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602 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Mutation in the OFD1 Gene

  • 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] 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]

    Missing: Mutation in the OFD1 Gene
  • 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] Additionally, three deep intronic regions of USH2A, CEP290 and OFD1 genes, containing known pathogenic mutations, were also covered.[nature.com]

  • 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 the OFD1 gene on chromosome Xp22.[malacards.org]

  • Retinitis Pigmentosa 26

    There are bone spicules and peripheral pigment degeneration extending inside the arcades, again not much different from the photos in 2003.[retinagallery.com] Likewise, causal mutations in OFD1 (Gene ID: 8481; OMIM: 300170 ), RP2 (Gene ID: 6102; OMIM: 300757 ), and RPGR (Gene ID: 6103; OMIM: 312610 ) have been identified in RP cases[molvis.org] Fundus revealed arteriolar attenuation and diffuse bone-spicule pigmentation involving the macula [Figure 1] a and [Figure 1] b.[ijo.in]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Retinitis Pigmentosa 32

    There are bone spicules and peripheral pigment degeneration extending inside the arcades, again not much different from the photos in 2003.[retinagallery.com] X-linked retinitis pigmentosa can be caused by mutations in the RPGR or RP2 gene. An unconfirmed X-linked gene is OFD1 .[bredagenetics.com] Diagnosis RETINITIS PIGMENTOSA (RP) •History •Bone-spicule pigment •Waxy pale optic disc 11.[slideshare.net]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Gorlin Psaume Syndrome

    Radiographs of the hands often show fine reticular radiolucencies, described as irregular mineralization of the bone, with or without spicule formation of the phalanges.[pocketdentistry.com] Genetic counseling OFD1 follows an X-linked dominant pattern of inheritance. The gene mutations commonly occur de novo.[orpha.net] Abstract Oral‐facial‐digital syndrome type 1 (OFD1; OMIM# 311200) is an X‐linked dominant ciliopathy caused by mutations in the OFD1 gene.[ncbi.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • 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] 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]

    Missing: Mutation in the OFD1 Gene
  • Retinitis pigmentosa 44

    Fundus examination reveals bone spicule pigment deposits, attenuated retinal vessels, retinal atrophy and waxy optic nerve pallor.[orpha.net] , CYP4V2, or OFD1 ( 6 – 8 ).[spandidos-publications.com] Retrospective Summary of Clinical Findings Patient Image Age Nyctalopia (y) Field Loss Bone-Spicule Pigment Attenuated Vessels Inheritance Specific Diagnosis Other Symptoms[iovs.arvojournals.org]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • 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] Attenuation of retinal vessles, bone spicules in midperiphery, and waxy pallor of optic nerve head.[healio.com]

    Missing: Mutation in the OFD1 Gene
  • Mohr Syndrome

    , with or without spicule formation of the phalanges Brain [ edit ] Structural brain abnormalities occur in 10-15% (may be an underestimate) most common include intracerebral[en.wikibooks.org] Mutations in the OFD1 gene have a deleterious effect on primary cilia and alter several signaling pathways during development, thus, accounting for the wide variation in phenotypes[medlink.com] […] of the OFD1 gene.[gad-bfc.org]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss

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