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409 Possible Causes for Mutation in the MTND4 Gene, Optic Disc Pallor

  • Leber's Hereditary Optic Neuropathy

    The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON, were found in one family each.[ncbi.nlm.nih.gov] Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye.[ncbi.nlm.nih.gov] After subsequent development of bilateral optic disc pallor, we concluded that the patient had LHON. mtDNA analysis was conducted using non-radioisotopic single-strand conformational[ncbi.nlm.nih.gov]

  • Night Blindness

    disc pallor.[disorders.eyes.arizona.edu] Evidence of optic atrophy with waxy pallor of the disc is usually visible. High myopia ( 6 diopters) is frequently present.[disorders.eyes.arizona.edu] Retinal thinning, bone spicule pigmentation, vascular attenuation, optic disc pallor, and pigmentary atrophy have all been noted.[disorders.eyes.arizona.edu]

    Missing: Mutation in the MTND4 Gene
  • Optic Atrophy

    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] […] field defects and optic disc pallor.[ncbi.nlm.nih.gov] The histopathological hallmark of DOA is the primary degeneration of retinal ganglion cells, preferentially in the papillomacular bundle, which results temporal optic disc[ncbi.nlm.nih.gov]

    Missing: Mutation in the MTND4 Gene
  • 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] 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] The right optic nerve head showed less disc edema but the optic disc pallor became evident at this time [Figure 2] a.[mjdrdypu.org]

    Missing: Mutation in the MTND4 Gene
  • Purtscher's Retinopathy

    The most common chronic signs were optic disc pallor and atrophy of the retinal pigment epithelium.[ncbi.nlm.nih.gov] The optic disc may appear normal initially but an afferent pupillary defect may be present and later on optic disc pallor may develop.[djo.org.in] But there was optic disc pallor in the right eye along with RAPD (Figure-3).[djo.org.in]

    Missing: Mutation in the MTND4 Gene
  • Autosomal Dominant Optic Atrophy

    These patients typically present in the first decade of life with slightly subnormal acuity, dyschromatopsia, central visual field loss, and optic disc pallor.[practicalreviews.com] Optic Atrophy 1 Clinical Characteristics Ocular Features: This form of bilateral optic atrophy may have its onset in early childhood with optic disc pallor, loss of acuity[disorders.eyes.arizona.edu] Optic disc pallor is one of the defining characteristics of Dominant Optic Atropy.[webeye.ophth.uiowa.edu]

    Missing: Mutation in the MTND4 Gene
  • Jalili Syndrome

    Affected individuals commonly suffer from photophobia, nystagmus, achromatopsia, night vision difficulties, optic disc pallor, narrow vessels, macular atrophy with pigment[scitechnoljournals.wordpress.com] Other symptoms affecting vision may include night vision difficulties; optic disc pallor; narrow vessels; macular atrophy with pigment mottling; peripheral deep white dot[en.wikipedia.org] Other symptoms affecting vision may include night vision difficulties; [2] optic disc pallor; narrow vessels; macular atrophy with pigment mottling; peripheral deep white[ipfs.io]

    Missing: Mutation in the MTND4 Gene
  • Optic Neuritis

    Bilateral optic neuritis occurred in 10. Optic disc pallor was found in 35%, edema in 46%, and 19% had normal fundus.[ncbi.nlm.nih.gov] disc pallor and/or optic disc swelling relative afferent pupillary defect detected by the swinging light test in the affected eye, the pupil will dilate with direct illumination[medbullets.com] disc pallor.[doi.org]

    Missing: Mutation in the MTND4 Gene
  • Strabismus

    […] or optic disc pallor.[ncbi.nlm.nih.gov] Nine of 13 patients with congenital optic disc pathologies had esotropia, whereas 10 of 15 patients with optic atrophy or optic disc pallor had exotropia.[ncbi.nlm.nih.gov] Six (21.4%) patients had temporal disc pallor, six (21.4%) patients had optic nerve hypoplasia, and seven (25%) patients had other optic disc anomalies (tilted disc, megalodisc[ncbi.nlm.nih.gov]

    Missing: Mutation in the MTND4 Gene
  • Optic Nerve Glioma

    Course: In summary, this is an 8-year-old patient with a known history of NF1 now with acute awareness of complete vision loss, OS, with associated optic disc pallor and edema[eyerounds.org] Funduscopy revealed right optic disc pallor. Examination of the left eye was unremarkable.[journals.lww.com] Magnetic resonance imaging (MRI) of the head and orbit was obtained to investigate a possible optic nerve or intracranial tumor.[eyerounds.org]

    Missing: Mutation in the MTND4 Gene

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