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17 Possible Causes for Family History of Deafness, Fundoscopy Abnormal, Progressive Loss of Vision

  • Usher Syndrome Type 1

    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 3 is characterized by post-lingual, progressive hearing loss, late-onset progressive vision loss due to retinitis pigmentosa and variable loss of vestibular[ltd.aruplab.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]

  • Retinitis Pigmentosa

    While there is a pattern of inheritance for RP, 40% of RP patients have no known previous family history.[bostonlaser.com] A 35-year-old man presented with history of painless, progressive loss of vision in the left eye for the past 7 years.[ncbi.nlm.nih.gov] Her main complaints were night blindness and progressive loss of vision since the age of 9 years.[ncbi.nlm.nih.gov]

  • Retinitis

    While there is a pattern of inheritance for RP, 40% of RP patients have no known previous family history.[bostoneyegroup.com] A loss of side vision, or tunnel vision, is also common as RP progresses.[retinaspecialistsnw.com] French biotech Horama has treated the first patients with a gene therapy for retinitis pigmentosa that could prevent the progressive loss of vision caused by this genetic[labiotech.eu]

  • Alport Syndrome

    Two patients with recurrent haematuria but no family history of deafness or haematuria showed similar extensive changes and are regarded as new mutant cases of hereditary[ncbi.nlm.nih.gov] Chronic renal failure Decrease or loss of vision End-stage renal disease Permanent deafness The goals of treatment include monitoring and controlling progression of the disease[lutheranhealthcare.org] In contrast, family history of HN without nerve deafness, normal or nearly normal kidney on repeat biopsy, and thin or normal GBM by EM are suggestive of less or nonprogressive[ncbi.nlm.nih.gov]

  • Wolfram Syndrome

    Structural renal tract abnormalities were assessed by ultrasonography and intravenous urography.[journals.plos.org] , *Neurological signs (ataxia, epilepsy, neuropathy, cognitive impairment), *Renal tract abnormalities, *1 loss of function mutation in _WFS1/CISD2_ AND/OR family history[diapedia.org] All three cases had visual symptoms since early childhood progressing rapidly to loss of vision.[ncbi.nlm.nih.gov]

  • Sensorineural Hearing Impairment

    Physical examination including fundoscopy as well as imaging showed no abnormalities.[ncbi.nlm.nih.gov] Is there a family history of hearing loss? Some causes of deafness run in families, particularly otosclerosis.[patient.info] Retinitis pigmentosa (RP) develops in childhood and progresses from night blindness and loss of peripheral vision to blindness, through progressive degeneration of the retina[emedicine.medscape.com]

  • Congenital Optic Disc Coloboma

    The parents of our patients did not have any optic disc abnormality on fundoscopy; therefore, this is unlikely to be of autosomal dominant inheritance.[njcponline.com] A five year-old boy presented to clinic with history of premature birth and deafness.[aop.org.uk] Natural history of pits with symptomatic retinal detachment tends to be that of progressive loss of vision with persistent submacular fluid.[entokey.com]

  • Coloboma of Optic Papilla

    The parents of our patients did not have any optic disc abnormality on fundoscopy; therefore, this is unlikely to be of autosomal dominant inheritance.[njcponline.com] A five year-old boy presented to clinic with history of premature birth and deafness.[aop.org.uk] Natural history of pits with symptomatic retinal detachment tends to be that of progressive loss of vision with persistent submacular fluid.[entokey.com]

  • Optic Disc Drusen

    Optic disc drusen (ODD), or hyaline bodies, are a relatively common entity usually found incidentally on CT or on follow-up of abnormal fundoscopy.[radiopaedia.org] A five year-old boy presented to clinic with history of premature birth and deafness.[aop.org.uk] A 44-year-old woman with progressive monocular visual loss was found to have ipsilateral optic disc drusen and an ipsilateral orbital apex mass compressing the optic nerve[ncbi.nlm.nih.gov]

  • Neurofibromatosis Type 2

    Those aged under 7 years should have annual visual acuity and fundoscopy testing.[patient.info] A 16-year-old male patient complained of right-sided tinnitus and mild deafness of one-month history.[ncbi.nlm.nih.gov] First symptoms were progressive changes in vision, left-sided paresis, unilateral sensorineural hearing loss, and left hypoglossal nerve paresis.[ncbi.nlm.nih.gov]