Usher's syndrome—deafness and progressive blindness

Clinical cases, prevention, theory and literature survey
      This paper is only available as a PDF. To read, Please Download here.


      The usual description of Usher's syndrome as a congential deafness and retinitis pigmentosa is incomplete. There is also central nervous system degeneration manifesting variably in psychiatric illness, loss of olfactory sensitivity, aphasia, mental retardation, abnormal EEG readings and other neuropathology and behavioral correlates. While it is a rare disease in the general population (3 cases per 100,000 population), it is significantly prevelant among those who are deaf. For example, approximately 5–10 per cent of the genetically deaf are afflicted with this handicap.
      The disease is generally reported as being inherited autosomal recessively. Recent research indicates that heterozygote carriers of Usher's may be identifiable by complete auditory, visual, and vestibular diagnostic procedures.
      Usher's is more common in family pedigrees having cases of retinitis pigmentosa without deafness, which along with the variance of traits found in persons with Usher's, raises serious questions about its genetics and the possible embryologic, toxic, and metabolic processes in its pathogenesis.
      Commonly used techniques for diagnosing the disease (ophthalmoscopic examination and visual field testing) fail to detect the condition until it is in a relatively advanced stage and the patient is usually in his late teens. More thorough techniques involving electroretinography, electrooculography, and dark adaptation measures make possible much earlier diagnosis.
      Although a wide variety of treatments have been tried including surgery, endocrine therapy, vitamins, and transplants, at present the disease cannot be cured nor its course be significantly altered. This places a premium on prevention.
      A program for prevention through high risk diagnostic screening coupled with genetic counseling is both feasible and practical. The already existant centralization of the high risk populations assures a yield from screening procedures of probably 5–10 per cent. Thus, prevention is strongly urged in view of the trauma and chronicity of the affliction.
      Research into biochemical genetic, metabolic, psychiatric, and other behavioral aspects of Usher's offers hope for not only better understanding of this disease, but also for findings of far greater generality. Usher's represents a centering of gross central nervous system pathology with major psychological correlates such as aphasia, memory pathology, psychosis, and mental retardation. An understanding of the pathogenesis of Usher's may give insight into causes of forms of these other conditions.
      The data on the case studies presented substantiates the existence of extensive neuropsychological symtomatology concurrent with the loss of hearing and sight. The findings also raise the question of whether or not the deafness is congenital suggesting that it and the vestibular pathology may be progressive, but well advanced by age 2 or 3 yr.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Journal of Clinical Epidemiology
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Fraser G.R.
        Profound childhood deafness.
        J. med. Genet. 1964; 1: 118
        • Hallgren B.
        Retinitis pigmentosa combined with congenital deafness: with vestibulocerebellar ataxia and mental abnormality in a proportion of cases. A clinical and genelico-statistical study.
        Acta psychiat. scand. 1959; 34: 1
        • Hardy G.
        Deafness and retinitis pigmentosa.
        Amer. J. Ophthal. 1940; 23: 315
        • Francios J.
        Differential diagnosis of tapetoretinal degenerations.
        Am. med. Ass. Archs Ophthal. 1958; 59: 88
        • Francios J.
        • DeRouch A.
        The use of twin flashes in electroretinography. Characteristics of the electroretinogram in normal cases and in choroidoretinal heredogenerations.
        Am. J. Ophthal. 1962; 54: 54
        • Krill A.E.
        • Iser G.
        The value of electroretinography.
        Am. J. Ophthal. 1959; 47: 649
        • Krill A.E.
        • Stamps F.W.
        The electroencephalogram in retinitis pigmentosa.
        Am. J. Ophthal. 1960; 49: 762
        • Hammerschlag V.
        Zur Kenntnis der Hereditar-Degenerativen.
        Z. Ohrenheilk. 1907; 54
        • Fraser G.R.
        Profound childhood deafness.
        J. med. Genet. 1964; 1 (Ref. 18 in): 118
        • Liebreich R.
        Abkunft aus Ehen Unter Blutsverwandten als Grand von Retinitis Pigmentosa.
        Dt. Klin. 1861; 13
        • Fraser G.R.
        Profound childhood deafness.
        J. med. Genet. 1964; 1 (Ref. 53 in): 118
        • Parnicky J.J.
        Characteristics of deaf-blind adults at the industrial home for the blind.
        in: 2nd ed. Survey of Selected Characteristics of Deaf-Blind Adults in New York State, Fall 1957. Vol. VII. Industrial Home for the Blind, Brooklyn, N.Y1959: 13-78
        • Kloepfer H.W.
        • Lagnaite J.K.
        • McLanrin J.W.
        The hereditary syndrome of deafness and retinitis pigmentosa.
        Laryngoscope. 1966; 76: 3
        • Onken R.E.
