Hostname: page-component-cd9895bd7-dzt6s Total loading time: 0 Render date: 2024-12-25T01:49:07.438Z Has data issue: false hasContentIssue false
  • English
  • Français

Genetic Counselling in X-Linked Eye Diseases

Published online by Cambridge University Press:  01 August 2014

J. François ,
M. Th. Matton-Van Leuven ,
D. Vandenbulcke-Donck  and
S. De Bie
J. François*
Affiliation:
Department of Ophthalmology, Section of Medical Genetics, University of Ghent, Belgium
M. Th. Matton-Van Leuven
Affiliation:
Department of Ophthalmology, Section of Medical Genetics, University of Ghent, Belgium
D. Vandenbulcke-Donck
Affiliation:
Department of Ophthalmology, Section of Medical Genetics, University of Ghent, Belgium
S. De Bie
Affiliation:
Department of Ophthalmology, Section of Medical Genetics, University of Ghent, Belgium
*
Oogheelkunde, De Pintelaan 135, B 9000 Ghent, Belgium

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The fundamental principles of genetic counselling in X-linked heredity are reviewed. As many as 18 X-linked eye diseases are described and discussed. These include diseases of the eye-ball, lens, retina, choroid, optic nerve, ocular muscles, and pigmentation, as well as the ocular manifestations of systemic skin or metabolic diseases.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 22 , Issue 1 , January 1973 , pp. 51 - 74
Copyright
Copyright © The International Society for Twin Studies 1973

References

REFERENCES

Abassi, V., Lowe, C.V., Calcagno, P.L. 1968. Oculocerebro-renal syndrome. Am. J. Dis. Child., 115: 145–168.CrossRefGoogle Scholar
Andersen, S.R., Warburg, M. 1961. Norrie's disease. Congenital bilateral pseudotumor of the retina with recessive X-chromosomal inheritance. Preliminary report. Arch. Ophthalmol., 66: 614–618.Google Scholar
Arias, S., Rodriguez, A. 1972. New families, one with two recombinants for estimation of recombination between the deutan and prolan loci. Humangenetik, 14: 264–268.Google Scholar
Ashton, N. 1971. Norrie's Disease. Joint Meeting European Pathology Society and Verhoeff Society, London.Google Scholar
Bell, A.G., McCulloch, J.C. 1971. Choroideremia and the Xg locus: another look for linkage. Clin. Genet., 2: 239–241.Google Scholar
Berg, K. 1969. Mapping the X-chromosome. Discussion paper. Bull. Eur. Soc. Hum. Genet., 3: 29–32.Google Scholar
Blackwell, H.R., Blackwell, O.M. 1957. Blue monocone monochromacy: a new color vision defect. J. Opt. Soc. Am., 47: 338.Google Scholar
Bornschein, H., Schubert, G. 1954. Das photopische Flimmer-Elektroretinogramm des Menschen. Z. Biol., 106: 229–238.Google Scholar
Brady, R.O., Gal, A.E., Bradley, R.M., Martensson, E., Warshaw, A.L., Laster, L. 1967. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N. Engl. J. Med., 276: 1163–1167.Google Scholar
Brini, A., Sacrez, P., Levy, J.P. 1972. Maladie de Norrie. Ann. Ocul., 205: 1–16.Google Scholar
Bruyn, G.W., Went, L.N. 1964. A sex-linked heredo-degenerative neurological disorder, associated with Leber's optic atrophy. I. Clinical studies. J. Neurol. Sci., 1: 59–80.CrossRefGoogle ScholarPubMed
Capella, J.A., Kaufman, H.E., Lill, F.J., Cooper, G. 1963. Hereditary cataracts and microphthalmia. Am. J. Ophthalmol., 56: 454–458.Google Scholar
Carr, R.E., Siegel, I.M. 1970. The vitreo-tapeto-retinal degenerations. Arch. Ophthalmol., 84: 436–445.Google Scholar
Carter, C.O. 1969. VII. Genetic Counselling. Lancet, 1: 1303–1305.Google Scholar
Christensen Lou, H.O., Heidensleben, E., Larsen, H.W. 1970. The value of ocular findings in the diagnosis of angiokeratoma corporis diffusum (Fabry's disease). Acta Ophthalmol. (Kbh.), 48: 1185–1194.Google Scholar
