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283 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Narrowed Retinal Vessels

  • 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] 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]

  • Spondylocarpotarsal Synostosis

    Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this[ncbi.nlm.nih.gov] Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels were seen in 2 patients.[bio2rdf.org] One of the consanguineous families with SCT syndrome and eye abnormalities that included lens opacities, rarefaction of the retinal pigmentation, and narrowing of the retinal[jmg.bmj.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Tietz Syndrome

    From Wikidata Jump to navigation Jump to search monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like[wikidata.org] Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal.[orpha.net] profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on[wikidata.org]

    Missing: Narrowed Retinal Vessels
  • 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] Indirect ophthalmoscopy revealed bilateral attenuation of retinal vessels, waxy pallor of the optic nerve head, and perivascular clumps of pigment deposition in the mid peripheral[healio.com] 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]

  • 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] The typical funduscopic findings of RP are present, including bone-spicule–like pigmentation, pallor of the optic discs, and narrowing of blood vessels ( A , E ).[iovs.arvojournals.org] , fine dust-like intraretinal pigmentation, and loss of pigment from the pigment epithelium Moderate to severe retinal vessel attenuation and waxy pallor of the optic nerve[centogene.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] , fine dust-like intraretinal pigmentation, and loss of pigment from the pigment epithelium Moderate to severe retinal vessel attenuation and waxy pallor of the optic nerve[centogene.com] […] individuals with RP, depending on the study, the genetic type, and the diagnostic tool 1, 13 Fundus appearance: the earliest observed changes in the fundus are arteriolar narrowing[centogene.com]

  • 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] Fundoscopic findings showed optic disc pallor, narrowing of retinal vessels, and peripheral bone spicules (only in cases 3 and 4) in OU of all patients.[200.98.68.239] Fundus examination in the first decade may be normal or may show a pale optic disc and narrowing of the retinal vessels.[ncbi.nlm.nih.gov]

  • Essential Hypertension

    retinal ischemic spots (cotton-wool spots) Microaneurysms Shunt vessels Collaterals Chronic hypertensive retinal changes include the following: Arteriolosclerosis: Localized[emedicine.medscape.com] Hypertensive retinopathy is most commonly manifested by generalized or focal narrowing of retinal arterioles.[hyper.ahajournals.org] […] or generalized narrowing of vessels Copper wiring and silver wiring of arterioles as a result of arteriolosclerosis Arteriovenous (AV) nicking as a result of arteriolosclerosis[emedicine.medscape.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Hypertension

    […] can create the impression that the vessels, particularly the arterioles, are narrowed 61 ( Figure 3 ).[doi.org] Hypertensive retinopathy is most commonly manifested by generalized or focal narrowing of retinal arterioles.[dx.doi.org] Hypertensive choroidopathy can cause changes in the appearance of the retinal vessels. 7 Retinal oedema and breakdown of the blood-ocular barrier in the retinal pigment epithelium[doi.org]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • 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]

    Missing: Narrowed Retinal Vessels

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