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21 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Progressive Retinitis Pigmentosa

  • Usher Syndrome Type 1K

    Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov] 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]

  • Retinitis pigmentosa 40

    Year 1996 Retinitis pigmentosa (RP) refers to a group of related diseases that tend to run in families and cause slow but progressive loss of vision.[retinaldiagnostic.com] 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]

  • Usher Syndrome Type 1

    retinitis pigmentosa.[eric.ed.gov] 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]

  • Usher Syndrome Type 1D

    Usher syndrome (USH) is a group of autosomal recessive sensory disorders characterized by progressive retinitis pigmentosa (RP) and sensorineural hearing impairment.[ncbi.nlm.nih.gov] 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]

  • Usher Syndrome Type 2A

    retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.[zfin.org] An eye fundus examination ( Figure 3 ) showed bone spicule deposits, attenuation of vessels, and a waxy pallor of the optic nerve head.[molvis.org] Usher syndrome type I should be suspected in individuals with: Congenital (i.e., prelingual) profound bilateral sensorineural hearing loss No significant vestibular responses[centogene.com]

  • Usher Syndrome Type 1J

    USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness[genecards.org] 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]

  • Retinitis Pigmentosa 23

    April 2014 Volume 55, Issue 13 Free ARVO Annual Meeting Abstract April 2014 Progression of Pro23His Retinopathy in a Miniature Swine Model of Retinitis Pigmentosa Author Affiliations[iovs.arvojournals.org] 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]

  • Usher Syndrome Type 3B

    […] two reseptors dystrophy, rod dystrophy and con dystrophy Reinitis Pigmentosa is progressive Retinitis Pigmentosa can result in blindness Retinitis Pigmentosa can be systemic[down-syndrome-facts-and-fiction.com] These include pigment dispersion, which means that some parts appear lighter than others, followed by "bone spicules" which are little jagged spots.[boystownhospital.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]

  • Refsum Disease

    A 55-y old Caucasian female with hyperextensible joints developed progressive visual impairment due to retinitis pigmentosa and sensorimotor polyneuropathy of the lower limbs[ncbi.nlm.nih.gov] 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]

  • Usher Syndrome 3A

    An autosomal recessive condition characterized by sensorineural hearing loss and progressive loss of vision due to retinitis pigmentosa.[medical-dictionary.thefreedictionary.com] These include pigment dispersion, which means that some parts appear lighter than others, followed by "bone spicules" which are little jagged spots.[boystownhospital.org] , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com]

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