Chutorian, A., Rowland, L.P. 1966. Lowe's syndrome. Neurology (Minneap.), 16: 115–122.CrossRefGoogle ScholarPubMed
Crone, R. 1959. Spectral sensitivity in color defective subjects and heterozygous carriers. Am. J. Ophthalmol., 48: 231–238.Google Scholar
Cuendet, J.F., Della Porta, V. 1950. Association de nystagmus congénital, d'amblyopie et d'astigmatisme cornéen. Hérédité incomplètement dominante liée au sexe. Arch. Ophtalmol. (Paris), 10: 187–201.Google Scholar
Cuendet, J.F. 1961. La microphtalmie compliquée. Ophthalmologica, 114: 380–385.CrossRefGoogle Scholar
De Groot, W.P. 1963. Thesaurismosis hereditaria lipoidica Ruiter-Pompen-Wyers (angiokeratoma corporis diffusum van Fabry). Ned. Tijdschr. Geneeskd., 107: 687–693.Google Scholar
De Groot, W.P. 1964. Genetic aspects of the thesaurismosis lipoidica hereditaria Ruiter-Pompen-Wyers (angiokeratoma corporis diffusum Fabry). Dermatologica, 129: 281–282.Google Scholar
Denden, A., Eberle, P. 1970. Chromosomal analysis in the Fabiy Anderson syndrome. Ber. Dtsch. Ophthalmol. Ges., 70: 462–467.Google Scholar
Deutman, A.F. 1971. The Hereditary Dystrophies of the Posterior Pole of the Eye. Van Gorcum & Cie N.V., Assen.Google Scholar
De Vries-De Mol, E. C., Went, L. N., Völker-Dieben, H.J. 1972. Een familie met geslachtsgebonden opticus atrophie. Ned. Antropogen. Veren., 11 maart 1972, Amsterdam, p. 12–14.Google Scholar
De Zarate Ortiz, J.C. 1966. Recessive sex-linked inheritance of congenital external ophthaloplegia and myopia coincident with other dysplasias. A reappraisal after 15 years. Br. J. Ophthalmol., 50: 606–607.Google Scholar
Earll, J.M., Spivey, B.E., Mattei, I.R. 1966. A typical congenital monochromatism. A new pedigree of total colour blindness with chromosomal studies. Arch. Intern. Med., 118: 491–493.CrossRefGoogle Scholar
Eberle, P., Denden, A. 1969. Cytogenetische Untersuchungen in einem Sippe mit Morbus Fabry Anderson (Angiokeratoma corporis diffusum universale). Albrecht von Graefes Arch. Klin. Ophthalmol., 179: 118–137.Google Scholar
Eriksson, A.W., Fellman, J., Vainio-Mattila, B., Sanger, R., Race, R.R., Krause, V., Forsius, H. 1967. Studies of X-linked retinoschisis in Finland. Exc. Med. Int. Congr. Ser. n. 176. Progress in Neuro-Ophthalmology, vol. II of the Proc. 2nd Int. Congr. Neuro-Genet. and Neuro-Ophthal., Montreal, p. 360–362.Google Scholar
Eriksson, A.W., Waardenburg, P.J., Forsius, H. 1969 a. X-linked hereditary Äland eye disease. Paper read for Eur. Soc. Hum. Genet., Liverpool meeting, 04 19-20, 1969. Bull. Eur. Soc. Hum. Genet., 3: 77–81.Google Scholar
Eriksson, A.W., Fellman, J., Vainio-Mattila, B., Forsius, H. 1969 b. X-chromosomal retinoschisis (retinal detachment) in Finland. Bull. Eur. Soc. Hum. Genet., 3: 67–76.Google Scholar
Ewing, C.C., Ives, E.J. 1969. Juvenile hereditary retinoschisis. Trans. Ophthalmol. Soc. U.K., 89: 29–39.Google Scholar
Falls, H.F., Cotterman, C.W. 1948. Choroido-retinal degeneration. A sex-linked form in which heterozygous women exhibit a tapetal-like retinal reflex. Arch. Ophthalmol., 40: 685–703.Google Scholar
Falls, H. F. 1951. Sex-linked ocular albinism displaying typical fundus changes in the female heteiozygote. Am. J. Ophthalmol., 34: 41–50.CrossRefGoogle Scholar
Fialkow, P.J., Giblett, E.R., Motulsky, A.G. 1967. Measurable linkage between ocular albinism and Xg. Am. J. Hum. Genet., 19: 63–69.Google Scholar
Forrester, R.H. 1963. The syndrome of pseudoglioma. Proc. R. Soc. Med., 56: 994.Google ScholarPubMed
