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. 1969;67:535–608.

X-chromosomal-linked diseases affecting the eye: status of the heterozygote female.

A E Krill
PMCID: PMC1310352  PMID: 4985894

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Selected References

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  1. ALPERN M., LEE G. B., SPIVEY B. E. PI-1 CONE MONOCHROMATISM. Arch Ophthalmol. 1965 Sep;74:334–337. doi: 10.1001/archopht.1965.00970040336008. [DOI] [PubMed] [Google Scholar]
  2. Abbassi V., Lowe C. U., Calcagno P. L. Oculo-cerebro-renal syndrome. A review. Am J Dis Child. 1968 Feb;115(2):145–168. doi: 10.1001/archpedi.1968.02100010147003. [DOI] [PubMed] [Google Scholar]
  3. BALIAN J. V., FALLS H. F. Congenital vascular veils in the vitreous; hereditary retinoschisis. Arch Ophthalmol. 1960 Jan;63:92–101. doi: 10.1001/archopht.1960.00950020094014. [DOI] [PubMed] [Google Scholar]
  4. BEUTLER E., BALUDA M. C. THE SEPARATION OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE-DEFICIENT ERYTHROCYTES FROM THE BLOOD OF HETEROZYGOTES FOR GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY. Lancet. 1964 Jan 25;1(7326):189–192. doi: 10.1016/s0140-6736(64)92286-x. [DOI] [PubMed] [Google Scholar]
  5. BEUTLER E., YEH M., FAIRBANKS V. F. The normal human female as a mosaic of X-chromosome activity: studies using the gene for C-6-PD-deficiency as a marker. Proc Natl Acad Sci U S A. 1962 Jan 15;48:9–16. doi: 10.1073/pnas.48.1.9. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. BRUYN G. W., WENT L. N. A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES. J Neurol Sci. 1964 Jan-Feb;1(1):59–80. doi: 10.1016/0022-510x(64)90054-1. [DOI] [PubMed] [Google Scholar]
  7. Barr M. L. The sex chromosomes in evolution and in medicine. Can Med Assoc J. 1966 Nov 26;95(22):1137–1148. [PMC free article] [PubMed] [Google Scholar]
  8. Beighton P. X-linked recessive inheritance in the Ehlers-Danlos syndrome. Br Med J. 1968 Aug 17;3(5615):409–411. doi: 10.1136/bmj.3.5615.409. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Bengtsson B., Linder B. Sex-linked hereditary juvenile retinoschisis: presentation of two affected families. Acta Ophthalmol (Copenh) 1967;45(3):411–423. doi: 10.1111/j.1755-3768.1967.tb06506.x. [DOI] [PubMed] [Google Scholar]
  10. Blattner R. J. Hereditary ectodermal dysplasia. J Pediatr. 1968 Sep;73(3):444–447. doi: 10.1016/s0022-3476(68)80128-3. [DOI] [PubMed] [Google Scholar]
  11. Brady R. O., Gal A. E., Bradley R. M., Martensson E., Warshaw A. L., Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967 May 25;276(21):1163–1167. doi: 10.1056/NEJM196705252762101. [DOI] [PubMed] [Google Scholar]
  12. Burns C. A. Indomethacin, reduced retinal sensitivity, and corneal deposits. Am J Ophthalmol. 1968 Nov;66(5):825–835. doi: 10.1016/0002-9394(68)92796-7. [DOI] [PubMed] [Google Scholar]
  13. CALKINS L. L. Corneal epithelial changes occurring during chloroquine (aralen) therapy. AMA Arch Ophthalmol. 1958 Dec;60(6):981–988. doi: 10.1001/archopht.1958.00940081001001. [DOI] [PubMed] [Google Scholar]
  14. CAPELLA J. A., KAUFMAN H. E., LILL F. J. HEREDITARY CATARACTS AND MICROPHTHALMIA. Am J Ophthalmol. 1963 Sep;56:454–458. doi: 10.1016/0002-9394(63)93132-5. [DOI] [PubMed] [Google Scholar]
  15. CRONE R. A. Spectral sensitivity in color-defective subjects and heterozygous carriers. Am J Ophthalmol. 1959 Aug;48(2):231–238. doi: 10.1016/0002-9394(59)91239-5. [DOI] [PubMed] [Google Scholar]
  16. Chutorian A., Rowland L. P. Lowe's syndrome. Neurology. 1966 Feb;16(2):115–122. doi: 10.1212/wnl.16.2_part_1.115. [DOI] [PubMed] [Google Scholar]
