{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:04:33Z","timestamp":1762160673379,"version":"3.33.0"},"reference-count":27,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["British Journal of Ophthalmology"],"published-print":{"date-parts":[[1995,2,1]]},"DOI":"10.1136\/bjo.79.2.135","type":"journal-article","created":{"date-parts":[[2007,9,18]],"date-time":"2007-09-18T21:53:19Z","timestamp":1190152399000},"page":"135-138","source":"Crossref","is-referenced-by-count":21,"title":["Ectopia lentis et pupillae syndrome in three generations."],"prefix":"10.1136","volume":"79","author":[{"given":"J R","family":"Cruysberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Pinckers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"article-title":"pedigrees published before 1920 and cited by Siemens.1 ELP is inherited as a recessive trait.5 11 Fran9ois11 summarised publications from 1885 to 1947 and noted that consanguinity has been reported in many studies. He noted further that there were no exceptions to the concept of an autosomal recessive inheritance. An autosomal recessive inheritance of the ELP syndrome is suggested by the occurrence in several siblings of one generation, consanguinity,2 4 5 14 15 and an equal distribution between males and females. Extensive search of the literature resulted in only two pedigrees with more than one affected generation. In the report of Walls and Heath,10 two generations were affected, suggesting a dominant inheritance: a female with ELP had a son with normal pupils but with ectopia lentis in one eye; her twin sister had ectopia lentis in both eyes. Strebel and Steiger in 1915 reported the occurrence of ELP in four generations, in combination with myopia and cardiac disease.'","issue":"2","key":"ref_1","unstructured":"1 pedigrees published before 1920 and cited by Siemens.1 ELP is inherited as a recessive trait.5 11 Fran9ois11 summarised publications from 1885 to 1947 and noted that consanguinity has been reported in many studies. He noted further that there were no exceptions to the concept of an autosomal recessive inheritance. An autosomal recessive inheritance of the ELP syndrome is suggested by the occurrence in several siblings of one generation, consanguinity,2 4 5 14 15 and an equal distribution between males and females. Extensive search of the literature resulted in only two pedigrees with more than one affected generation. In the report of Walls and Heath,10 two generations were affected, suggesting a dominant inheritance: a female with ELP had a son with normal pupils but with ectopia lentis in one eye; her twin sister had ectopia lentis in both eyes. Strebel and Steiger in 1915 reported the occurrence of ELP in four generations, in combination with myopia and cardiac disease.' 2"},{"key":"ref_2","unstructured":"A strict distinction into an autosomal recessive inherited ELP syndrome, an autosomal dominant inherited ectopia pupillae syndrome or an autosomal dominant inherited ectopia lentis syndrome, is in our opinion too artificial and probably no longer justified. In order to solve the many questions, we must go back to the genetic mechanisms involved in the development of both lens and iris. Waardenburg25 wrote in 1932: 'it is very likely that the recessive ectopia lentis syndrome and the ectopia pupillae et lentis syndrome, at least in a number of cases, have a common genetic origin.' Whatever the transmission, the affected members of the pedigree we present here are suffering from a common genetic defect.","article-title":"A strict distinction into an autosomal recessive inherited ELP syndrome, an autosomal dominant inherited ectopia pupillae syndrome or an autosomal dominant inherited ectopia lentis syndrome, is in our opinion too artificial and probably no longer justified. In order to solve the many questions, we must go back to the genetic mechanisms involved in the development of both lens and iris. Waardenburg25 wrote in 1932: 'it is very likely that the recessive ectopia lentis syndrome and the ectopia pupillae et lentis syndrome, at least in a number of cases, have a common genetic origin.' Whatever the transmission, the affected members of the pedigree we present here are suffering from a common genetic defect"},{"issue":"109","key":"ref_3","first-page":"359","article-title":"Ueber die Aetiologie der Ectopia lentis et pupillae nebst einigen allgemeinen Bemerkungen uber Vererbung bei Augenleiden","volume":"1920","author":"Siemens, H.W.","unstructured":"Siemens HW, Ueber die Aetiologie der Ectopia lentis et pupillae nebst einigen allgemeinen Bemerkungen uber Vererbung bei Augenleiden. Graefes