Forsius, H., Vainio-Mattila, B., Eriksson, A. 1962. X-linked hereditary retinoschisis. Br. J. Ophthalmol., 46: 678–681.Google Scholar
Forsius, H., Eriksson, A.W. 1964 a. Ein neues Augensyndrom mit X-chromosomale Transmission. Eine Sippe mit Fundusalbinism, Fovea-Hypoplasia, Nystagmus, Myopia, Astigmatism und Dyschromatopsie. Klin. Monatsbl. Augenheilkd., 144: 447–457.Google Scholar
Forsius, H., Eriksson, A.W. 1964 b. A new X-chromosomal ocular syndrome. Acta Ophthalmol. (Kbh.), 42: 928–929.Google Scholar
Forsius, H., Eriksson, A.W., Nuutial, A., Vainio-Mattila, A., Krause, U. 1971. A genetic study of three rare retinal disorders: dystrophia retinae, dysacusis syndrome, X-chromosomal retinoschisis and grouped pigments of the retina. Birth Defects, Orig. Art. Ser., 7: 83–98.Google ScholarPubMed
Forssman, B., Ringner, B. 1971. Prevalence and inheritance of congenital nystagmus in a Swedish population. Ann. Hum. Genet., 35: 139–147.Google Scholar
Fraccaro, M., Manfredini, U., Morone, G., Sanger, R. 1967. X-linked cataract. Ann. Hum. Genet., 31: 45–50.Google Scholar
Franceschetti, A., Dieterle, P., Schwarz, A. 1959. Skotopische Elektroretinogramm bei Myopie mit und ohne congenitaler Hemeralopie. Electroretinographia Symp. Luhacovice, Acta Fac. Med. Univ. Brunensis, 4: 247–252.Google Scholar
Franceschetti, A., Thier, C.J. 1961. Ueber Hornhautdystrophien bei Genodermatosen unter besonder Berücksichtigung der Palmaplantarkeratosen (Klinische, genetische und histologische Studien). Albrecht von Graefes Arch. Klin. Ophthalmol., 162: 610–670.CrossRefGoogle Scholar
Franceschetti, A., François, J., Badel, J. 1963. Les Hérédo-Dégénérescences Chorio-Rétiniennes. II, 879, Masson et Cie, Paris.Google Scholar
François, J., Deweer, J.P. 1953. Albinisme oculaire lié au sexe et altérations caractéristiques du fond d'oeil chez les femmes hétérozygotes. Ophthalmologica, 126: 209–221.Google Scholar
François, J. 1958. L'Hérédité en Ophtalmologie. Masson et Cie, Paris.Google Scholar
François, J. 1961. Heredity in Ophthalmology. Mosby Co., St. Louis.Google Scholar
François, J. 1962. Chorioretinal degeneration or retinitis pigmentosa of intermediate sex-linked heredity. Docum Ophthalmol., 16: 111–127.CrossRefGoogle ScholarPubMed
François, J., De Rouck, A. 1963. Hérédo-dégénére-scence chorio-rétinienne myopique liée au sexe. Bull. Soc. Belge Ophtalmol., 135: 461–473.Google Scholar
François, J., De Rouck, A. 1965. Sex-linked myopic chorioretinal heredo-degeneration. Am. J. Ophthalmol., 60: 670–678.Google Scholar
François, J. 1966. Heredo-familial corneal dystrophies. Trans. Ophthalmol. Soc. U.K., 86: 367–416.Google Scholar
François, J., Verriest, G., Matton-Van Leuven, M.Th., De Rouck, A., Manavian, D. 1966. Atypical achromatopsia of sex-linked recessive inheritance. Am. J. Ophthalmol., 61: 1101–1107.CrossRefGoogle ScholarPubMed
François, J. 1967. Manifestations oculaires dans certaines erreurs congénitales du métabolisme. Ann. Med. Nancy, 6: 253–400.Google Scholar
François, J., Snacken, J., Stockmans, L. 1968. Fabry's disease (glyco-lipid lipoidosis). Pathol. Eur., 3: 347–368.Google Scholar
François, J. 1971. Sex-linked chorioretinal heredo-degenerations. Birth Defects, Orig. Art. Ser., 7: 99–116.Google Scholar
François, J. 1972. Ocular manifestations in aminoacidopathies. Adv. Ophthalmol. Karger, Basel, 25: 28–103.Google Scholar
François, J. De Bie S., Verriest, G., Matton, M.Th. 1973. Conceptions actuelles sur l'hérédité des déficiences congénitales de la vision des couleurs. Ann. Ocul., 206: 1–20.Google Scholar
Fraser, G.R., Friedmann, A.I. 1968. Chorioderemia in a female. Br. Med. J., 2: 732–734.Google Scholar
