Mathieu F. Bakhoum

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Title: Cone Function in USH2A-associated Retinal Degeneration is More Attenuated in Patients with Hearing Loss PURPOSE: Mutations in Usherin 2A (USH2A) can cause Usher syndrome (USH), which manifests as retinitis pigmentosa (RP) with bilateral neurosensory hearing loss, or autosomal recessive non-syndromic RP (NSRP). Few studies have characterized natural(More)
PURPOSE To report a novel synonymous mutation in CHM and the associated phenotype in an affected man and carrier mother. METHODS Case report. RESULTS A 34-year-old man with a long history of progressive night blindness and visual field constriction was diagnosed with choroideremia based on ocular examination and multimodal retinal imaging. Extensive(More)
PURPOSE To describe a patient with a PITPNM3 missense mutation who developed late-onset autoimmune retinopathy. METHODS Case report. RESULTS An 85-year-old man presented with decreased vision, nyctalopia, and photoaversion after an uncomplicated cataract surgery. Multimodal retinal imaging revealed a scalloped pattern of atrophy and a ring of(More)
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