  17. Curth H. O., Warburton D. The genetics of incontinentia pigmenti. Arch Dermatol. 1965 Sep;92(3):229–235. [PubMed] [Google Scholar]
  18. Curtin V. T., Joyce E. E., Ballin N. Ocular pathology in the oculo-cerebro-renal syndrome of Lowe. Am J Ophthalmol. 1967 Sep;64(3 Suppl):533–543. doi: 10.1016/0002-9394(67)90556-9. [DOI] [PubMed] [Google Scholar]
  19. DAVIDSON R. G., NITOWSKY H. M., CHILDS B. DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS. Proc Natl Acad Sci U S A. 1963 Sep;50:481–485. doi: 10.1073/pnas.50.3.481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. DAVIDSON W. M., SMITH D. R. A morphological sex difference in the polymorphonuclear neutrophil leucocytes. Br Med J. 1954 Jul 3;2(4878):6–7. doi: 10.1136/bmj.2.4878.6. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. DOEGE T. C., THULINE H. C., PRIEST J. H., NORBY D. E., BRYANT J. S. STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME. N Engl J Med. 1964 Nov 19;271:1073–1078. doi: 10.1056/NEJM196411192712101. [DOI] [PubMed] [Google Scholar]
  22. Danes B. S., Bearn A. G. Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis. J Exp Med. 1967 Sep 1;126(3):509–522. doi: 10.1084/jem.126.3.509. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Danes B. S., Bearn A. G. Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture. Science. 1965 Aug 27;149(3687):987–989. doi: 10.1126/science.149.3687.987. [DOI] [PubMed] [Google Scholar]
  24. FALLS H. F. The role of the sex chromosome in hereditary ocular pathology. Trans Am Ophthalmol Soc. 1952;50:421–467. [PMC free article] [PubMed] [Google Scholar]
  25. FINDLAY G. H. On the pathogenesis of incontinentia pigmenti, with observations on an associated eye disturbance resembling retrolental fibroplasia. Br J Dermatol. 1952 Apr;64(4):141–146. doi: 10.1111/j.1365-2133.1952.tb16177.x. [DOI] [PubMed] [Google Scholar]
  26. FONDA G. Characteristics and low-vision corrections in albinism. A report of 161 patients. Arch Ophthalmol. 1962 Dec;68:754–761. doi: 10.1001/archopht.1962.00960030758010. [DOI] [PubMed] [Google Scholar]
  27. FRANCESCHETTI A., JACCOTTET M., JADASSOHN W. Manifestations cornéennes dans la keratosis follicularis spinulosa decalvans (Siemens). Ophthalmologica. 1957 Apr-May;133(4-5):259–263. doi: 10.1159/000303108. [DOI] [PubMed] [Google Scholar]
  28. Forsius H., Vainio-Mattila B., Eriksson A. X-LINKED HEREDITARY RETINOSCHISIS. Br J Ophthalmol. 1962 Nov;46(11):678–681. doi: 10.1136/bjo.46.11.678. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Fraccaro M., Morone G., Manfredini U., Sanger R. X-linked cataract. Ann Hum Genet. 1967 Aug;31(1):45–50. [PubMed] [Google Scholar]
  30. Fraser G. R., Friedmann A. I. Choroideremia in a female. Br Med J. 1968 Jun 22;2(5607):732–734. doi: 10.1136/bmj.2.5607.732. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Frost P., Tamala Y., Spaeth G. L. Fabry's disease--glycolipid lipidosis. Histochemical and electron microscopic studies of two cases. Am J Med. 1966 Apr;40(4):618–627. doi: 10.1016/0002-9343(66)90123-9. [DOI] [PubMed] [Google Scholar]
  32. Frost P., Van Scott E. J. Ichthyosiform dermatoses. Classification based on anatomic and biometric observations. Arch Dermatol. 1966 Aug;94(2):113–126. doi: 10.1001/archderm.94.2.113. [DOI] [PubMed] [Google Scholar]
  33. GARB J. Dyskeratosis congenita with pigmentation, dystrophia unguium, and leukoplakia oris; a follow-up report of two brothers. AMA Arch Derm. 1958 Jun;77(6):704–712. doi: 10.1001/archderm.1958.01560060070012. [DOI] [PubMed] [Google Scholar]
  34. GIESER E. P., FALLS H. F. Hereditary retinoschisis. Am J Ophthalmol. 1961 Jun;51:1193–1200. doi: 10.1016/0002-9394(61)92457-6. [DOI] [PubMed] [Google Scholar]
