{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T11:00:22Z","timestamp":1761217222067,"version":"build-2065373602"},"reference-count":30,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1972,3]]},"DOI":"10.1136\/jmg.9.1.126","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"126-128","source":"Crossref","is-referenced-by-count":21,"title":["Nystagmus in a female carrier of ocular albinism."],"prefix":"10.1136","volume":"9","author":[{"given":"W G","family":"Pearce","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G J","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J G","family":"Gillan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1972,3,1]]},"reference":[{"key":"ref_1","first-page":"170","article-title":"Partial monosomy 18 and anomaly of thyroxine synthesis","volume":"1","author":"Biihler, E.M.; Biihler, U.K.; Stalder, G.R.","year":"1964","unstructured":"Biihler, E. M., Biihler, U. K., and Stalder, G. R. (1964). Partial monosomy 18 and anomaly of thyroxine synthesis. Lancet, 1, 170-171.","journal-title":"Lancet"},{"key":"ref_2","article-title":"and visual impairment one associates with the hemizygous male","author":"congenital nystagmus; photophobia","year":"1971","unstructured":"congenital nystagmus, photophobia, and visual impairment one associates with the hemizygous male. Received 7 June 1971.","journal-title":"Received"},{"key":"ref_3","article-title":"Case Report The proposita (II.10) was ascertained during a study of an extended family in Newfoundland within whom ocular albinism was segregating (Fig. 1). The report containing the full pedigree and other noteworthy features is","volume-title":"At the time of the ascertainment the patient was 52 years of age. She gave a history of nystagmus dating from very early childhood and probably from birth. Her first pair of glasses were obtained at about 12 years of age when she was found to be myopic. Since that time her myopia had increased and 1 year before examination she was wearing -10 00 spheres in each eye, while her recorded visual acuity was approximately 20\/200 right and counting fingers left. The right lens was clear but a moderately dense cataract was present in the left. Her younger affected brother (II. 12) was also a moderately high myope (-9 50 sphere right and left","author":"elsewhere (Johnson, Gillan; Pearce","year":"1971","unstructured":"Case Report The proposita (II.10) was ascertained during a study of an extended family in Newfoundland within whom ocular albinism was segregating (Fig. 1). The report containing the full pedigree and other noteworthy features is published elsewhere (Johnson, Gillan, and Pearce, 1971). At the time of the ascertainment the patient was 52 years of age. She gave a history of nystagmus dating from very early childhood and probably from birth. Her first pair of glasses were obtained at about 12 years of age when she was found to be myopic. Since that time her myopia had increased and 1 year before examination she was wearing -10 00 spheres in each eye, while her recorded visual acuity was approximately 20\/200 right and counting fingers left. The right lens was clear but a moderately dense cataract was present in the left. Her younger affected brother (II. 12) was also a moderately high myope (-9 50 sphere right and left)."},{"key":"ref_4","article-title":"Minor abnormalities have also been noted infrequently in females heterozygous for retinoschisis (Sabates, 1966; Eriksson et al","author":"Klein","year":"1967","unstructured":"; Klein et al, 1967). Minor abnormalities have also been noted infrequently in females heterozygous for retinoschisis (Sabates, 1966; Eriksson et al, 1969)."