        Characteristics of deaf-blind adults known to community agencies.
        in: 2nd ed. Survey of Selected Characteristics of Deaf-Blind Adults in New York, Fall 1957. Vol. VII. Industrial Home for the Blind, Brooklyn, N.Y1959: 79-132
        • Parnicky J.J.
        Characteristics of known deaf-blind adult population within New York State.
        in: 2nd ed. Survey of Selected Characteristics of Deaf-Blind Adults in New York State, Fall 1957. Vol. VII. Industrial Home for the Blind, Brooklyn, N.Y1959: 135-165
        • Small J.G.
        • Desmarais G.M.
        The familial occurrence of retinitis pigmentosa, mental disorders, and EEG abnormalities.
        Am. J. Psychiat. 1966; 122: 1286
        • Landau J.
        • Feinmesser M.
        Audiometric and vestibular examinations in retinitis pigmentosa.
        Br. J. Ophthal. 1956; 40: 40
        • Bettica L.J.
        • Keane G.E.
        • Bergman M.
        • Edgecomb C.F.
        • Lotz J.
        • Goldberg H.H.
        Communication—A Key to Service for Deaf-Blind Men and Women.
        in: 2nd ed. A Manual for Professional Workers. Vol. I. Industrial Home for the Blind, Brooklyn, N.Y1959: 35-59
        • Alberth B.
        • Balint A.
        • Kosa A.
        Audiometric investigations in patients with pigment degeneration of the retina.
        Klin. Mobl. Augenheilk. 1958; 133: 797
        • Alezzandrini A.A.
        Unilateral manifestations of tapetoretinal degeneration, vitiligo, poliosis, white hair and deafness.
        Ophthalmologica, Basel. 1964; 147: 401
        • Bossu A.
        • Luypaert R.B.
        The syndrome of Usher.
        Annnls Oculist. 1958; 191: 529
        • Taylor G.D.
        Congenital deafness.
        in: Schenck H.P. Oto-Laryngology. Prior, Hagerstown1960: 1-14
        • Berkow J.W.
        Retinitis pigmentosa associated with Sturge-Wever syndrome.
        Archs Ophthal. 1966; 75: 72
        • Fowler E.T.
        Otological investigations.
        in: 2nd ed. A Manual for Professional Workers. Vol. I. The Industrial Home for the Blind, Brooklyn, N.Y1958: 85-89
        • Bochenek Z.
        • Mitkievicz-Szreniawska W.
        Investigation of the organ of hearing in retinitis pigmentosa.
        Otolar. pol. 1958; 12: 457
        • Cinca D.
        • Pana I.
        • Manescu M.
        Genetical and clinical aspects of the Usher syndrome.
        Oto-Rino-Laring. (Buc.). 1966; 11: 19
        • Stenger H.H.
        Retinitis pigmentosa, symmetrical inner ear deafness, typical reversible vascular fistula reaction without fistula and irritability of vestibule: Contribution to combination of hereditary ear and eye disease.
        in: 2nd ed. The Yearbook of the Ear, Nose and Throat of Maxillofocial Surgery. The Yearbook Publ, Chicago1957–1958: 54-54 (series)
        • Cremonesi G.
        • Mora E.
        The Usher syndrome.
        Arch. ital. Lar. 1962; 70: 427
        • Rainer J.D.
        • et al.
        Family and Mental Health Problems in a Deaf Population.
        New York State Psychiatric Institute, New York1963
        • Vernon M.
        A guide to the psychological evaluation of deaf and profoundly hard of hearing adults.
        Deaf American. 1967; 14
        • Vernon M.
        • Brown D.W.
        A guide to psychological tests and testing procedures in the evaluation of deaf and hard of hearing children.
        J. Speech. Hear. Disorders. 1964; 29: 414
      1. Ammann, F., Klein, D. and Franceschetti, A.: Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland. J. neurol. Sci. 2, 183, 19

        • Cuendet J.F.
        • Rosselet E.
        Correlations between language disorders and ophthalmological disorders.
        Confin. Neurol. 1963; 23: 129
        • Hansen E.W.
        Treatment methods for retinitis pigmentosa.
        in: 2nd ed. Publication 487. National Society for Prevention of Blindness, New York1948
        • Krill A.E.
        • Falk E.
        • Rosenthal I.M.
        Electroretinography in the Lawrence Moon-Biedl syndrome.
        Am. J. Dis. Child. 1961; 102: 205
        • Myers D.
        Psychosis, Parkinsonism and retinitis pigmentosa.
        Guy's Hasp. Rep. 1965; 114: 287
        • Francios J.
        • DeRouck A.
        Value of electroretinoencephalograph in differential diagnosis of tapetoretinal degenerations.
        Annls Oculist. 1958; 191: 257
        • Gillespie F.D.
        • Donogue V.Z.
