale and large excavation, no MRI brain peformed NR2F1 NR2F1 1 1 Johan den Dunnen Legend[databases.lovd.nl] Autism Reports / Total Reports 5 / 11 Rare Variants / Common Variants 34 / 0 Aliases NR2F1, BBOAS, BBSOAS, COUP-TFI, EAR-3, EAR3, ERBAL3, NR2F2, SVP44, TCFCOUP1, TFCOUP1 Associated[gene.sfari.org]

  • 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: Mutation in the NR2F2 Gene
  • 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: Mutation in the NR2F2 Gene
  • 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: Mutation in the NR2F2 Gene
  • 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: Mutation in the NR2F2 Gene
  • 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: Mutation in the NR2F2 Gene
  • Open-Angle Glaucoma

    optic disc with large cup:disc ratio; should be symmetric) Myopia (optic discs can be very difficult to assess, and may be associated visual field defects which are not generally[eyewiki.aao.org] The disc size may be large Optic disc drusen Optic disc coloboma Anomalous optic disc Tilted disc Ischemic optic neuropathy Retinal diseases causing similar visual field defects[ncbi.nlm.nih.gov] Ophthalmologic investigations comprised of visual field assessments, intraocular pressure measurements, optic disc evaluation, and gonioscopy.[ncbi.nlm.nih.gov]

    Missing: Mutation in the NR2F2 Gene
  • Exfoliation Syndrome

    Two concentric circles with 1.95-mm (inner) and 3.45-mm (outer) diameters were placed manually, producing an annulus of width 0.75 mm centered at the optic disc.[ncbi.nlm.nih.gov] PCD was calculated as the ratio of pixels associated with capillaries to the pixels in the annulus after large blood vessel removal.[ncbi.nlm.nih.gov]

    Missing: Mutation in the NR2F2 Gene
  • Glaucoma

    Clinical variables associated with glaucomatous injury in eyes with large optic disc cupping. Ophthalmic Surg Lasers Imaging. 2005;36:401-409. 32.[ajmc.com] Unfortunately, there’s no published data telling us what exactly to do in any given anomalous optic disc situation, so most of us will probably start by making the more conservative[reviewofophthalmology.com] large cup/disc ratio or a focal rim notch.[doi.org]

    Missing: Mutation in the NR2F2 Gene
  • Isolated optic nerve hypoplasia

    MEGALOPAPILLA  Megalopapilla is a generic term that connotes an abnormally large optic disc that lacks the inferior excavation of optic disc coloboma or the numerous anomalous[slideshare.net] Megalopapilla Megalopapilla is a generic term used for large optic discs without other significant abnormalities.[nature.com] Arch Ophthalmol 117: 880-884. [ Crossref ] Jacobson L, Hellström A, Flodmark O (1997) Large cups in normal-sized optic discs: a variant of optic nerve hypoplasia in children[oatext.com]

    Missing: Mutation in the NR2F2 Gene

Further symptoms