{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:33:55Z","timestamp":1760729635555},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1970,7,1]],"date-time":"1970-07-01T00:00:00Z","timestamp":15638400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Doc Ophthalmol"],"published-print":{"date-parts":[[1970,7]]},"DOI":"10.1007\/bf00153876","type":"journal-article","created":{"date-parts":[[2004,11,1]],"date-time":"2004-11-01T09:33:12Z","timestamp":1099301592000},"page":"166-190","source":"Crossref","is-referenced-by-count":30,"title":["Usher's syndrome"],"prefix":"10.1007","volume":"28","author":[{"given":"E. B. H.","family":"De Haas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. H. M.","family":"Van Lith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Rijnders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. M. L.","family":"R\u00fcmke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ch.","family":"Volmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[1970,7,1]]},"reference":[{"key":"BF00153876_CR1","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1007\/BF00683207","volume":"163","author":"B. Alberth","year":"1961","unstructured":"Alberth, B. & I.Lampe. Neue Beobachtungen \u00fcber den Zusammenhang der Verringerung des Sehund H\u00f6rverm\u00f6gens an Patienten mit Degeneratio pigmentosa retinae. V. Graefes Arch. Ophthal. 163: 575\u2013579, (1961).","journal-title":"V. Graefes Arch. Ophthal."},{"key":"BF00153876_CR2","first-page":"57","volume-title":"Handbuch der Erbbiologie des Menschen","author":"W. Albrecht","year":"1940","unstructured":"Albrecht, W. in: Handbuch der Erbbiologie des Menschen, Vol. IV, Part I, P. 57, Berlin; Julius Springer (1940)."},{"key":"BF00153876_CR3","first-page":"258","volume":"43","author":"A. Apollonio","year":"1964","unstructured":"Apollonio, A. & G. IoliSpada. L'importanza dell'elettroretinografia nei famigliari di soggetti affetti da degenerazione tappeto-retinica periferica. Boll. Ocul. 43: 258\u2013263 (1964).","journal-title":"Boll. Ocul."},{"key":"BF00153876_CR4","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1136\/bjo.46.8.449","volume":"46","author":"G. B. Arden","year":"1962","unstructured":"Arden, G. B., AdelBarrada & J. H.Kelsey. New Clinical Test of Retinal Function Based Upon the Standing Potential of the Eye. Brit. J. Ophthal. 46: 449\u2013467 (1962).","journal-title":"Brit. J. Ophthal."},{"key":"BF00153876_CR5","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1136\/bjo.46.8.468","volume":"46","author":"G. B. Arden","year":"1962","unstructured":"\u2014 & AdelBarrada. Analysis of the Electro-Oculograms of a Series of Normal Subjects. Brit. J. Ophthal. 46: 468\u2013482 (1962).","journal-title":"Brit. J. Ophthal."},{"key":"BF00153876_CR6","doi-asserted-by":"publisher","first-page":"283","DOI":"10.3109\/00016485509124281","volume":"45","author":"J. Arnvig","year":"1955","unstructured":"Arnvig, J. Vestibular Function in Deafness and Severe Hardness of Hearing. Acta Oto-Laryng. 45: 283\u2013288 (1955).","journal-title":"Acta Oto-Laryng."},{"key":"BF00153876_CR7","volume-title":"Retinitis Pigmentosa and Allied Diseases, The Treasury of Human Inheritance","author":"J. Bell","year":"1922","unstructured":"Bell, J. Retinitis Pigmentosa and Allied Diseases, The Treasury of Human Inheritance, Vol. II, Part I, London: Cambridge University Press, (1922)."},{"key":"BF00153876_CR8","volume-title":"Ocular Lesions After Treatment With Chloroquine and Hydroxychloroquine","author":"I. Butler","year":"1966","unstructured":"Butler, I. Ocular Lesions After Treatment With Chloroquine and Hydroxychloroquine, Thesis, Utrecht (1966)."},{"key":"BF00153876_CR9","volume-title":"Verwantschap en erfelijkheid bij doofstomheid en retinitis pigmentosa","author":"P. A De Wilde","year":"1919","unstructured":"DeWilde, P. A. Verwantschap en erfelijkheid bij doofstomheid en retinitis pigmentosa. Thesis, Amsterdam (1919)."