        Electroencephalograms in retinitis pigmentosa.
        Am. J. Ophthal. 1964; 57: 1945
        • Cernea P.
        • Teodorescu L.
        • Bann T.
        Choroido-retinal alterations in the deaf and dumb.
        Annls Oculist. 1965; 198: 130
        • Streifler M.
        • Landau J.
        Electrical brain potentials in retinitis pigmentosa and familial hemeralopia.
        Ophthalmologica, Basel. 1955; 130: 116
        • Wortis S.B.
        • Shaskin D.
        Retinitis pigmentosa and associated neuropsychiatric changes.
        J. Am. med. Ass. 1990; 114: 1940
        • Guerrier Y.
        • Colomer E.
        • Dejean Y.
        Retinitis pigmentosa (French).
        J. F. Oto-Rhino-Lary. 1960; 9: 1025
        • Wagemann W.
        The Usher syndrome.
        in: 2nd ed. Contrib. Audi. Diag.9. Univer. of Klin.-Kiel, H.N.U. Berlin1961: 151
        • McGovern F.H.
        Association of nerve deafness and retinitis pigmentosa: Interval report.
        Ann. Otol. Rhin. Lar. 1960; 69: 1044
        • Danish J.M.
        • Tillison J.K.
        • Lexitan M.
        Multiple anomalies in congenitally deaf children.
        Eugen. Quart. 1963; 10: 12
        • Froggatt P.
        Public health and congenital disease: The example of congenital deafness.
        Irish J. med. Soc. 1964; 57
        • Graf K.
        Deafness as a symptom of familial hereditary degenerative diseases, (abiotropies).
        Pract. Oto. Rhino-Laryng. (Basel). 1964; 26: 46
        • Bruno G.
        • Ioli-Spada G.
        Olfactometric and audiometric study in patients with retinal pigmentary degeneration.
        Boll. Oculist. 1962; 41: 549
        • Fraser G.R.
        • Froggatt P.
        • Murphy T.
        Genetical aspects of the cardio-auditory syndrome of Jervell and Lange-Nielsen (congenital deafness and electrocardiographic abnormalities).
        Annls Hum. Genet. 1964; 28: 133
        • Gilroy R.V.
        A study of primary degeneration of the retina (retinitis pigmentosa).
        in: 2nd ed. A Manual for Professional Workers. Vol. I. The Industrial Home for the Blind, Brooklyn, N.Y1958: 196-198
        • Brown K.S.
        • Hopkins L.A.
        • Hudgins R.B.
        Causes of Childhood Deafness.
        in: Paper given at International Convention on the Oral Education of the Deaf, Northampton, Mass.July, 1967 (to be printed in the Proceedings of the Convention—in press)
        • Zellweger H.
        Genetics in counseling.
        Modern Medicine. 1967; 40
        • Forsius H.
        • Eriksson A.W.
        Different ophthalmoscopic aspects of tapetoretinal degeneration in inhabitants of an archipelego.
        Ophthalmologica. 1964; 147
        • Klein D.
        • et al.
        X-linked retinitis pigmentosa and linkage studies with Xg blood groups.
        Lancet. 1967; 974
        • Goodman G.
        • Harris R.
        • Siegal I.M.
        Sex linked ocular disorders: Trait expressivity in males and carrier females.
        Archs Ophthal. 1965; 73: 387
        • Brill R.G.
        Hereditary Aspects of Deafness.
        Volta Rev. 1961; 63: 168
        • Brill R.G.
        Deafness and the genetic factor.
        Am. Ann. Deaf. 1963; 108: 359
        • Brown K.S.
        The Genetics of Childhood Deafness.
        in: Paper presented at the National Symposium of Deafness in Childhood at Vanderbuilt University, Nashville, TennesseeMay, 1966
        • Fraser G.R.
        The role of medelian inheritance in the causation of childhood deafness and blindness.
        in: Proceedings of the Symposium in the Mutational Process, Prague Academia Publishing House, Praha, CzechoslovakiaAugust, 1965
        • Lumia J.S.
        • Phrainen H.
        • Paljakka P.
        Marriages between the deaf and hereditary deafness in Finland.
        Acta oto-lary. 1966; 62: 265
        • Sank D.
        • Kallman F.J.
        The Role of heredity in early total deafness.
        Volta Rev. 1963; 65: 461
        • Vernon M.
        Current etiological factors in deafness.
        Am. Ann. Deaf. 1968; 113: 106
        • Fraser G.R.
        A study of causes of deafness amongst 2,355 children in special schools.
        in: Fisch L. Research in Deafness in Children. Blackwell Scientific Publications, London1964
        • Gregg J.B.
        • Becker S.F.
        Concommitant progressive deafness, chronic nephritis and ocular lens disease.
