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371 Possible Causes for Pallor of Optic Disc

  • Optic Atrophy-Intellectual Disability Syndrome

    (Also known as/Synonyms) Atrophic Optic Nerve Optic Disc Pallor Excessive Optic Neuropathy What is Optic Nerve Atrophy?[dovemed.com] Last updated Dec. 13, 2018 Optic Nerve Atrophy (ONA) is a permanent visual impairment that occurs, when the optic nerve is damaged or injured.[dovemed.com]

  • Spinocerebellar Ataxia Type 1

    disc pallor 0000543 Scanning speech Explosive speech 0002168 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Spinocerebellar atrophy 0007263 Spinocerebellar[rarediseases.info.nih.gov] On funduscopy, there were small drusen around the fovea and mild temporal optic disc pallor (Fig. 3).[journals.lww.com] Diminished vibratory sense Impaired vibratory sense [ more ] 0002495 Limb ataxia 0002070 Muscular hypotonia Low or weak muscle tone 0001252 Olivopontocerebellar atrophy 0002542 Optic[rarediseases.info.nih.gov]

  • Kaufman Oculocerebrofacial Syndrome

    disc pallor 0000543 Ovoid vertebral bodies 0003300 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Single transverse palmar crease 0000954 Sparse and[rarediseases.info.nih.gov] disc pallor Not very common - Between 30% and 50% cases Microdontia Commonly - More than 50% cases Specific learning disability Not very common - Between 30% and 50% cases[mendelian.co] […] callosum 0002079 Intestinal malrotation 0002566 Laryngeal stridor 0006511 Long palm 0011302 Metatarsus adductus Front half of foot turns inward 0001840 Narrow palm 0004283 Optic[rarediseases.info.nih.gov]

  • Hyper IgD Syndrome

    Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by recurrent episodes of fever accompanied with lymphadenopathy, abdominal distress, joint involvement and skin lesions. All patients have high serum IgD values ( 100[…][ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    disc pallor 0000543 Patent ductus arteriosus 0001643 Pigmentary retinopathy 0000580 Posteriorly rotated ears Ears rotated toward back of head 0000358 Prolonged neonatal jaundice[rarediseases.info.nih.gov] […] flattening 0000272 Metatarsus adductus Front half of foot turns inward 0001840 Muscular hypotonia Low or weak muscle tone 0001252 Opacification of the corneal stroma 0007759 Optic[rarediseases.info.nih.gov]

  • Usher Syndrome Type 3B

    By Pranav Parikh Usher syndrome type 3 is an inherited disease in which an individual is born with typical hearing and develops hearing loss in the stages of early childhood. They will most likely develop complete hearing loss by the time they are an adult. Though cases of Usher syndrome type 3 (and its subtypes)[…][hearinghealthfoundation.org]

  • Leber Congenital Amaurosis Type 9

    @inproceedings{Coppieters2015HiddenGV, title {Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1 }, author {Frauke Coppieters and Anne Laure Todeschini and Takuro Fujimaki and Annelot Baert and Marieke De Bruyne and Caroline Van[…][semanticscholar.org]

  • 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] However, the right eye showed slight temporal pallor of the optic disc and a superior temporal field defect was found.[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]

  • 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] Abstract Neuro-ophthalmologists typically observe a temporal pallor of the optic disc in patients with multiple sclerosis.[ncbi.nlm.nih.gov] […] of optic disc eicd10 377.15 Partial optic atrophy Temporal pallor of optic disc eicd10 377.16 Hereditary optic atrophy Optic atrophy: dominant hereditary Leber's[icd9cm.chrisendres.com]

  • Autosomal Dominant Optic Atrophy

    RESULTS: All patients presented bilateral decrease in best-corrected visual acuity and temporal pallor of the optic disc.[ncbi.nlm.nih.gov] RESULTS: The affected individuals all presented with bilateral visual failure and temporal or total pallor of the optic discs.[ncbi.nlm.nih.gov] 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]

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