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22 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Night Blindness

  • 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] 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 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]      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 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] Retinitis pigmentosa first presents with night blindness, but progresses to tunnel vision and loss of visual acuity.[sema4genomics.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] Type I children are born completely or severely deaf and suffer from night blindness around age 10.[raredr.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] The authors report the case of a 14-year-old girl diagnosed because of night blindness.[ncbi.nlm.nih.gov]

  • 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] In young patients with the symptom of night blindness, it is important to differentiate retinitis pigmentosa from stationary night blindness.[ommbid.mhmedical.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] 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

    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] 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

    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] 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 3A

    These include pigment dispersion, which means that some parts appear lighter than others, followed by "bone spicules" which are little jagged spots.[boystownhospital.org] , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com] Vision problems are initially characterised by night blindness or tunnel vision but this also varies between individuals.[ushermom.com]

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