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656 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Mutation in the PEX7 Gene

  • 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] Furthermore, we identified mutations in the PEX7 gene.[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: Mutation in the PEX7 Gene
  • Retinitis Pigmentosa

    spicules.[ncbi.nlm.nih.gov] . • Adult Refsum disease caused by mutation in the gene encoding phytanoyl-CoA hydroxylase ( PAHX or PHYH ) or the gene encoding peroxin-7 ( PEX7 ) presents with highly elevated[doi.org] Dilated funduscopy also showed bone spicule-like pigmented deposits, typical for retinitis pigmentosa.[ncbi.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • 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: Mutation in the PEX7 Gene
  • Retinitis Pigmentosa 32

    There are bone spicules and peripheral pigment degeneration extending inside the arcades, again not much different from the photos in 2003.[retinagallery.com] […] in th TTPA gene and treatable by the administration of vitamin E Refsum disease , caused by mutations in the PHYH or PEX7 and treatable with dietary reduction of phytanic[bredagenetics.com] Diagnosis RETINITIS PIGMENTOSA (RP) •History •Bone-spicule pigment •Waxy pale optic disc 11.[slideshare.net]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Infantile Refsum Disease

    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] ; however 55% of cases are now attributed to mutations in other genes. [13] Refsum disease 2 stems from mutations in the peroxin 7 (PEX7) gene. [1] [10] This mutation on the[en.wikipedia.org] Usher syndrome type II is characterized by: congenital, bilateral, sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the[ncbi.nlm.nih.gov]

    Missing: Bone Spicules
  • 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: Mutation in the PEX7 Gene
  • 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: Mutation in the PEX7 Gene
  • Retinitis Pigmentosa 37

    Ophthalmoscopy revealed macular atrophy, as well as bone spicule pigmentations, attenuated retinal vessels and waxy pallor of the optic disc.[iovs.arvojournals.org] […] in th TTPA gene and treatable by the administration of vitamin E Refsum disease , caused by mutations in the PHYH or PEX7 and treatable with dietary reduction of phytanic[bredagenetics.com] Retinal thinning, bone spicule pigmentation, vascular attenuation, optic disc pallor, and pigmentary atrophy have all been noted.[disorders.eyes.arizona.edu]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • 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: Mutation in the PEX7 Gene

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