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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[] disc pale and large excavation, no MRI brain peformed NR2F1 NR2F1 1 1 Johan den Dunnen Legend[] 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[]

  • Congenital Optic Disc Coloboma

    […] along the temporal margin of optic disc.[] optic disc with no anatomic defects.[] […] 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[]

    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[] Congenital Optic Disc Anomalies Associated with Normal or Large Discs Congenital optic nerve anomalies associated with normal or large optic disc include megalopapilla, morning[] 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[]

    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.[] ( 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[] […] 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[]

    Missing: Mutation in the NR2F2 Gene
  • Normal-Tension Glaucoma

    In primary open angle glaucoma, small and large optic discs were found equally frequently.[] Congenital disc abnormalities Physiologically large cups with no field loss Congenital disc anomalies with field loss such as coloboma or optic disc drusen 3.[] 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.[]

    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[] The anterior limit of the retinoschisis seldom extends to the ora serrata, and the posterior limit may extend to the optic disc.[] Nerve fiber layer breaks are common and appear as large round or oval holes ( Fig. 14.2 ).[]

    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[] 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[] Ophthalmologic investigations comprised of visual field assessments, intraocular pressure measurements, optic disc evaluation, and gonioscopy.[]

    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.[] PCD was calculated as the ratio of pixels associated with capillaries to the pixels in the annulus after large blood vessel removal.[]

    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.[] 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[] large cup/disc ratio or a focal rim notch.[]

    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[] Megalopapilla Megalopapilla is a generic term used for large optic discs without other significant abnormalities.[] 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[]

    Missing: Mutation in the NR2F2 Gene

Further symptoms