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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[] Retinitis pigmentosa first presents with night blindness, but progresses to tunnel vision and loss of visual acuity.[] COMMON Features of the Disorder Retinitis pigmentosa Night blindness progresses to more visual loss (e.g. peripheral vision loss) Cataracts Developmental delay Balance problems[]

  • 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.[] Audiometry: hf high frequency sensorineural loss 4 kHz; B bilateral, U unilateral. @ severe, threshold 70 dB; # reduced sural amplitudes, * abnormal common peroneal compound[] STATIONARY FORMS OF CONGENITAL NIGHT BLINDNESS The stationary forms of congenital night blindness are congenital stationary night blindness, Oguchi’s disease, and fundus albipunctatus[]

  • Abetalipoproteinemia

    Posterior pole of patient with abetalipoproteinemia showing pale optic nerve head, attenuated blood vessels and atrophic retina (left).[] 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)[] 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[]

  • Bardet-Biedl Syndrome Type 11

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

  • Isolated Congenital Sclerocornea

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

  • 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[] Clinical Workup/Diagnosis Initial workup includes a full physical examination and audiometry (See “Audiometry” section on menu for details on diagnosis.)[] 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, ...[]

  • 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[] 35delGAge 15 monthsTympanograms: normal19Pendred SyndromeMost common genetic cause after Cx26Enlarged vestibular aqueducts10-20% of pts with AU EVA have PDSGoiter resulting from abnormal[]      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[]

  • Alstrom Syndrome

    Both fundi revealed waxy, pale discs with attenuated retinal vessels.[] Cochlear function at age 6 was tested, and was abnormal.[] 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.[]

  • Microcornea

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

  • Bardet-Biedl Syndrome 10

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

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