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550 Possible Causes for Mutation in the TTLL5 Gene, Pallor of Optic Disc

  • 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] […] 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] 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]

    Missing: Mutation in the TTLL5 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 atrophy Inclusion term(s): Temporal pallor of optic disc H47.291 Other optic atrophy, right eye H47.292 Other optic atrophy, left eye H47.293 Other optic atrophy, bilateral[icd10coded.com] 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 TTLL5 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] 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]

    Missing: Mutation in the TTLL5 Gene
  • Autosomal Dominant Optic Atrophy

    […] and temporal pallor of the optic disc.[jhu.pure.elsevier.com] 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]

    Missing: Mutation in the TTLL5 Gene
  • 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] […] of optic disc, cataracts AD, AR, XLR Numerous Multiple RETINOBLASTOMA Leukcoria, strabismus, retinal detachment, glaucoma, pseudouveitis, proptosis, hyphema, orbital cellulitis[eyewiki.aao.org] disc pallor Very Common - Between 80% and 100% cases Tapered finger Very Common - Between 80% and 100% cases Other less frequent symptoms Patients with NR2F1 gene alterations[mendelian.co]

    Missing: Mutation in the TTLL5 Gene
  • Cone Rod Dystrophy Type 15
  • Spinocerebellar Ataxia Type 1

    On funduscopy, there were small drusen around the fovea and mild temporal optic disc pallor (Fig. 3).[journals.lww.com] disc pallor 0000543 Scanning speech Explosive speech 0002168 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Spinocerebellar atrophy 0007263 Spinocerebellar[rarediseases.info.nih.gov] Fundus examination demonstrates macular pigmentary changes, sometimes associated with mild temporal optic disc pallor ( 5 ).[journals.lww.com]

    Missing: Mutation in the TTLL5 Gene
  • 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] disc pallor Microdontia Ovoid vertebral bodies Abnormality of the optic nerve Infra-orbital crease Abnormality of upper lip Molar tooth sign on MRI Cephalocele Deep philtrum[mendelian.co]

    Missing: Mutation in the TTLL5 Gene
  • Leber Congenital Amaurosis Type 9

    Examination of the posterior segment of the eye showed optic disc pallor, retinal vascular attenuation, varying degrees of macular staphyloma, widespread pigmentary disturbance[nature.com] Most patients present optic disc pallor, vascular attenuation and pigmentary retinal changes.[wjgnet.com] Patients can develop peripheral mild pigmentary changes, optic disc pallor and vascular attenuation[ 69 ].[wjgnet.com]

    Missing: Mutation in the TTLL5 Gene
  • Hyper IgD Syndrome

    BACKGROUND: Classical type hyper-immunoglobulin D (IgD) syndrome (HIDS) is an hereditary auto-inflammatory disorder, characterized by recurrent episodes of fever, lymphadenopathy, abdominal distress and a high serum concentration of IgD. It is caused by mevalonate kinase deficiency. OBJECTIVE: To further[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the TTLL5 Gene

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