},{"key":"BF00153876_CR10","first-page":"161","volume":"48","author":"A. Franceschetti","year":"1957","unstructured":"Franceschetti, A. & P.Difterle. Die differentialdiagnostische Bedeutung des Elektroretinogramms bei tapeto-retinalen Degenerationen. Bibl. Ophthal. 48: 161\u2013182, Basel\/New York. Karger (1957).","journal-title":"Bibl. Ophthal."},{"key":"BF00153876_CR11","volume-title":"Les h\u00e9r\u00e9do-d\u00e9g\u00e9n\u00e9rescences chorio-r\u00e9tiniennes","author":"A. Franceschetti","year":"1963","unstructured":"\u2014 J.Fran\u00e7ois & J.Babel. Les h\u00e9r\u00e9do-d\u00e9g\u00e9n\u00e9rescences chorio-r\u00e9tiniennes. Paris: Masson et Cie. (1963)."},{"key":"BF00153876_CR12","first-page":"331","volume":"48","author":"H. Frey","year":"1904","unstructured":"Frey, H. & V.Hammerschlag. Untersuchungen \u00fcber den Drehschwindel der Taubstummen. Z. Ohrenheilk. 48: 331\u2013377 (1904).","journal-title":"Z. Ohrenheilk."},{"key":"BF00153876_CR13","first-page":"433","volume":"43","author":"L. Gedda","year":"1952","unstructured":"Gedda, L. Sordomutismo e genetica. Minerva Medica, 43: 433\u2013436 (1952).","journal-title":"Minerva Medica"},{"key":"BF00153876_CR14","volume-title":"Electroretinography, Electrooculography, and Night Vision, Advances in Electrophysiology and -pathology of the Visual System. 6th Iscerg Symp. Erfurt","author":"T. Geyer-Mannerfelt","year":"1967","unstructured":"Geyer-Mannerfelt, T., O.Pallin & I.Rendahl. Electroretinography, Electrooculography, and Night Vision, Advances in Electrophysiology and -pathology of the Visual System. 6th Iscerg Symp. Erfurt (1967) Leipzig: Georg Thieme (1968)."},{"issue":"3","key":"BF00153876_CR15","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/0002-9394(58)90062-X","volume":"46","author":"G. Goodman","year":"1958","unstructured":"Goodman, G. & R. D.Gunkel. Familial Electroretinographic and Adaptometric Studies in Retinitis Pigmentosa. Am. J. Ophthal. 46, 3, II: 142\u2013178 (1958).","journal-title":"Am. J. Ophthal."},{"key":"BF00153876_CR16","first-page":"54","volume":"34","author":"G.-F. Greiner","year":"1962","unstructured":"Greiner, G.-F., A.Brim & M.Grossmann. L'association surdit\u00e9 tardive et r\u00e9tinite pigment\u00e9e. Rev. Oto-Neuro-Ophtal. 34: 54\u201358 (1962).","journal-title":"Rev. Oto-Neuro-Ophtal."},{"key":"BF00153876_CR17","volume-title":"Troubles de l'appareil auditif et manifestations ophtalmologiques associ\u00e9s.","author":"R. Grimaud","year":"1962","unstructured":"Grimaud, R., P.Mounier-Kuhn, M.Gignoux & H.Martin. Troubles de l'appareil auditif et manifestations ophtalmologiques associ\u00e9s. Paris, Librairie Arnette (1962)."},{"key":"BF00153876_CR18","first-page":"1025","volume":"9","author":"Y. Guerrier","year":"1960","unstructured":"Guerrier, Y., E.Colomer & Y.D\u00e9jean. R\u00e9tinite pigmentaire et surdit\u00e9. J. Fran\u00e7. OtoRhino-Laryng. 9: 1025\u20131035 (1960).","journal-title":"J. Fran\u00e7. OtoRhino-Laryng."},{"key":"BF00153876_CR19","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/S0002-9394(40)90268-9","volume":"23","author":"G. Hardy","year":"1940","unstructured":"Hardy, G. Deafness and Retinitis Pigmentosa. Amer. J. Ophthal. 23: 315\u2013317 (1940).","journal-title":"Amer. J. Ophthal."},{"key":"BF00153876_CR20","unstructured":"Karpe, G. The Basis of Clinical Electroretinography. Acta Ophthal., Suppl. XXIV (1945)."},{"key":"BF00153876_CR21","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1136\/bjo.51.1.44","volume":"51","author":"J. H. Kelsey","year":"1967","unstructured":"Kelsey, J. H. Variations in the Normal Electro-Oculogram. Brit. J. Ophthal. 51: 44\u201349 (1967).","journal-title":"Brit. J. Ophthal."