Frost, W.A. 1902. Unusually well-marked retinal reflex. Trans. Ophthalmol. Soc. U.K., 22: 208–209.Google Scholar
Gedda, L., Magistretti, S. 1956. Paracinesia adduttorio-enoftalmica gemello-familiare e albinismo oculare in altra famiglia. Acta Genet. Med. Gemellol. (Roma), 5: 391–417.CrossRefGoogle Scholar
Gieser, E.P., Falls, H. 1961. Hereditary retinoschisis Am. J. Ophthalmol., 51: 1193–1200.Google Scholar
Gillespie, F.D. 1961. Ocular albinism with report of a family with female carriers. Arch. Ophthalmol. 66: 774–777.CrossRefGoogle ScholarPubMed
Gillespie, F.D., Covelli, B. 1963. Carriers of ocular albinism with and without ocular changes. Arch. Ophthalmol., 70: 209–213.Google Scholar
Goldberg, M.F., Hardy, J., Hussels, I. 1971. X-linked cataract: two pedigrees. Soc. Confer. Clin. Delineation of Birth Defects, Orig. Art. Ser., 7: 164–165.Google Scholar
Goodman, G., Ripps, H., Spiegel, I.M. 1965. Sex-linked ocular disorders. Trait expressivity in males and carrier females. Arch. Ophthalmol., 73: 387–398.Google Scholar
Gragg, G.W. 1971. X-linked cataract: two pedigrees. The Clin. Delineation of Birth Defects, Orig. Art. Ser., 8: 164–165.Google Scholar
Grant, R., Falls, H.F. 1944. Anodontia. Report of case associated with ectodermal dysplasia of anhy-drotic type. Am. J. Orthod., 30: 661–672.Google Scholar
Grutzner, P., Sanger, R., Spivey, B.E. 1972. Linkage studies in X-linked retinitis pigmentosa. Humangenetik, 14: 155–158.Google Scholar
Guyot-Sionnest, 1969. À propos d'une famille atteinte de rétinoschisis idiopathique récessif lié au sexe. Ann. Ocul., 202: 573–598.Google Scholar
Halbertsma, K.T.A. 1934. Familiale aangeborene cataract. Ned. Tijdschr. Geneeskd., 78: 1705–1709.Google Scholar
Hamburg, A. 1970. Norrie's disease. Ophthalmologica, 160: 375–377.CrossRefGoogle ScholarPubMed
Hansen, A.C. 1968. Norrie's disease. Am. J. Ophthalmol., 66: 328–332.CrossRefGoogle ScholarPubMed
Harcourt, B. 1970. Hereditary nystagmus in early childhood. J. Med. Genet., 7: 253–256.Google Scholar
Harris, G.R., Miller, J.R. 1968. Choroideremia: visual defects in a heterozygote. Arch. Ophthalmol., 80: 423–429.Google Scholar
Heck, A.F. 1963. Presumptive X-linked intermediate transmission of retinal degenerations, variations and coincidental occurrence with ataxia in a large family. Arch. Ophthalmol., 70: 143–149.Google Scholar
Hemmes, G.D. 1924. Over hereditairen nystagmus. Thesis, Utrecht.Google Scholar
Herrmann, J., Opitz, J.M. 1969. The Lenz microphthalmia syndrome. Proc. 1 st. Confer. Clin. Delineation of Birth Defects. II. Malformation Syndromes. Birth Defects, Orig. Art. Ser., 5: 138–143.Google Scholar
Hoefnagel, D., Keenan, M.E., Allen, F.M. 1963, Heredo-familial bilateral anophthalmia. Arch. Ophthalmol., 69: 760–764.Google Scholar
Hoefnagel, D., Allen, F.H., Walker, M. 1969. Ocular albinism and Xg. Lancet, 1: 1314.Google Scholar
Holmes, L.B., MsGowan, B.L., Efron, M.L. 1969. Lowe's syndrome. A search for the carrier state. Pediatrics, 44: 358–363.Google Scholar
Holmes, L.B. - Norrie's disease. An X-linked syndrome of retinal malformation, mental retardation and deafness. N. Engl. J. Med., 284: 367–368.CrossRefGoogle Scholar
Holthuis, P. 1943. Keratosis follicularis spinulosa decalvans (Siemens). Ophthalmologica, 106: 325.Google Scholar
Hussels, I. 1967. Une famille atteinte de rétinopathie pigmentaire liée au sexe, de maladie de Parkinson et d'autres troubles neuropsychiatriques. J. Genet. Hum., 16: 106–155.Google Scholar
