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16 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Cerebellar Ataxia

  • 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] ataxia and skeletal dysplasia Cone-rod dystrophy 3 Lattice corneal dystrophy type 3A Eales disease Spinocerebellar ataxia autosomal recessive 5 Methylmalonic acidemia with[checkrare.com]

  • 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] Major diagnostic clinical findings include retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, increased cerebrospinal fluid protein without pleocytosis, nerve[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] In such late-onset diseases, including Huntington disease, 4 - 6 late-onset cerebellar ataxia, 7 and hereditary hemorrhagic telangiectasis, 8 age at onset curves are useful[jamanetwork.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] Smeets CJ and Verbeek DS (2014) Cerebellar ataxia and functional genomics: identifying the routes to cerebellar neurodegeneration.[els.net]

  • 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] ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebroretinal vasculopathy Choroideremia Coloboma of macula Coloboma of macula-brachydactyly[se-atlas.de]

  • Cataract - Ataxia - Deafness

    Bone-spicule-shaped pigment clumping may be present in the midperiphery while the optic disk is often pale and the retinal vessels are attenuated.[disorders.eyes.arizona.edu] When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com] […] episodes of cerebellar ataxia.[neuroweb.us]

  • 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] Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical[revistabiomedica.org]

  • 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] ataxia type II (SCA7), Myotonic dystrophy, and Hallervorden-Spatz syndrome.[bijojournal.org]

  • 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] ataxia Polyneuropathy Genetic features of AS AS is an autosomal-recessive disease that demonstrates intrafamilial and interfamilial variation.[ojrd.biomedcentral.com]

  • Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

    The retinal picture resembles retinitis pigmentosa with ‘bone spicule’ pigment clumps, vascular attenuation, and pale optic nerve heads.[disorders.eyes.arizona.edu] When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com] […] and epilepsy, indicating that homozygous WWOX mutations in different species causes cerebellar ataxia associated with epilepsy.[connection.ebscohost.com]

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