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23 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Deafness

  • Usher Syndrome Type 1K

    I’m deaf as well. So, I am hosting a deaf social since last year.[deafread.com] 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]

  • 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] الصفحة 108 - Mutation in mitochondrial tRNAIeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. ‏[books.google.com]

  • 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] One mutation in CIB2 is a prevalent cause of deafness DFNB48 in Pakistan; other CIB2 mutations contribute to deafness elsewhere in the world.[ncbi.nlm.nih.gov]

  • 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] الصفحة 108 - Mutation in mitochondrial tRNAIeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. ‏[books.google.com]

  • Alstrom Syndrome

    It is characterized by retinal pigment degeneration, obesity, sensorineural deafness, non-insulin-dependent diabetes mellitus, progressive chronic nephropathy, cardiomyopathy[ncbi.nlm.nih.gov] The funduscopy showed pale optic discs, atrophic maculopathy, golden appearance of peripheral and midperipheral fundus, coarser pigmentary changes with a "bone-spicule" configuration[ncbi.nlm.nih.gov] Hearing All subjects showed a bilateral symmetrical moderate to profound sensorineural hearing loss. The onset of hearing loss was either congenital or early childhood.[journal.frontiersin.org]

  • 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] […] diagnostic clinical findings include retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, increased cerebrospinal fluid protein without pleocytosis, nerve deafness[ncbi.nlm.nih.gov]

  • Retinitis pigmentosa 40

    Usher's syndrome, in which a person is both deaf and blind, can be associated with RP.[bostonlaser.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]

  • Suppurative Labyrinthitis

    In turn, at the labyrinthitis ossificans stage, where debris and boney spicules are formed, the temporal bone CT scan ( Fig. 5 ) is the best test to identify lesion extent[bjorl.org] Patients with recurrent meningitis and congenital malformations of the inner ear may undergo vestibule obliteration. 14 All patients acquiring bilateral severe-to-profound[entokey.com] Eight (57%) individuals became deaf, while six (43%) acquired mixed hearing loss.[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 2A

    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] The other major cause of deafness and blindness is congenital rubella.[patient.info]

  • Usher Syndrome Type 3B

    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] The other major cause of deafness and blindness is congenital rubella.[patient.info]

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