},{"key":"ref_5","unstructured":"These morphological abnormalities, found to a greater or lesser extent in females heterozygous for X-linked disorders have been explained by the Lyon hypothesis (Lyon, 1961), although this is not univer-","article-title":"These morphological abnormalities, found to a greater or lesser extent in females heterozygous for X-linked disorders have been explained by the Lyon hypothesis"},{"key":"ref_6","article-title":"Discussion sally accepted","volume-title":"If inactivation occurs as suggested (Lyon, 1962","author":"an early stage","year":"1967","unstructured":"Discussion sally accepted (Gruneberg, 1967). If inactivation occurs as suggested (Lyon, 1962) at an early stage"},{"key":"ref_7","article-title":"A search of the literature did reveal a case with when only a few embryonic cells are destined to befeatures similar to those described above (Waardencome the pigment epithelium of the iris and retina","volume-title":"In the family the random process may occasionally be expected to originally described by Engelhard (1915), the coninactivate a greater number of X chromosomes dition was called hereditary nystagmus. Reinvestibearing the normal allele than of those bearing the gation by Waardenburg and van den Bosch revealed albino allele resulting in little retinal pigment","author":"burg","year":"1956","unstructured":"A search of the literature did reveal a case with when only a few embryonic cells are destined to befeatures similar to those described above (Waardencome the pigment epithelium of the iris and retina, burg and van den Bosch, 1956). In the family the random process may occasionally be expected to originally described by Engelhard (1915), the coninactivate a greater number of X chromosomes dition was called hereditary nystagmus. Reinvestibearing the normal allele than of those bearing the gation by Waardenburg and van den Bosch revealed albino allele resulting in little retinal pigment."},{"key":"ref_8","article-title":"The present case also appears to be heterozygous having inherited the abnormal gene from her mother who was the daughter of a carrier female (Johnson et al","volume-title":"Support for heterozygosity is provided by the presence of pigment in the patient's retina, the absence of the disorder in her father, the lack of the carrier state in two of her sisters, and by her children-an affected son and a","year":"1971","unstructured":"The present case also appears to be heterozygous having inherited the abnormal gene from her mother who was the daughter of a carrier female (Johnson et al, 1971). Support for heterozygosity is provided by the presence of pigment in the patient's retina, the absence of the disorder in her father, the lack of the carrier state in two of her sisters, and by her children-an affected son and a"},{"year":"1948","author":"appearance (McCulloch, REFERENCES; McCulloch","key":"ref_9","unstructured":"REFERENCES appearance (McCulloch and McCulloch, 1948; Krill, 1967). In retinitis pigmentosa, carrier"},{"key":"ref_10","first-page":"319","article-title":"Eine Famile mnit hereditarem Nystagmus. Zeitschrift fir die gesamte","volume":"28","author":"Engelhard, C.F.","year":"1915","unstructured":"Engelhard, C. F. (1915). Eine Famile mnit hereditarem Nystagmus. Zeitschrift fir die gesamte Neurologie und Psychiatrie, 28, 319-338.","journal-title":"Neurologie und Psychiatrie"},{"key":"ref_11","unstructured":"females may possess the golden, glistening tapetal reflex (Falls and Cotterman, 1948; Weiner and Falls,","article-title":"females may possess the golden, glistening tapetal reflex (Falls and Cotterman, 1948; Weiner and Falls"},{"key":"ref_12","first-page":"360","article-title":"Studies on X-linked retinoscisis","volume":"176","author":"Eriksson, A.W.; Fellman, J.; Vainio-Mattila, B.; Sanger, R.; Race, R.R.; Krause, V.; Forsius, H.","year":"1969","unstructured":"Eriksson, A. W., Fellman, J., Vainio-Mattila, B., Sanger, R., Race, R. R., Krause, V., and Forsius, H. (1969). Studies on X-linked retinoscisis in Finland. In Progress in Neuro-ophthalmology, pp. 360-362, Proceedings of the 2nd International Congress on Neuro-genetics and Neuro-ophthalmology, Montreal, 1967, ed. by A. Barbeau and J. K. Brunette, Excepta Medica International Congress Series, No. 176, Amsterdam.","journal-title":"Finland. In Progress in Neuro-ophthalmology; Excepta Medica International Congress Series"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/0002-9394(51)90007-4","article-title":"Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote","volume":"34","author":"Falls, H.F.","year":"1951","unstructured":"Falls, H. F. (1951). Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote. American 7ournal of Ophthalmology, 34, 41-50.","journal-title":"American 7ournal of Ophthalmology"},{"key":"ref_14","first-page":"685","article-title":"Chorioretinal degeneration","volume":"40","author":"Falls, H.F.; Cotterman, C.W.","year":"1948","unstructured":"Falls, H. F. and Cotterman, C. W. (1948). Chorioretinal degeneration. Archives of Ophthalmology, 40, 685-703.","journal-title":"Archives of Ophthalmology"},{"key":"ref_15","first-page":"63","article-title":"Measurable linkage between ocular albinism and Xg","volume":"19","author":"Fialkow, P.J.; Giblett, E.R.; Motulsky, A.G.","year":"1967","unstructured":"Fialkow, P. J., Giblett, E. R., and Motulsky, A. G. (1967). Measurable linkage between ocular albinism and Xg. American Journal of Human Genetics, 19, 63-69.","journal-title":"American Journal of Human Genetics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1111\/j.1469-1809.1967.tb00025.x","article-title":"Sex-linked genes in man and the Lyon hypothesis","volume":"30","author":"Gruneberg, H.","year":"1967","unstructured":"Gruneberg, H. (1967). Sex-linked genes in man and the Lyon hypothesis. Annals of Human Genetics, 30, 239-257.","journal-title":"Annals of Human Genetics"},{"key":"ref_17","first-page":"237","article-title":"Ocular albinism in Newfoundland","volume":"6","author":"Johnson, G.J.; Gillan, J.G.; Pearce, W.G.","year":"1971","unstructured":"Johnson, G. J., Gillan, J. G., and Pearce, W. G. (1971). Ocular albinism in Newfoundland. Canadian J'ournal of Ophthalmology, 6, 237-248.","journal-title":"Canadian J'ournal of Ophthalmology"},{"key":"ref_18","first-page":"974","article-title":"X-linked retinitis pigmentosa and linkage studies with the Xg blood groups","volume":"1","author":"Klein, D.; Franceschetti, A.; Hussels, I.; Race, R.R.; Sanger, R.","year":"1967","unstructured":"Klein, D., Franceschetti, A., Hussels, I., Race, R. R., and Sanger, R. (1967). X-linked retinitis pigmentosa and linkage studies with the Xg blood groups. Lancet, 1, 974-975.","journal-title":"Lancet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1016\/0002-9394(67)93055-3","article-title":"Observations of carriers of X-chromosomallinked chorioretinal degenerations","volume":"64","author":"Krill, A.E.","year":"1967","unstructured":"Krill, A. E. (1967). Observations of carriers of X-chromosomallinked chorioretinal degenerations. American Journal of Ophthalmology, 64, 1029-1040.","journal-title":"American Journal of Ophthalmology"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1038\/190372a0","article-title":"Gene action in the X-chromosome of the mouse (Mus Musculus L.)","volume":"190","author":"Lyon, M.F.","year":"1961","unstructured":"Lyon, M. F. (1961). Gene action in the X-chromosome of the mouse (Mus Musculus L.). Nature, 190, 372-373.","journal-title":"Nature"},{"key":"ref_21","first-page":"135","article-title":"Sex chromatin and gene action in the mammalian X-chromosome","volume":"14","author":"Lyon, M.F.","year":"1962","unstructured":"Lyon, M. F. (1962). Sex chromatin and gene action in the mammalian X-chromosome. American journal of Human Genetics, 14, 135-148.","journal-title":"American journal of Human Genetics"},{"key":"ref_22","first-page":"160","article-title":"A hereditary and clinical study of choroideremia","volume":"52","author":"McCulloch, J.C.; McCulloch, R.J.P.","year":"1948","unstructured":"McCulloch, J. C. and McCulloch, R. J. P. (1948). A hereditary and clinical study