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57 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Retinopathy

  • Usher Syndrome Type 1

    , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com] […] type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy[ncbi.nlm.nih.gov] Abstract The Usher syndromes (USH) are autosomal recessive diseases characterized by congenital sensorineural hearing loss and progressive pigmentary retinopathy.[ncbi.nlm.nih.gov]

  • AMACR Deficiency

    The latter usually presents during adulthood and can be accompanied by pigmentary retinopathy, although this is not always the case.[symptoma.com] , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] RP N/A RP No RP degenera-tive retino-pathy N/A pigmentary retinopathy pigmentary retinopathy pigmentary retinopathy DM II N/A N/A N/A N/A N/A N/A N/A No Yes Yes Additional[ojrd.biomedcentral.com]

  • Retinitis Pigmentosa 23

    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] 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] Apply the latest knowledge on anti-VEGF therapy for age related macular degeneration, diabetic retinopathy and vein disease.[books.google.de]

  • Retinitis pigmentosa 40

    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] Definition A retinal dystrophy belonging to the group of pigmentary retinopathies.[uniprot.org] Presents new pharmacotherapy data and the latest approaches in anti-VEGF therapy for age-related macular degeneration, diabetic retinopathy, and venous occlusive disease.[books.google.de]

  • Alstrom Syndrome

    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] Alström syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary retinopathy), progressive sensorineural hearing[ncbi.nlm.nih.gov] Alstrom syndrome is a rare autosomal recessive disorder associated with early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1K

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Lenses with specialized filters may be recommended for management of the retinopathy.[orpha.net] […] ocular late onset sensorineural deafness Mucopolysaccharidosis type VII Slow-channel congenital myasthenic syndrome Microphthalmia syndromic 4 Duane syndrome type 3 Best1 retinopathy[checkrare.com]

  • Usher Syndrome Type 1D

    Apply the latest knowledge on anti-VEGF therapy for age related macular degeneration, diabetic retinopathy and vein disease.[books.google.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]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] […] form of infantile-onset SCA2 has been recognized associated with extreme expansions of SCA2 alleles, in which children have infantile spasms, severe hypotonia, pigmentary retinopathy[ataxia.uchicago.edu] In addition, pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive[emedicine.medscape.com]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] Sears, assistant professor of ophthalmology and cell biology, for his work titled “Preventing Retinopathy of Prematurity;” 2007, M.[thedaily.case.edu] […] on branchial cleft pits, cysts, preauricular pits, telecanthus, white forelock, pigmentary anomalies, goiter, craniofacial anomalies, heterochromia iridis and pigmentary retinopathy[symptoma.com]

  • 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] The unusual condition of the patient's father, a presumed heterozygotic carrier with characteristic bone abnormalities and a delayed onset retinopathy, is discussed.[ncbi.nlm.nih.gov] Symptoms include retinopathy, polyneuropathy, ataxia, and deafness. They are variable and rarely recognized before adulthood.[ncbi.nlm.nih.gov]

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