        Archs Ophthal. 1967; 69: 293
        • Amalric P.
        • Bessou P.
        New evidence of hereditary transmission of ‘retinal degeneration’ associated with deaf mutism.
        Archs Ophthal. (Paris). 1964; 24: 713
        • Amalric P.
        • Bessou P.
        New arguments of hereditary transmission of retinal degenerations ‘a minima’ associated with deafness.
        Rev. Oto-neuro-ophth. 1964; 36: 109
        • Amalric P.
        • et al.
        New contributions to the study of tapeto-retinal degeneration in deaf mutism.
        Bull. Soc. Franc. Ophthal. 1963; 76: 100
        • Feinmesser M.
        • Bauberger-Tell
        • Markus F.
        Consanguinity among parents of deaf children in the Jewish population in Israel.
        J. op. Laryngol. Otol. 1966; 80: 1253
        • Walsh F.B.
        Clinical Neuro-Ophthalmology.
        William & Wilkens, Baltimore1947
        • Burian H.M.
        Clinical electroretinography.
        in: 2nd ed. International Ophthalmology Clinics. Vol. 2. Boston, Little, Brown & Co, Boston1962: 21-28 (No. 1)
        • Ruedemann A.D.
        • Noell W.K.
        The electroretinogram in central retinal degeneration.
        Trans. Am. Acad. Ophth. Otol. 1961; 65: 576
        • Wirth A.
        Origin of the electroretinogram and genesis of retinitis pigmentosa.
        Minerva Med. 1964; 55: 1793
        • Campbell D.A.
        Some physiologic aspects of retinitis pigmentosa in man and in animals.
        Trans Ophthal. Soc. (U. Kingdom). 1962; 82: 667
        • Arden G.
        • Fojas M.R.
        Electrophysiological abnormalities in pigmentary degeneration of the retina: Assessment of value and basis.
        Archs. Ophthal. 1962; 68: 369
        • Kronenberg B.
        Recent advances in ophthalmology.
        New York State J. Med. 1963; 63: 1488
      2. Speech and hearing clinics in the United States and Canada (summary). 2nd ed. Am. Ann. Deaf. 112. 1967: 530
        • Doctor P.V.
        Tabular statement of American schools and classes for the deaf (summary).
        Am. Ann. Deaf. 1967; 112: 484
        • Altshuler D.
        Proceedings of National Conference on Education of Deaf, Colorado Springs, Colorado U.S. Government Publications Department of Health, Education, and Welfare, April 13–15, 1967 (in press)
        • Vernon M.
        Characteristics associated with post rubella deaf children.
        Volta Rev. 1967; 69: 176
        • Vernon M.
        Rh factor and deafness: The problem, its psychological, physical and educational manifestations.
        Exceptional Children. 1967; 38: 5
        • Vernon M.
        Prematurity and deafness: The magnitude and nature of the problem among deaf children.
        Exceptional Children. 1967; 38: 289
        • Vernon M.
        Tuberculosis meningites and deafness.
        J. Speech Hear. Disorders. 1967; 32: 177
      3. Vernon, M.: Meningitis and deafness. Laryngoscope (in press).

        • Lenneberg E.H.
        Ihe biological foundations of language.
        Hospital Practice. 1967; 59
        • Weiner R.L.
        • Falls H.F.
        Intermediate sex linked retinitis pigmentosa.
        Archs Ophthal. 1955; 53: 530
        • Heck A.F.
        Presumptive X linked intermediate transmission of retinal degenerations.
        Archs Ophthal. 1963; 70: 143
        • Ricca A.
        • Ammann F.
        • Franceschetti A.
        Reversible tapetoid reflex (inverted phenomena of Mizuo) in women carriers of sex linked recessive pigmentary retinopathy.
        Bull. Soc. Franc. Ophthal. 1963; 76: 31
        • Apollonio A.
        • Ioli S.G.
        Importance of ERG in relatives of patients with tapetoretinal degeneration.
        Bull. Oculist. 1964; 43: 258
        • Elwyn H.
        Diseases of the Retina.
        2nd ed. Bulkiston, New York1953
        • Remky H.
        • Klier A.
        • Kober J.
        Macular dystrophy in deaf muteness (syndrome of Amalric).
        Klin. Mbl. Augenheilk. 1964; 144: 180
        • Sorsby A.
        Systemic Ophthalmology.
        2nd ed. Mosby, St. Louis1958
        • Usher C.H.
        On the inheritance of retinitis pigmentosa, with notes of cases.
        Royal London Ophth. Hosp. Rept. 1914; 9: 130
      4. Bell, J.: Retinitis and allied diseases, congenital stationary night.

        • Feingold M.
        • Robinson M.J.
        • Gellis S.S.
        Waardenburgs during the first year of life.
        J. Pediat. 1967; 71: 874