},{"key":"BF00153876_CR22","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1111\/j.1755-3768.1948.tb05821.x","volume":"26","author":"E. Kjerrumgaard","year":"1948","unstructured":"Kjerrumgaard, E. Retinitis Pigmentosa with Special Reference to Otologic, Neurologic, and Endocrine Complications. Acta Ophthal. 26: 55\u201365 (1948).","journal-title":"Acta Ophthal."},{"key":"BF00153876_CR23","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1016\/0002-9394(67)93055-3","volume":"64","author":"A. E. Krill","year":"1967","unstructured":"Krill, A. E. Observations of Carriers of X-Chromosomal-Linked Chorioretinal Degenerations. Amer. J. Ophthal. 64: 1029\u20131040 (1967).","journal-title":"Amer. J. Ophthal."},{"key":"BF00153876_CR24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/BF00180759","volume":"19","author":"J. H. Kurstjens","year":"1965","unstructured":"Kurstjens, J. H. Choroideremia and Gyrate Atrophy of the Choroid and Retina. Docum. Ophthal. 19: 1\u2013122 (1965).","journal-title":"Docum. Ophthal."},{"key":"BF00153876_CR25","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1136\/bjo.40.1.40","volume":"40","author":"J. Landau","year":"1956","unstructured":"Landau, J. & M.Feinmesser. Audiometric and Vestibular Examinations in Retinitis Pigmentosa. Brit. J. Ophthal. 40: 40\u201344 (1956).","journal-title":"Brit. J. Ophthal."},{"key":"BF00153876_CR26","first-page":"361","volume":"7","author":"R. Lavalle","year":"1953","unstructured":"Lavalle, R. L'audiogramme dans les r\u00e9tinites pigmentaires. Acta Oto-Rhino-Laryng. Belg. 7: 361\u2013370 (1953).","journal-title":"Acta Oto-Rhino-Laryng. Belg."},{"key":"BF00153876_CR27","volume-title":"The Etiology of Deaf-Mut\u00edsm","author":"H. Lindenov","year":"1945","unstructured":"Lindenov, H. The Etiology of Deaf-Mut\u00edsm, Copenhagen: Einar Munksgaard, (1945)."},{"key":"BF00153876_CR28","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1001\/archotol.1942.03760060067003","volume":"36","author":"F. H. Mcgovern","year":"1942","unstructured":"Mcgovern, F. H. Association of Nerve Deafness and Retinitis Pigmentosa. Arch. Otolaryng. 36: 827\u2013836 (1942).","journal-title":"Arch. Otolaryng."},{"key":"BF00153876_CR29","doi-asserted-by":"publisher","first-page":"1044","DOI":"10.1177\/000348946006900411","volume":"69","author":"F. H. Mcgovern","year":"1960","unstructured":"\u2014 The Association of Nerve Deafness and Retinitis Pigmentosa. Ann Otol. Rhin. Laryng. 69: 1044\u20131053 (1960).","journal-title":"Ann Otol. Rhin. Laryng."},{"key":"BF00153876_CR30","first-page":"121","volume-title":"P\u00e9diatres Langue franc.","author":"A. Montandon","year":"1961","unstructured":"Montandon, A. & I.Spitzer. Les abiotrophies neuro-r\u00e9tiniennes en otologie, Rep. 18e Congr. Ass. P\u00e9diatres Langue franc., 2: 121\u2013130-B\u00e2le-New York: Karger, (1961)."},{"key":"BF00153876_CR31","first-page":"562","volume":"66","author":"R. M\u00fccke","year":"1921","unstructured":"M\u00fccke, R. E\u00edn Beitrag zur Vererbung der Retinitis pigmentosa, Klin. Monatsbl. Augenh. 66: 562\u2013568 (1921).","journal-title":"Klin. Monatsbl. Augenh."},{"key":"BF00153876_CR32","first-page":"703","volume":"79","author":"Cl. Perrin","year":"1958","unstructured":"Perrin, Cl. Corr\u00e9lations audiom\u00e9triques et \u00e9lectro-enc\u00e9phalographiques au cours des d\u00e9g\u00e9n\u00e9rescences tap\u00e9to-r\u00e9tiniennes. Rev. Laryng.-Oto.-Rhinol. 79: 703\u2013743; 1274\u20131325 (1958).","journal-title":"Rev. Laryng.-Oto.-Rhinol."},{"key":"BF00153876_CR33","first-page":"141","volume":"63","author":"A. D. Ruedemann Jr.","year":"1959","unstructured":"Ruedemann Jr., A. D. The Electroretinogram in Hereditary Visual Cell Degeneration. Trans. Amer. Acad. Ophthal. Otolaryng. 63: 141\u2013160, (1959).","journal-title":"Trans. Amer. Acad. Ophthal. Otolaryng."