Arch K\/in Exp Ophthalmol 1920; 109: 359-83.","journal-title":"Graefes Arch K\/in Exp Ophthalmol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/BF01501141","article-title":"Over het erfelijkheidsmoment bij de aangeboren verplaatsing van de pupil en lens","volume":"6","author":"Waardenburg, P.J.","year":"1924","unstructured":"Waardenburg PJ. Over het erfelijkheidsmoment bij de aangeboren verplaatsing van de pupil en lens. Genetica 1924; 6: 337-82.","journal-title":"Genetica"},{"key":"ref_5","first-page":"325","article-title":"Ueber ectopia pupillae et lentis congenita","volume":"74","author":"Zeeman, W.P.C.","year":"1925","unstructured":"Zeeman WPC. Ueber ectopia pupillae et lentis congenita. K\/in Monatsbl Augenheilkd 1925; 74: 325-38.","journal-title":"K\/in Monatsbl Augenheilkd"},{"key":"ref_6","first-page":"162","volume":"62","author":"familiare Linsenluxation. Z Augenheilkd, Fecht W.Ueber","year":"1927","unstructured":"Fecht W. Ueber familiare Linsenluxation. Z Augenheilkd 1927; 62: 162-8."},{"issue":"78","key":"ref_7","first-page":"351","article-title":"Ectopia lentis et pupillae congenita als rezessives Erbleiden und ihre Manifestierung durch","volume":"1927","author":"Franceschetti, A.","unstructured":"Franceschetti A. Ectopia lentis et pupillae congenita als rezessives Erbleiden und ihre Manifestierung durch Konsanguinitat. K\/in Monastbl Augenheilkd 1927; 78: 351-62.","journal-title":"Konsanguinitat. K\/in Monastbl Augenheilkd"},{"issue":"12","key":"ref_8","first-page":"87","article-title":"Persistent pupillary membrane and congenital ectopia lentis","volume":"1929","author":"Crebbin, A.R.","unstructured":"Crebbin AR. Persistent pupillary membrane and congenital ectopia lentis. Am Y Ophthalmol 1929; 12: 87-90.","journal-title":"Am Y Ophthalmol"},{"issue":"21","key":"ref_9","first-page":"124","article-title":"Ectopia lentis. A pathologic and clinical study","volume":"1939","author":"Clarke, C.C.","unstructured":"Clarke CC. Ectopia lentis. A pathologic and clinical study. Arch Ophthalmol 1939; 21: 124-53.","journal-title":"Arch Ophthalmol"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1159\/000300446","article-title":"Ueber Ectopia lentis ohne Arachnodaktylie und ihre Beziehungen zur Ectopia lentis et pupillae","volume":"114","author":"Diethelm, W.","year":"1947","unstructured":"Diethelm W. Ueber Ectopia lentis ohne Arachnodaktylie und ihre Beziehungen zur Ectopia lentis et pupillae. Ophthalmologica 1947; 114: 16-32.","journal-title":"Ophthalmologica"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/j.1755-3768.1950.tb07995.x","article-title":"Congenital ectopia lentis","volume":"29","author":"Lund, A.; Sjontoft, F.","year":"1950","unstructured":"Lund A, Sjontoft F. Congenital ectopia lentis. Acta Ophthalmol 1950; 29: 33-48.","journal-title":"Acta Ophthalmol"},{"key":"ref_12","first-page":"166","article-title":"Dominant ectopia lentis et pupillae","volume":"11","author":"Walls, G.L.; Heath, G.G.","year":"1959","unstructured":"Walls GL, Heath GG. Dominant ectopia lentis et pupillae. AmJHum Genet 1959; 11: 166-8.","journal-title":"AmJHum Genet"},{"key":"ref_13","first-page":"161","article-title":"Hereditary in ophthalmology","author":"Frangois, J.","year":"1961","unstructured":"Frangois J. Hereditary in ophthalmology. St Louis: Mosby, 1961: 161-4."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1001\/archopht.1976.03910040042007","article-title":"Ectopia lentis et pupillae","volume":"94","author":"Townes, P.L.","year":"1976","unstructured":"Townes PL. Ectopia lentis et pupillae. 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Y Audiovis Media Med 1987; 10: 87-9.","journal-title":"Y Audiovis Media Med"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0039-6257(82)90069-8","article-title":"Ectopia lentis","volume":"27","author":"Nelson, L.B.; Maumenee, I.H.","year":"1982","unstructured":"Nelson LB, Maumenee IH. Ectopia lentis. Surv Ophthalmol 1982; 27: 143-60.","journal-title":"Surv Ophthalmol"},{"key":"ref_22","first-page":"189","article-title":"Primordial dwarfism and ectopia lentis","volume":"7","author":"McKusick, V.A.","year":"1955","unstructured":"McKusick VA. Primordial dwarfism and ectopia lentis. AmJ Hum Genet 1955; 7: 189-98.","journal-title":"AmJ Hum Genet"},{"key":"ref_23","first-page":"81","article-title":"Familial simple ectopia lentis; a probable autosomal recessive form","author":"Ruiz, C.; Rivas, F.; Villar-Calvo, V.M.; Serrano-Lucas, J.I.; Cantui, J.M.","year":"1986","unstructured":"Ruiz C, Rivas F, Villar-Calvo VM, Serrano-Lucas JI, Cantui JM. 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