Hussels, I. 1971. X-linked cataract: two pedigrees. The Clinical Delineation of Birth Defects. Birth Defects, Orig. Art. Ser., 8: 164–165.Google Scholar
Jacobson, J.H., Stephens, G. 1962. Hereditary choroido-retinal degeneration. Arch. Ophthalmol., 67: 321–335.Google Scholar
Jaeger, W., Grützner, P. 1962. Der Funktionsverfall bei progressiver tapetochorioidealer Degeneration (Chorioideremia). Ophthalmologica, 143: 305–311.Google Scholar
Johnson, G.J., Gillan, J.G., Pearce, W.G. 1971. Ocular albinism in Newfoundland. Can. J. Ophthalmol., 6: 237–248.Google ScholarPubMed
Johnston, A.W., Frost, P., Spaeth, G.L., Renwick, J.H. 1969. Linkage relationships of the angiokeratoma (Fabry) locus. Ann. Hum. Genet., 32: 369–374.CrossRefGoogle ScholarPubMed
Johnkers, J.H. 1950. Hyperkeratosis follicularis and corneal degeneration. Ophthalmologica, 120: 365–367.Google Scholar
Jonkers, J.H. 1958. Personal communication to Franceschetti and Thier.Google Scholar
Kalmus, H. 1965. Diagnosis and Genetics of Defective Colour Vision. Pergamon Press, Oxford.Google Scholar
Katz, S.I., Penneys, N.S. 1971. Sebaceous gland papules in anhidrotic ectodermal dysplasia. Arch. Dermatol., 103: 507–509.Google Scholar
Kint, J.A. 1970. Fabry's disease. Alpha-galactosidase deficiency. Science, 167: 1268–1269.Google Scholar
Klein, D., Diallina, N., Covell, B. 1958. Une famille atteinte d'albinisme oculaire lié au sexe dans laquelle les conductrices présentent des altérations hétérozygotes typiques du fond de l'oeil. Arch. Julius-Klaus Stift. Vererbungsforsch., 33: 446–450.Google Scholar
Klein, D., Franceschetti, A., Hussels, I., Race, R.R., Sanger, R. 1967 a. X-linked retinitis pigmentosa and linkage studies with the Xg blood groups. Lancet, 1: 974–975.Google Scholar
Klein, D., Franceschetti, A., Hussels, I. 1967 b. La rétinite pigmentaire liée au sexe. La théorie de Mary Lyon et le problème du linkage des abiotrophies chorio-rétiniennes avec le groupe sanguin Xg. Arch. Julius-Klaus Stift. Vererbungsforsch., 42: 84–91.Google Scholar
Kobayashi, F. 1960. Genetic study on retinitis pigmentosa. Jap. J. Ophthalmol., 4: 82–88.Google Scholar
Krause, U., Vainio-Mattila, B., Eriksson, A., Forsius, H. 1970. Fluorescein angiographic studies on X-chromosomal retinoschisis. Acta Ophthalmol. (Kbh.), 48: 794–807.Google Scholar
Krill, A.E., Lee, G.B. 1963. The electroretinogram in albinos and carriers of the ocular albinotrait. Arch. Ophthalmol., 69: 32–38.CrossRefGoogle Scholar
Krill, A.E. 1967. Observations of carriers of X-chromosomal linked chorioretinal degenerations. Do these support the «inactivation hypothesis»? Am. J. Ophthalmol., 64: 1029–1040.Google ScholarPubMed
Krill, A.E. 1968. Congenital color-vision defects. In Symp. Surg. Med. Management of Cong. Anom. of the Eye. Trans. New Orleans Acad. Ophthal., Mosby Co., Saint Louis.Google Scholar
Krill, A.E., Woodbury, G., Bowman, J.E. 1969. X-chromosomal linked sutural cataracts. Am. J. Ophthalmol., 68: 867–872.CrossRefGoogle ScholarPubMed
Kuokkanen, K. 1971. Keratosis follicularis spinulosa decalvans in a family from Northern Finland. Acta Derm. Venereol. (Stockh.), 51: 146–150.Google Scholar
Kurtjens, J.M. 1965. Choroideremia and gyrate atrophy of choroida and retina. Doc. Ophthalmol., 19: 1–12.Google Scholar
Lameris, 1905. Ichthyosis follicularis. Ned. Tijdschr. Geneeskd., 41: 1524.Google Scholar
Lenz, W. 1955. Recessiv-geschlechtsgebundene Microphthalmie mit multiplen Missbildungen. Z. Kinderheilkd., 77: 384–390.Google Scholar
Lowe, C.V., Terrey, M., MacAchlan, E.A. 1952. Organic aciduria. Decreased renal ammonia production, hydrophthalmus, and mental retardation. A clinical entity. Am. J. Dis. Child., 84: 164.Google Scholar
