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550 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Phytanic Acid Oxidase Activity Decreased

  • Refsum Disease

    Bone spicule retinopathy is a universal and usually early sign in RD.[doi.org] Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital, bilateral, profound sensorineural deafness, vestibular areflexia[ncbi.nlm.nih.gov] Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital , bilateral, profound sensorineural deafness, vestibular areflexia[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1K

    The fundoscopic finding of both eyes showed typical pigmentary degeneration with multiple bone spicule pigmentations in over the entire retina, attenuated retinal vessels,[mafiadoc.com] Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

    Missing: Phytanic Acid Oxidase Activity Decreased
  • Retinitis pigmentosa 40

    Symptoms - Retinitis pigmentosa Mottling of the retinal pigment epithelium with black bone-spicule pigmentation is typically indicative (or pathognomonic) of retinitis pigmentosa[checkorphan.org] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] Retinal hyperpigmentation in bone spicules at mid-periphery. Pigment clumping in macular area. Extensive atrophy of retinal pigment epithelium.[journalretinavitreous.biomedcentral.com]

    Missing: Phytanic Acid Oxidase Activity Decreased
  • Usher Syndrome Type 1

    On fluorescein angiography, both eyes showed diffuse hyperfluorescence due to pigment epithelial atrophy together with hypofluorescence, corresponding to bone spicule pigment[jamanetwork.com] , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

    Missing: Phytanic Acid Oxidase Activity Decreased
  • Usher Syndrome Type 1J

    Similar to other types of retinitis pigmentosa, fundus features include peripheral retinal atrophy with bone-spicule-like pigmentation, vascular attenuation, and waxy-pallor[webeye.ophth.uiowa.edu] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] Attenuation of retinal vessles, bone spicules in midperiphery, and waxy pallor of optic nerve head.[healio.com]

    Missing: Phytanic Acid Oxidase Activity Decreased
  • Retinitis Pigmentosa

    spicules.[ncbi.nlm.nih.gov] Dilated funduscopy also showed bone spicule-like pigmented deposits, typical for retinitis pigmentosa.[ncbi.nlm.nih.gov] The two siblings had night blindness for a long time, and clinical examinations revealed diffuse retinal degeneration with bone spicule pigmentation, constriction of the visual[ncbi.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss Phytanic Acid Oxidase Activity Decreased
  • Usher Syndrome Type 1D

    Color montage of the right (A) and left (B) eyes showing bone spicule pigmentary changes in the inferior periphery. The right eye is slightly worse than the left.[healio.com] Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

    Missing: Phytanic Acid Oxidase Activity Decreased
  • Tietz Syndrome

    From Wikidata Jump to navigation Jump to search monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like[wikidata.org] Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal.[orpha.net] profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on[wikidata.org]

    Missing: Bone Spicules Phytanic Acid Oxidase Activity Decreased
  • Retinitis Pigmentosa 23

    Diagnosis RETINITIS PIGMENTOSA (RP) •History •Bone-spicule pigment •Waxy pale optic disc 11.[slideshare.net] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] Signs Dispersion and aggregation of retinal pigment produce changes ranging from granules or mottling to distinctive focal aggregates with the appearance of bone spicules.[patient.info]

    Missing: Phytanic Acid Oxidase Activity Decreased
  • Pigmented Paravenous Retinochoroidal Atrophy

    A 68-year-old man with patchy paravenous zones of retinal degeneration with bone spicule pigmentation OU was diagnosed as having pigmented paravenous retinochoroidal atrophy[ncbi.nlm.nih.gov] Funduscopic examination revealed bone-spicule pigmentation and choroidal and retinal pigment epithelium atrophy along the vascular arcades, with macular involvement in right[ncbi.nlm.nih.gov] Pigmented paravenous retinochoroidal atrophy is an ocular disease characterized by outer retina and choroidal atrophy often with overlying intraretinal bone spicule pigment[ncbi.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss Phytanic Acid Oxidase Activity Decreased

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