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UNEXPLAINED VISUAL LOSS

UNEXPLAINED VISUAL LOSS. Neuro-ophthalmology Service Wills Eye Hospital Philadelphia, Pensylvania USA Survey of Ophthalmology 48(6) 626-630. HISTORY:. 20y, male, reduced VA 8y: myopia/ ‘eyes not perfect’ 17y: low VA Retina specialist+ neuroophth. VF, FFA, Fundoscopy, MRI: normal

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UNEXPLAINED VISUAL LOSS

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  1. UNEXPLAINED VISUAL LOSS Neuro-ophthalmology Service Wills Eye Hospital Philadelphia, Pensylvania USA Survey of Ophthalmology 48(6) 626-630

  2. HISTORY: 20y, male, reduced VA 8y: myopia/ ‘eyes not perfect’ 17y: low VA Retina specialist+ neuroophth. VF, FFA, Fundoscopy, MRI: normal No medication/ No toxic exposure Negative family eye history Well balanced diet No tobacco/ occasional alcohol

  3. CLINICAL EXAMINATION: VA: 6/12 R, 6/18L (-2.5 -0.5 90°) Pupils: brisk reactions/ No RAPD Ishihara: 6/10R, 7/10L Orthophoria D/N Full ductions/ versions Normal ant. segment IOP:14 R+L Fundus: tilted discs+ mild temporal pallor+ thinned papillomacular bundle VF: subtle cecocentral scotoma R+L

  4. DD: • COMPRESSION/ INFILTRATION • DEMYELINATION • DOA • TOXIC NEUROPATHY • MACULAR DISEASE (CONE DYSTROPHY)

  5. DIRECT QUESTIONING FOR: • Endocrine dysfunction • MS • NF1

  6. DIAGNOSTIC WORKUP: • MRI (fat supression, FLAIR, contrast) • F-M 100: tritan axis • LP • ERG

  7. DIAGNOSIS: DOA PROGNOSIS: VA gradual  with age but most >3/60 No recovery No Rx Good longterm

  8. DISCUSSION I: • CRITERIA: • AD • INSIDIOUS ONSET <10y • Bilateral mild to moderate/ asymmetric • Central, para- or centrocecal scotoma (subtle),pseudobitemp. hemianopia • Aquired tritan dyschromatopsia (94%) • Temporal disc pallor/ excavation (triangular)

  9. DISCUSSION CONT.: Commonest heretodegenerative opt. neuropathy: 1:10,000 Inter/intra-familial variation in VA Mental retardation Nystagmus Hearing loss Ganglion cell degeneration/ ascending atrophy OPA1 gene: GTP-ase (mitoch. Biogenesis/membrane integrity)

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