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44 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Night Blindness, Retinitis Pigmentosa

  • Usher Syndrome Type 1

    In view of the combination of profound hearing loss, vestibular dysfunction, and retinitis pigmentosa in the patients, we classified the disease as USH1.[ncbi.nlm.nih.gov] , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com] Retinitis pigmentosa first presents with night blindness, but progresses to tunnel vision and loss of visual acuity.[sema4genomics.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] Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations[ncbi.nlm.nih.gov] The authors report the case of a 14-year-old girl diagnosed because of night blindness.[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1J

    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] Duane retraction syndrome has earlier been reported with various conditions such as retinitis pigmentosa, Bardet Biedl syndrome with atypical retinitis pigmentosa, pseudoretinitis[healio.com] Type I children are born completely or severely deaf and suffer from night blindness around age 10.[raredr.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] RP2 Retinitis pigmentosa 2Pathogenic (Aug 1, 2001) no assertion criteria provided RP2 Retinitis pigmentosa 2Pathogenic (Aug 1, 1998) no assertion criteria provided GRCh37:[ncbi.nlm.nih.gov] In young patients with the symptom of night blindness, it is important to differentiate retinitis pigmentosa from stationary night blindness.[ommbid.mhmedical.com]

  • 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] Abstract Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is[ncbi.nlm.nih.gov] 6, congenital, X-linked GPR179 Congenital stationary night blindness, type 1E GRIP1 Cryptophthalmos syndrome GRK1 Oguchi disease 2 GRM6 Congenital stationary night blindness[asperbio.com]

  • Usher Syndrome Type 1D

    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 - sensorineural hearing loss and retinitis pigmentosa.[medical-dictionary.thefreedictionary.com] Symptoms - Usher syndrome- type 1D Night blindness Decreased visual acuity Constricted visual fields Learning difficulties Visual difficulties Causes - Usher syndrome- type[checkorphan.org]

  • Usher Syndrome Type 2A

    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] Back to results Usher syndrome type 2A Retinitis pigmentosa 39 (deletion/duplication analysis on USH2A gene) USH2A Request Now Methodology Deletion/duplication analysis by[cgcgenetics.com] This progressive vision loss, called retinitis pigmentosa (RP), is due to degeneration of the photoreceptor cells in the retina, which initially causes night blindness and[scholarsbank.uoregon.edu]

  • Usher Syndrome Type 3B

    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] USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness.[uniprot.org] Eyesight usually begins degrading around the age of 5-10, beginning with night blindness. Generally night blindness precedes tunnel vision by years or even decades.[visionforacure.com]

  • Usher Syndrome Type 1K

    Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov] Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov]      16 children All have two pathogenic USH mutations “Routine” eye exams did not pick up USH in any patients who were pre-symptomatic (i.e. not night blind) 9/16 had[studyslide.com]

  • Usher Syndrome Type 1H

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov] Night blindness, congenital stationary, type 1G,616389 GNAT2Achromatopsia-4,613856 GNB3Night blindness, congenital stationary, type 1H,617024 GNB3{Hypertension, essential,[qgenomics.com]

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