  35. GILLESPIE F. D., COVELLI B. CARRIERS OF OCULAR ALBINISM WITH AND WITHOUT OCULAR CHANGES. Arch Ophthalmol. 1963 Aug;70:209–213. doi: 10.1001/archopht.1963.00960050211012. [DOI] [PubMed] [Google Scholar]
  36. GOODMAN G., RIPPS H., SIEGEL I. M. SEX-LINKED OCULAR DISORDERS: TRAIT EXPRESSIVITY IN MALES AND CARRIER FEMALES. Arch Ophthalmol. 1965 Mar;73:387–398. doi: 10.1001/archopht.1965.00970030389018. [DOI] [PubMed] [Google Scholar]
  37. Gills J. P., Hobson R., Hanley W. B., McKusick V. A. Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses. Arch Ophthalmol. 1965 Nov;74(5):596–603. doi: 10.1001/archopht.1965.00970040598003. [DOI] [PubMed] [Google Scholar]
  38. Goldberg M. F., Duke J. R. Ocular histopathology in Hunter's syndrome. Systemic mucopolysaccharidosis type II. Arch Ophthalmol. 1967 Apr;77(4):503–512. doi: 10.1001/archopht.1967.00980020505013. [DOI] [PubMed] [Google Scholar]
  39. Goldberg M. F., Maumenee A. E., McKusick V. A. Corneal dystrophies associated with abnormalities of mucopolysaccharide metabolism. Arch Ophthalmol. 1965 Oct;74(4):516–520. doi: 10.1001/archopht.1965.00970040518013. [DOI] [PubMed] [Google Scholar]
  40. Grüneberg H. Sex-linked genes in man and Lyon hypothesis. Ann Hum Genet. 1967 Jan;30(3):239–257. doi: 10.1111/j.1469-1809.1967.tb00025.x. [DOI] [PubMed] [Google Scholar]
  41. HIRSCHHORN K., FIRSCHEIN I. L. GENETIC ACTIVITY OF THE X-CHROMOSOME IN MAN. Trans N Y Acad Sci. 1964 Mar;26:545–552. doi: 10.1111/j.2164-0947.1964.tb01492.x. [DOI] [PubMed] [Google Scholar]
  42. HOEFNAGEL D., KEENAN M. E., ALLEN F. H., Jr Heredofamilial bilateral anophthalmia. Arch Ophthalmol. 1963 Jun;69:760–764. doi: 10.1001/archopht.1963.00960040766015. [DOI] [PubMed] [Google Scholar]
  43. HUBBARD T. F., KOSZEWSKI B. J. Congenital anemia in hereditary ectodermal dysplasia. AMA Arch Derm. 1956 Aug;74(2):159–166. doi: 10.1001/archderm.1956.01550080045007. [DOI] [PubMed] [Google Scholar]
  44. Harris G. S., Miller J. R. Choroideremia. Visual defects in a heterozygote. Arch Ophthalmol. 1968 Oct;80(4):423–429. doi: 10.1001/archopht.1968.00980050425003. [DOI] [PubMed] [Google Scholar]
  45. Hoare G. W. Choroido-retinal dystrophy. Br J Ophthalmol. 1965 Sep;49(9):449–459. doi: 10.1136/bjo.49.9.449. [DOI] [PMC free article] [PubMed] [Google Scholar]
  46. JACOBSON J. H., STEPHENS G. Hereditary choroidoretinal degeneration. Study of a family including electroretinography and adaptometry. Arch Ophthalmol. 1962 Mar;67:321–335. doi: 10.1001/archopht.1962.00960020323009. [DOI] [PubMed] [Google Scholar]
  47. JOHNSTON A. W., McKUSICK V. A. A sex-linked recessive form of spastic paraplegia. Am J Hum Genet. 1962 Mar;14:83–94. [PMC free article] [PubMed] [Google Scholar]
  48. JONKERS G. H. Hyperkeratosis follicularis and cornea degeneration. Ophthalmologica. 1950 Nov;120(5):365–367. doi: 10.1159/000300909. [DOI] [PubMed] [Google Scholar]
  49. Jones S. T. Retrolental membrane associated with Bloch-Sulzberger syndrome (incontinentia pigmenti). Am J Ophthalmol. 1966 Aug;62(2):330–334. doi: 10.1016/0002-9394(66)91493-0. [DOI] [PubMed] [Google Scholar]
  50. KRILL A. E., LEE G. B. The electroretinogram in albinos and carriers of the ocular albino trait. Arch Ophthalmol. 1963 Jan;69:32–38. doi: 10.1001/archopht.1963.00960040038008. [DOI] [PubMed] [Google Scholar]
  51. KRILL A. E., SCHNEIDERMAN A. A HUE DISCRIMINATION DEFECT IN SO-CALLED NORMAL CARRIERS OF COLOR VISION DEFECTS. Invest Ophthalmol. 1964 Aug;3:445–450. [PubMed] [Google Scholar]
  52. KRILL A. E. TOTAL COLOR BLINDNESS AND ALBINISM. TWO CAUSES OF SUBNORMAL VISUAL ACUITY IN CHILDREN. Postgrad Med. 1965 Mar;37:279–283. doi: 10.1080/00325481.1965.11696770. [DOI] [PubMed] [Google Scholar]
