Create issue ticket

14 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Family History of Deafness

  • 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] In the early stages it may be thought of purely as an auditory problem and the problem of sight is not anticipated unless there is a family history.[patient.info]

  • 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] While there is a pattern of inheritance for RP, 40% of RP patients have no known previous family history.[bostonlaser.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] 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]

  • 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] In the early stages it may be thought of purely as an auditory problem and the problem of sight is not anticipated unless there is a family history.[patient.info]

  • 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] In the early stages it may be thought of purely as an auditory problem and the problem of sight is not anticipated unless there is a family history.[patient.info]

  • 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] In the early stages it may be thought of purely as an auditory problem and the problem of sight is not anticipated unless there is a family history.[patient.info]

  • 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] In the early stages it may be thought of purely as an auditory problem and the problem of sight is not anticipated unless there is a family history.[patient.info]

  • 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] In the early stages it may be thought of purely as an auditory problem and the problem of sight is not anticipated unless there is a family history.[patient.info]

  • 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] Currently, it is not possible to determine whether a person who does not have a family history of Usher syndrome is a carrier.[medigoo.com]

  • Usher Syndrome Type 2D

    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] 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] Right now, from family history and genetic evaluations, we do not always have the ability to identify the gene in a person.[audiologyonline.com]

Similar symptoms