Matton-Van Leuven, M.Th., Van Kets, H., Eeckhout, M., Thiery, M. 1972. Prenatale geslachtsbepaling door Fluorescentiemicroscopie. Tijdschr. Geneeskd., 15: 1015–1019.Google Scholar
McCulloch, J.P., McCulloch, R.J.P. 1948. A hereditary and clinical study of choroideremia. Trans. Am. Acad. Ophthalmol. Otolaryngol., 52: 160–190.Google ScholarPubMed
McKenzie, S.D. 1951. The inheritance of retinitis pigmentosa in one family. Trans. Ophthalmol. Soc. N.Z., 5: 79.Google Scholar
Nance, W.F., Haro, S., Hansen, A. 1969. Genetic linkage studies in a Negro kindred with Norrie's disease. Am. J. Hum. Genet., 21: 423–429.Google Scholar
Norrie, G. 1927. Causes of blindness in children. Acta Ophthalmol. (Kbh.), 5: 357–386.Google Scholar
Orth, V. 1956. Ocular albinism with changes typical of carriers in a Danish family. Br. J. Ophthalmol., 40: 721–729.Google Scholar
Olinsky, A., Thomson, P.D. 1970. Anhidrotic ectodermal dysplasia. Presentation in the neonatal period. S. Afr. Med. J., 44: 1234–1235.Google Scholar
Opitz, M., Stiles, F.C., Wise, D., Race, R.R., Sanger, R., Von Gemmingen, G., Kierland, R.R., Cross, E.G., De Groot, W.P. 1965. The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage relations with the Xg locus. Am. J. Hum. Genet., 17: 325:342.Google Scholar
Other, A. 1968. Choroideremia and the Xg blood group. Acta Ophthalmol. (Kbh.), 46: 79–82.Google Scholar
Pallisgaard, G., Goldschmidt, E. 1971. The oculo-cerebro-renal syndrome of Lowe in four generations of one family. Acta Paediat., 60: 146–148.Google Scholar
Pearce, W.G., Sanger, R., Race, R.R. 1968. Ocular albinism and Xg. Lancet, 1: 1280–1283.Google Scholar
Pearce, W.G., Johnson, G.J., Gillan, J.G. 1972. Nystagmus in a female carrier of ocular albinism. J. Med. Genet., 9: 126–128.Google Scholar
Race, R.R., Sanger, R. 1968. Blood Groups in Man. Blackwell Scientific Publications, Oxford and Edinburg, 5th Ed.Google Scholar
Rahman, A.N. 1963. The ocular manifestations in hereditary distopic lipidosis (angiokeratoma corporis diffusum universale). Arch. Ophthalmol., 69: 708–716.Google Scholar
Reed, W.B., Lopez, D.A., Landing, B. 1970. Clinical spectrum of anhidrotic ectodermal dysplasia. Arch. Dermatol., 102: 134–143.Google Scholar
Renwick, J.H. 1968. Cited by Race R.R. and Sanger R. 1968.Google Scholar
Ricci, A., Ammann, F., Franceschetti, A. 1963. Reflet tapétoide réversible (phénomène de Mizuo inverse) chez les conductrices de rétinopathie pigmentaire récessive liée au sexe. Bull. Soc. Fr. Ophtalmol., 76: 31–35.Google Scholar
Ricci, A. 1969. Les dysplasies hyaloïdes rétiniennes congénitales et leur diagnostic différentiel. J. Genet. Hum. (Suppl.), 17: 1–181.Google Scholar
Richards, W., Donneil, G.N., Wilson, W.A., Stowens, D. Perry, T. 1965. The oculo-cerebro-renal syndrome of Lowe. Am. J. Dis. Child., 109: 185–203.Google Scholar
Rieger, H. 1944. Ueber zwei bemerkenswerte Fälle von beidseitiger, idiopathischer Netzhautabhebung bei jugendlichen Hypermetropen. Klin. Monatsbl. Augenheilkd., 110: 86–88.Google Scholar
Rieger, R., Michaelis, A., Green, M.M. 1968. A Glossary of Genetics and Cytogenetics. Springer Verlag, Berlin-Heidelberg-New York, 3rd Ed.Google Scholar
Roberts, J.A.F. 1959. Introduction to Medical Genetics. Oxford University Press, London., p. 182.Google Scholar
Rochat, G.F. 1906. Familiaire cornea degeneratie. Ned. Tijdschr. Geneeskd., 42: 515–518.Google Scholar
Sabates, F.N. 1966. Juvenile retinoschisis. Am. J. Ophthalmol., 62: 683–688.Google Scholar