of choroideremia. Transactions of the American Academy of Ophthalmology-Otolaryngology, 52, 160-190.","journal-title":"Transactions of the American Academy of Ophthalmology-Otolaryngology"},{"key":"ref_23","first-page":"1282","volume":"1","author":"Pearce, W.G.; Sanger, R.; Race, R.R.","year":"1968","unstructured":"Pearce, W. G., Sanger, R., and Race, R. R. (1968). Ocular albinism and Xg. Lancet, 1, 1282-1283.","journal-title":"Ocular albinism and Xg. Lancet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/0002-9394(66)92194-5","article-title":"Juvenile retinoschisis","volume":"62","author":"Sabates, F.N.","year":"1966","unstructured":"Sabates, F. N. (1966). Juvenile retinoschisis. American Journal of Ophthalmology, 62, 683-688.","journal-title":"American Journal of Ophthalmology"},{"key":"ref_25","first-page":"119","article-title":"Uber Maculalosigkeit bei isoliertem Bulbusalbinismus als geschlechtsgebunden-rezessive Merkmal. Archiv der","volume":"1","author":"Vogt, A.","year":"1925","unstructured":"Vogt, A. (1925). Uber Maculalosigkeit bei isoliertem Bulbusalbinismus als geschlechtsgebunden-rezessive Merkmal. Archiv der Julius Klaus-Stiftung fur Vererbungsforschung Sozialanthropologie und Rassenhygiene, 1, 119-122."},{"key":"ref_26","first-page":"846","article-title":"Die Iris bei Albinismus solum","volume":"3","author":"Vogt, A.","year":"1942","unstructured":"Vogt, A. (1942). Die Iris bei Albinismus solum bulbi. In Atlas fur Spaltlampen-Mikroskopie, vol. 3, pp. 846-847. Enke, Stuttgart."},{"key":"ref_27","first-page":"55","article-title":"Remarkable Facts in Human Albinism and Leukism","author":"Waardenburg, P.J.","year":"1970","unstructured":"Waardenburg, P. J. (1970). Remarkable Facts in Human Albinism and Leukism, p. 55. Van Gorcum, Assen."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1469-1809.1971.tb00270.x","article-title":"X-chromosomal ocular albinism in a Dutch family","volume":"21","author":"Waardenburg, P.J.; Bosch, J.van den","year":"1956","unstructured":"Waardenburg, P. J. and Bosch, J. van den (1956). X-chromosomal ocular albinism in a Dutch family. Annals of Human Genetics, 21, 101-122.","journal-title":"Annals of Human Genetics"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1001\/archopht.1955.00930010536011","article-title":"Intermediate sex-linked retinitis pigmentosa","volume":"53","author":"Weiner, R.L.; Falls, H.F.","year":"1955","unstructured":"Weiner, R. L. and Falls, H. F. (1955). Intermediate sex-linked retinitis pigmentosa. Archives of Ophthalmology, 53, 530-535.","journal-title":"Archives of Ophthalmology"},{"key":"ref_30","article-title":"Patients with the Duarte variant of galactosaemia are usually healthy, despite functional and structural abnormalities in their galactose-lphosphate uridyl transferase (Beutler","volume-title":"Ng et al, 1969). We describe an infant with abnormal signs associated with the enzyme phenotype of a homozygous Duarte variant","year":"1967","unstructured":"Patients with the Duarte variant of galactosaemia are usually healthy, despite functional and structural abnormalities in their galactose-lphosphate uridyl transferase (Beutler et al, 1965; Mathai and Beutler, 1966; Gitzelinan, Poley, and Prader, 1967; Ng et al, 1969). We describe an infant with abnormal signs associated with the enzyme phenotype of a homozygous Duarte variant. Received 20 July 1971."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.9.1.126","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:42:30Z","timestamp":1760726550000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.9.1.126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1972,3]]},"references-count":30,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1972,3,1]]},"published-print":{"date-parts":[[1972,3]]}},"alternative-id":["10.1136\/jmg.9.1.126"],"URL":"https:\/\/doi.org\/10.1136\/jmg.9.1.126","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1972,3]]}}}