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13 Possible Causes for Defective Color Vision in Some Patients, Mutation in the TTLL5 Gene

  • Peripheral Cone Dystrophy

    Molecular validation of the candidate variants The novel mutation in the TTLL5 gene (c.182–3_182–1delinsAA) was validated using conventional Sanger sequencing according to[molvis.org] […] in color vision.[disorders.eyes.arizona.edu] Usually VFT shows the specific tunnel vision of RP patients very clearly.[retinitispigmentosacure.com]

  • Optic Neuropathy

    In periaxial neuritis (peripheral type) there is peripheral visual field loss, expecially bitemporal defects, whith sparing of visual acuity and red-green color vision impairment[epomedicine.com] Visual acuity, color vision and visual field usually improve slowly once ethambutol is discontinued; however, some patients particularly but not exclusive those in whom optic[epomedicine.com]

    Missing: Mutation in the TTLL5 Gene
  • Retrobulbar Neuritis

    You will look at visual acuity, color vision and presence of a relative afferent pupillary defect.[healio.com] Some form of perimetry is important to document the level of optic nerve involvement.[healio.com] Golnik: In either group, I think you are going to examine the patient to make sure that they have an optic nerve problem, of course.[healio.com]

    Missing: Mutation in the TTLL5 Gene
  • Membranoproliferative Glomerulonephritis

    Examination - DDD Some patients with DDD will have:  mild visual field  color defects  prolonged dark adaptation  mottled retinal pigmentation (drusen bodies)  sometimes[de.slideshare.net] […] deterioration of vision. Eye examinations should be performed on first presentation and annually thereafter including:  dark adaptation,  electroretinography,  electro-oculography[de.slideshare.net]

    Missing: Mutation in the TTLL5 Gene
  • Occult Macular Dystrophy

    […] in color vision is found in many patients, although some show a blue-yellow defect.[centrallakesclinic.biz] […] focal macular ERG has a depolarizing pattern (the on type; Fig. 2.136), and the good preservation of rod function in the macula may be related to this property.A red-green defect[centrallakesclinic.biz]

    Missing: Mutation in the TTLL5 Gene
  • Retinitis Pigmentosa Type 4

    Usually VFT shows the specific tunnel vision of RP patients very clearly.[retinitispigmentosacure.com] Ophthalmoscopy : an ophthalmologist examines the eye with a special magnifying glass Color defectiveness test : some of the RP patients have serious problems with identifying[retinitispigmentosacure.com]

    Missing: Mutation in the TTLL5 Gene
  • Cone Rod Dystrophy
    Missing: Defective Color Vision in Some Patients
  • Retinal Dystrophy

    Our study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these[ncbi.nlm.nih.gov]

    Missing: Defective Color Vision in Some Patients
  • Macular Dystrophy with Central Cone Involvement

    […] in color vision is found in many patients, although some show a blue-yellow defect.[centrallakesclinic.biz] […] focal macular ERG has a depolarizing pattern (the on type; Fig. 2.136), and the good preservation of rod function in the macula may be related to this property.A red-green defect[centrallakesclinic.biz]

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

    Color vision is variably defective and central scotomas are present.[disorders.eyes.arizona.edu] Systemic Features: Some but not all patients have additional neurological signs including absent ankle jerks, hyperactive knee jerks, extensor plantar reflexes, dysarthria[disorders.eyes.arizona.edu]

    Missing: Mutation in the TTLL5 Gene

Further symptoms