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538 Possible Causes for Mutation in the MTAP6 Gene, Optic Disc Pallor

  • Leber's Hereditary Optic Neuropathy

    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] After three months of follow-up, visual acuity was CF in both eyes, bilateral pupillary light reflexes within normal limits and optic disc pallor was noticed in both eyes.[ncbi.nlm.nih.gov]

  • 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 MTAP6 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 MTAP6 Gene
  • 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 MTAP6 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 MTAP6 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 MTAP6 Gene
  • Primary Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] Optic disc pallor is one of the defining characteristics of Dominant Optic Atropy.[webeye.ophth.uiowa.edu] F igure 1. ( A ) Right optic disc of patient 6 with diffuse pallor and nerve fiber layer loss. ( B ) Left optic disc of patient 14 with wedge-shaped temporal pallor reminiscent[iovs.arvojournals.org]

    Missing: Mutation in the MTAP6 Gene
  • Toxic Retinopathy

    disc pallor .[ejournalofophthalmology.com] disc pallor after few weeks to months. 16.[slideshare.net] At this point, attenuation of retinal arterioles and optic disc pallor will be evident [6] . Hydroxychloroquine keratopathy presents as an intraepithelial deposit.[eyewiki.aao.org]

    Missing: Mutation in the MTAP6 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 MTAP6 Gene
  • Spasmus Nutans

    Likewise, afferent pupillary defects and even mild optic disc pallor can be missed, especially in a non-cooperative child.[healio.com] Warning signs to look for that might warrant a more hasty referral for brain MRI would be any evidence of optic nerve dysfunction such as optic disc pallor or relative afferent[eyewiki.aao.org] disc edema/pallor or an obvious afferent pupillar defect.[healio.com]

    Missing: Mutation in the MTAP6 Gene

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