},{"key":"BF00153876_CR34","first-page":"122","volume":"76","author":"J. Schappert-Kimmijser","year":"1963","unstructured":"Schappert-Kimmijser, J. Les d\u00e9g\u00e9n\u00e9rescences tap\u00e9to-r\u00e9tiniennes du type X chromosomal aux Pays-Bas. Bull. M\u00e9m. Soc. Franc. Ophtal. 76: 122\u2013129 (1963).","journal-title":"Bull. M\u00e9m. Soc. Franc. Ophtal."},{"key":"BF00153876_CR35","first-page":"1","volume":"29","author":"J.-P. Secretan","year":"1954","unstructured":"Secretan, J.-P. De la surdi-mutit\u00e9 r\u00e9cessive et de ses rapports avec les autres formes de surdi-mutit\u00e9, Arch. Klaus-Stift. Vererbungsf. 29: 1\u2013134 (1954).","journal-title":"Arch. Klaus-Stift. Vererbungsf."},{"key":"BF00153876_CR36","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1016\/S0002-9394(43)92344-X","volume":"26","author":"W. A. Sirles","year":"1943","unstructured":"Sirles, W. A. & H.Slaughter. Pigmentary Degeneration of the Retina and Nerve Type of Deafness. Amer. J. Ophthal. 26: 961\u2013966 (1943).","journal-title":"Amer. J. Ophthal."},{"key":"BF00153876_CR37","first-page":"320","volume":"42","author":"Steinberg","year":"1937","unstructured":"Steinberg. Erbliche Augenkrankheiten und Ohrenleiden Z. Hals-Nasen-Ohrenheilk. 42: 320\u2013345 (1937).","journal-title":"Z. Hals-Nasen-Ohrenheilk."},{"key":"BF00153876_CR38","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1007\/BF02108803","volume":"170","author":"H.-H. Stenger","year":"1956","unstructured":"Stenger, H.-H. Retinitis pigmentosa, symmetrische Innenohrschwerh\u00f6rigkeit, typisch umgekehrtes vascul\u00e4res Fistelsymptom ohne Fistel und Erregbarkeitsst\u00f6rung des Vestibularis. Arch. Ohren-Nasen-Kehlkopfheilk. 170: 187\u2013198 (1956).","journal-title":"Arch. Ohren-Nasen-Kehlkopfheilk."},{"key":"BF00153876_CR39","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1111\/j.1469-1809.1956.tb01367.x","volume":"20","author":"A. C. Stevenson","year":"1955\/6","unstructured":"Stevenson, A. C. & E. A.Cheeseman. Hereditary Deaf Mutism, with Particular Reference to Northern Ireland. Ann. Hum. Genet. 20: 177\u2013231 (1955\/6).","journal-title":"Ann. Hum. Genet."},{"key":"BF00153876_CR40","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1111\/j.1755-3768.1963.tb02444.x","volume":"41","author":"P. J. Waardenburg","year":"1963","unstructured":"Waardenburg, P. J. & J.Schappert-Kimmijser. On Various Recessive Biotypes of Leber's Congenital Amaurosis. Acta Ophthal. 41: 317\u2013320 (1963).","journal-title":"Acta Ophthal."},{"key":"BF00153876_CR41","first-page":"298","volume":"87","author":"F. Wibaut","year":"1931","unstructured":"Wibaut, F. Studien \u016bber Retinitis pigmentosa. Klin. Monatsbl. Augenheilk. 87: 298\u2013307 (1931).","journal-title":"Klin. Monatsbl. Augenheilk."},{"key":"BF00153876_CR42","first-page":"244","volume":"7","author":"L. S. Wildervanck","year":"1957","unstructured":"Wildervanck, L. S. Consanguinity and Congenital Deaf Mutism in the Netherlands. Are the Parents of Deaf Children Detectable as Heterozygotes? Acta Genet. Statist. Med. 7: 244\u2013248 (1957).","journal-title":"Acta Genet. Statist. Med."}],"container-title":["Documenta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00153876.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00153876\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00153876","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,3]],"date-time":"2019-04-03T11:23:17Z","timestamp":1554290597000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00153876"}},"subtitle":["With special reference to heterozygous manifestations"],"short-title":[],"issued":{"date-parts":[[1970,7]]},"references-count":42,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1970,7]]}},"alternative-id":["BF00153876"],"URL":"https:\/\/doi.org\/10.1007\/bf00153876","relation":{},"ISSN":["0012-4486","1573-2622"],"issn-type":[{"value":"0012-4486","type":"print"},{"value":"1573-2622","type":"electronic"}],"subject":[],"published":{"date-parts":[[1970,7]]}}}