Salleras, A., Ortiz De Zarate, J.C. 1950. Recessive sex-linked inheritance of external ophthalmoplegia and myopia coincident with other dysplasias. Br. J. Ophthalmol., 34: 662–667.CrossRefGoogle ScholarPubMed
Schmidt, I. 1934. Über manifeste Heterozygotie bei Konduktorinnen für Farbensinnstörungen. Klin. Monatsbl. Augenheilkd., 92: 456–467.Google Scholar
Schmidt, I. 1955. A sign of manifest heterozygosity in carriers of colour deficiency. Am. J. Optom., 32: 404–408.Google Scholar
Schmidt, I. 1970. On congenital tritanomaly. Vision Res., 10: 717–743.CrossRefGoogle ScholarPubMed
Scholten, H.G. 1960. Een meisje met het syndroom van Lowe. Maandschr. Kindergeneeskd., 28: 251–255.Google Scholar
Schubert, G., Bornschein, H. 1952. Beitrag zur Analyse des menschlichen Elektroretinograms. Ophthalmologica, 123: 396–413.Google Scholar
Siemens, H.W. 1925. Über einen in der menschlichen Pathologie noch nicht beobachteten Vererbungsmodus: dominant-geschlechtsgebundene Vererbung. Arch. Rassen- Ges. Biol., 17: 47–67.Google Scholar
Singh, A., Jolly, S., Kaur, S. 1962. Hereditary ectodermal dysplasia. Br. J. Dermatol., 74: 34–37.Google Scholar
Sjögren, P., Larsson, T. 1949. Microphthalmia and anophthalmia with or without coincident oligophrenia. A clinical and genetic statistical study. Acta Psycho-Neurol. (Suppl.) (Stockh.), 56.Google Scholar
Snyder, U.W., Klunker, W. 1966. Erbliche Verhornungsanomalien der Haut. In Jadassohn, J.: Handbuch der Haut und Geschlechtskrankheiten. Ed. Springer Verlag, Berlin-Heidelberg, 8: p. 861.Google Scholar
Sorsby, A. 1951. Genetics in Ophthalmology. Butterworth, London, pp. 165–167.Google Scholar
Sorsby, A., Franceschetti, A., Joseph, R., Davey, J.B. 1952. Choroideremia. Clinical and genetic aspects. Br. J. Ophthalmol., 36: 547–581.Google Scholar
Sorsby, A., Savory, M. 1956. Choroidal sclerosis. A possible intermediate sex-linked form. Br. J. Ophthalmol., 40: 90–95.Google Scholar
Spivey, B.E., Pearlman, J.M., Burian, M.M. 1964. Electroretinographic findings (including flicker) in carriers of congenital X-linked achromatopsia. Doc. Ophthalmol., 18: 367.Google Scholar
Spivey, B.E. 1965. The X-linked recessive inheritance of atypical monochromatism. Arch. Ophthalmol., 74: 327–333.Google Scholar
Stankovic, J. 1958. L'angiosclérose familiale liée au sexe. Bull. Mem. Soc. Fr. Ophtalmol., 71: 411–417.Google Scholar
Stepanik, J. 1969. Beidseitige idiopathische Retinoschisis bei einem 4 Jahre alten Knaben. Klin. Monatsbl. Augenheilkd., 155: 55–56.Google Scholar
Stephens, F.E. 1947. A case of sex-linked microphthalmia. J. Hered., 38: 306–310.Google Scholar
Stieren, E. 1907. A study in atavistic descent of congenital cataract through four generations. Ophthalmol. Rec., 16: 234.Google Scholar
Streiff, E.B., Straub, W., Golay, L. 1958. Les manifestations oculaires du syndrome de Lowe. Ophthalmologica, 135: 632–639.CrossRefGoogle ScholarPubMed
Svorc, J., Masopust, J., Komarkova, A., Macek, M., Hyanek, J. 1967. Oculo-cerebro-renal syndrome in a female child. Am. J. Dis. Child., 114: 186–190.Google Scholar
Thelen, 1940. Keratosis follicularis spinulosa decalvans. Zentralbl. Haut- Geschlechtskr., 65: 5.Google Scholar
Thompson, A.H. 1901. Superficial choroidal atrophy without subjective symptoms in a member of a family subject of night-blindness. (Diseases of the retina and choroid). Trans. Ophthalmol. Soc. U.K, 21: 66.Google Scholar
Vainio-Mattila, B., Eriksson, A.W., Forsius, H. 1969. X-chromosomal recessive retinoschisis in the region of Pori. An ophthalmo-genetical analysis of 103 cases. Acta Ophthalmol., (Kbh.), 47: 1135–1148.Google Scholar
