Create issue ticket

21 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Sensorineural Hearing Impairment

  • Alstrom Syndrome

    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] The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing impairment, diabetes mellitus, and hypertriglyceridemia[ncbi.nlm.nih.gov]

  • 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]

  • 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] Sensorineural hearing loss in postmeningitic children. Otol Neurotol 2003;24(6):907-12. Wood VH and others.[dizziness-and-balance.com]

  • 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] 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]

  • 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] Abstract Usher syndrome (USH) is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa[ncbi.nlm.nih.gov]

  • 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] Commonly Associated Conditions With systemic disorders Usher syndrome: RP and congenital sensorineural hearing impairment Laurence-Moon-Biedl syndrome (also called Bardet-Biedl[unboundmedicine.com]

  • Familial Progressive Vestibulocochlear Dysfunction

    The vessels are very thin, and there is a characteristic pigment called bone spicules. Figure 3.[audiologyonline.com] Sensorineural hearing loss is usually congenital, severe to profound and non-progressive. However, hearing loss may be later onset and progressive in some patients.[asperbio.com] Two months later, our tests disclosed vestibular areflexia and increased sensorineural hearing impairment: about 10 to 60 dB hearing loss downsloping from 1 to 8 kHz bilaterally[doi.org]

  • 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] The Usher syndromes (Ush) are a group of autosomal recessive disorders characterized by congenital sensorineural hearing impairment and retinitis pigmentosa.[molvis.org]

  • 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] Usher syndrome type 2A is caused by mutations the USH2A gene and is inherited in an autosomal recessive manner. 0000662 Scotoma 0000575 Sensorineural hearing impairment 0000407[rarediseases.info.nih.gov]

  • 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] Additionally, candidacy for cochlear implantation, currently the only medical treatment available for the treatment of profound sensorineural hearing loss, cannot be established[californiaearinstitute.com]

Similar symptoms