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16 Possible Causes for Audiometry Abnormal, Night Blindness, Retinal Vessels Attenuated

  • Usher Syndrome Type 1

    Objective testing includes direct examination of the retina, where an ophthalmologist will find attenuated blood vessels, a waxy pallor, and clumps of dead retinal cells called[asha.org] Retinitis pigmentosa first presents with night blindness, but progresses to tunnel vision and loss of visual acuity.[sema4genomics.com] COMMON Features of the Disorder Retinitis pigmentosa Night blindness progresses to more visual loss (e.g. peripheral vision loss) Cataracts Developmental delay Balance problems[evolvegene.com]

  • Non-Syndromic Ocular Stickler Syndrome Type 1 

    Those changes are accompanied by disc atrophy and attenuation of the retinal arterioles. Finally, the visual field constricts totally and vision is lost.[healio.com] Audiometry: hf high frequency sensorineural loss 4 kHz; B bilateral, U unilateral. @ severe, threshold 70 dB; # reduced sural amplitudes, * abnormal common peroneal compound[academic.oup.com] STATIONARY FORMS OF CONGENITAL NIGHT BLINDNESS The stationary forms of congenital night blindness are congenital stationary night blindness, Oguchi’s disease, and fundus albipunctatus[entokey.com]

  • Abetalipoproteinemia

    Posterior pole of patient with abetalipoproteinemia showing pale optic nerve head, attenuated blood vessels and atrophic retina (left).[aao.org] Audiometry showed moderate to severe mixed bilateral hearing loss, suggesting it to be due to combination of conductive (CSOM-related) and sensori-neural (disease-related)[annalsofian.org] The patient notes night blindness and, if the condition is untreated, eventually demonstrates loss of foveal function and diffuse drusenlike spots similar to those in retinitis[aao.org]

  • Bardet-Biedl Syndrome Type 11

    Optic disks and retinal vessels are normal in infancy; disk pallor and attenuated retinal vessels develop with age.[scielo.br] We noted that the severity of structural abnormalities correlated with the severity of renal dysfunction.[bmcmedgenet.biomedcentral.com] Case Report A 12-year-old boy presented to the pediatric outpatient department with the complaint of night blindness.[mjdrdypu.org]

  • Isolated Congenital Sclerocornea

    PIGMENTOSA/Progressive retinal degeneration, night blindness, constricted visual fields, dyschromatopsia, cystoid macular edema, pigment clumps in retina, attenuated retinal[eyewiki.org] […] otherwise, both conditions share the same ocular abnormalities.[ojrd.biomedcentral.com] BLINDNESS/Night blindness, myopia/AD, AR, X-linked /Numerous/Multiple CORNEA PLANA/Hyperopia, hazy corneal limbus, corneal opacities, thin cornea/AR/KERA/#217300 CORNELIA[eyewiki.org]

  • Autosomal Dominant Deafness 56

    Clinical hallmarks include bone-spicule deposits, attenuated retinal blood vessels, optic disc pallor, visual field loss, and abnormal, diminished, or non-recordable electroretinography[journalretinavitreous.biomedcentral.com] Clinical Workup/Diagnosis Initial workup includes a full physical examination and audiometry (See “Audiometry” section on menu for details on diagnosis.)[cochlea.eu] TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, ...[scholar.google.com]

  • Usher Syndrome Type 1K

    On ophthalmologic examinations, the lens and the cornea were intact, but the fundoscopic examination revealed bony spicule pigmentation with attenuated retinal vessels in[mafiadoc.com] 35delGAge 15 monthsTympanograms: normal19Pendred SyndromeMost common genetic cause after Cx26Enlarged vestibular aqueducts10-20% of pts with AU EVA have PDSGoiter resulting from abnormal[docslide.com.br]      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]

  • Alstrom Syndrome

    Both fundi revealed waxy, pale discs with attenuated retinal vessels.[healio.com] Cochlear function at age 6 was tested, and was abnormal.[bjorl.org] A 52 years old man was diagnosed with an over 30 years history of progressive visual acuity worsening in both eyes, with the presence of night blindness and photophobia.[ncbi.nlm.nih.gov]

  • Microcornea

    The chorioretinopathy has not been described beyond evidence of the maculopathy, attenuated retinal vessels, and occasionally hyperpigmented zones.[disorders.eyes.arizona.edu] Echocardiography and audiometry revealed no abnormality. Thyroid function tests were within normal limits.[indianpediatrics.net] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Eyes]; Night blindness onset during teen years; Cataracts, pulverulent; Microphthalmia (some); Dyschromatopsia (some[findzebra.com]

  • Bardet-Biedl Syndrome 10

    , including atrophy of the RPE and vessel (arteriolar) attenuation.[molvis.org] We noted that the severity of structural abnormalities correlated with the severity of renal dysfunction.[bmcmedgenet.biomedcentral.com] Individuals experience night blindness by childhood and are diagnosed with legal blindness by an average age of 15 years.[sema4.com]

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