Van Den Bosch, J. 1959. A new syndrome in three generations of a Dutch family. Ophthalmologica, 137: 422.Google Scholar
Van Vliet, A.G.M., Waardenburg, P.J., Forsiis, H., Eriksson, A.W. 1972. Nystagmographical studies in Äland Eye Disease. Proc. 3rd Int. Congr. Neuro-Genet. and Neuro-Ophthal., Brussels 1970. Monogr. Hum. Genet., 6: 205. Karger, Basel.Google Scholar
Varelmann, H. 1925. Die Vererbung der Hemeralopie mit Myopie. Ein Beitrag zur Vererbung der geschlechtsgebundenen Krankheiten. Arch. Augenheilkd., 96: 385–405.Google Scholar
Vogt, A. 1942. Die Iris bei Albinismus solum bulbi. Atlas Spaltlampen-Mikroskopie, 3: 846–847. F. Enke, Stuttgart.Google Scholar
Von Gemmingen, G., Kierland, R.R., Opitz, J.M. 1965. Angiokeratoma corporis diffusum (Fabry's disease). Arch. Dermatol., 91: 206–218.Google Scholar
Waardenburg, P.J., Van den Bosch, J. 1956. X-chromosomal ocular abinism in a Dutch family. Ann. Hum. Genet., 21: 101–122.Google Scholar
Waardenburg, P.J., Franceschetti, A., Klein, D. 1961, 1963. Genetics and Ophthalmology. Royal van Gorcum, Assen, Netherlands.Google Scholar
Waardenburg, P.J., Eriksson, A.W., Forsius, H. 1969. Äland eye disease (Syndrome Forsius-Eriksson). Proc. 2nd Int. Congr. Neuro-Genet. Neuro-Ophthal., Montreal, 17-23 September 1967. Int. Congr. Ser. Exc. Med. Found., pp. 353–356.Google Scholar
Waardenburg, P.J. 1970. Some notes on publications of Professor Arnold Sorsby and on Äland eye disease. J. Med. Genet., 7: 194–199.Google Scholar
Wald, G. 1966. Defective color vision and its inheritance. Proc. Natl. Acad. Sei. USA, 55: 1347–1363.CrossRefGoogle ScholarPubMed
Walls, G., Mathews, R.W. 1952. New means of studying colour-vision and normal foveal colour-vision. Univ. Calif. Publ. Psychol., 7: 1–172.Google Scholar
Warburg, M. 1961. Norrie's disease. A new hereditary bilateral pseudo-tumour of the retina. Acta Ophthalmol. (Kbh.), 39: 757–772.Google Scholar
Warburg, M., Hauge, M., Sanger, R. 1965. Norrie's disease and the Xg blood group system: linkage data. Acta Genet. (Basel), 15: 103–115.Google Scholar
Warburg, M. 1966. Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration. Acta Ophthalmol. (Kbh.) (Suppl.), 89: 1–147.Google Scholar
Warburg, M., Simonsen, S.E. 1968. Sex-linked recessive retinitis pigmentosa. A preliminary study of the carriers. Acta Ophthalmol. (Kbh.) 46: 494–499.Google Scholar
Warburg, M. 1971 a. Choroideremia and sex-linked retinitis. 4th Int. Congr. Hum. Genet., Exc. Med. Int. Congr. Ser. n. 233.Google Scholar
Warburg, M. 1971 b. Norrie's disease. In: The Clinical Delineation of Birth Defects. VIII Eye. Ed. Williams, and Wilkins, , Baltimore, pp. 17–124.Google Scholar
Warburg, M. 1972. Diagnosis of Metabolic Eye Diseases. Scand. Univ. Books, Munksgaard, Copenhagen.Google Scholar
Weiner, R.L., Falls, H.F. 1955. Intermediate sex-linked retinitis pigmentosa. Arch. Ophthalmol., 53: 530–535.Google Scholar
Whittaker, D.L., Copeland, D.L., Graham, J.B. 1962. Linkage of color blindness to hemophilias A and B Am. J. Hum. Genet., 14: 149–158.Google Scholar
Wilmer, W.H. 1934. Atlas Fundi Oculi (plate 82). The Mac Millan Cy, New York.Google Scholar
Wilson, W.A., Richards, W., Donnell, G.N. 1963. Oculo-cerebral-renal syndrome of Lowe: a review of eight cases, noting genetic inheritance. Arch. Ophthalmol., 70: 5–11.Google Scholar
Wise, D., Wallace, H.J., Jellinck, E.H. 1962. Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q.J. Med., 31: 177–206.Google Scholar
Yanoff, M., Kertesz Rahn, K., Zimmermann, L.E. 1968. Histopathology of juvenile retinoschisis. Arch. Ophthalmol., 79: 49–53.Google Scholar