  53. Kerr C. B., Wells R. S., Cooper K. E. Gene effect in carriers of anhidrotic ectodermal dysplasia. J Med Genet. 1966 Sep;3(3):169–176. doi: 10.1136/jmg.3.3.169. [DOI] [PMC free article] [PubMed] [Google Scholar]
  54. Klein D., Franceschetti A., Hussels I., Race R. R., Sanger R. X-linked retinitis pigmentosa and linkage studies with the Xg blood-groups. Lancet. 1967 May 6;1(7497):974–975. doi: 10.1016/s0140-6736(67)92357-4. [DOI] [PubMed] [Google Scholar]
  55. Krill A. E., Beutler E. Red-Light Thresholds in Heterozygote Carriers of Protanopia: Genetic Implications. Science. 1965 Jul 9;149(3680):186–188. doi: 10.1126/science.149.3680.186. [DOI] [PubMed] [Google Scholar]
  56. Krill A. E., Klien B. A. Flecked retina syndrome. Arch Ophthalmol. 1965 Oct;74(4):496–508. doi: 10.1001/archopht.1965.00970040498011. [DOI] [PubMed] [Google Scholar]
  57. Krill A. E., Morse P. A., Potts A. M., Klien B. A. Hereditary vitelliruptive macular degeneration. Am J Ophthalmol. 1966 Jun;61(6):1405–1415. doi: 10.1016/0002-9394(66)90478-8. [DOI] [PubMed] [Google Scholar]
  58. Krill A. E. Observations of carriers of X-chromosomal-linked chorioretinal degenerations. Do these support the "inactivation hypothesis"? Am J Ophthalmol. 1967 Dec;64(6):1029–1040. doi: 10.1016/0002-9394(67)93055-3. [DOI] [PubMed] [Google Scholar]
  59. Krill A. E. The electroretinographic and electrooculographic findings in patients with macular lesions. Trans Am Acad Ophthalmol Otolaryngol. 1966 Nov-Dec;70(6):1063–1083. [PubMed] [Google Scholar]
  60. Krill A. E., Woodbury G., Bowman J. E. X-chromosomal-linked sutural cataracts. Am J Ophthalmol. 1969 Nov;68(5):867–872. doi: 10.1016/0002-9394(69)94582-6. [DOI] [PubMed] [Google Scholar]
  61. LENZ W. Recessiv-geschlechtsgebundene Mikrophthalmie mit multiplen Missbildungen. Z Kinderheilkd. 1955;77(4):384–390. [PubMed] [Google Scholar]
  62. LEVY J. Inherited retinal detachment. Br J Ophthalmol. 1952 Nov;36(11):626–636. doi: 10.1136/bjo.36.11.626. [DOI] [PMC free article] [PubMed] [Google Scholar]
  63. LOWE C. U., TERREY M., MacLACHLAN E. A. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child. 1952 Feb;83(2):164–184. doi: 10.1001/archpedi.1952.02040060030004. [DOI] [PubMed] [Google Scholar]
  64. LYON M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961 Apr 22;190:372–373. doi: 10.1038/190372a0. [DOI] [PubMed] [Google Scholar]
  65. LYON M. F. Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet. 1962 Jun;14:135–148. [PMC free article] [PubMed] [Google Scholar]
  66. MARTY S. D., BECHTEL H. B., WOOD C. E. Incontinentia pigmenti: report of a family. AMA Arch Derm. 1958 Nov;78(5):607–611. doi: 10.1001/archderm.1958.01560110053007. [DOI] [PubMed] [Google Scholar]
  67. MENKES J. H., ALTER M., STEIGLEDER G. K., WEAKLEY D. R., SUNG J. H. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. 1962 May;29:764–779. [PubMed] [Google Scholar]
  68. MORISHIMA A., GRUMBACH M. M., TAYLOR J. H. Asynchronous duplication of human chromosomes and the origin of sex chromatin. Proc Natl Acad Sci U S A. 1962 May 15;48:756–763. doi: 10.1073/pnas.48.5.756. [DOI] [PMC free article] [PubMed] [Google Scholar]
  69. OHNO S., CATTANACH B. M. Cytological study of an X-autosome translocation in Mus musculus. Cytogenetics. 1962;1:129–140. [PubMed] [Google Scholar]
  70. OHNO S., KAPLAN W. D., KINOSITA R. Formation of the sex chromatin by a single X-chromosome in liver cells of Rattus norvegicus. Exp Cell Res. 1959 Oct;18:415–418. doi: 10.1016/0014-4827(59)90031-x. [DOI] [PubMed] [Google Scholar]
  71. PAMEYER J. K., WAARDENBURG P. J., HENKES H. E. Choroid eremia. Br J Ophthalmol. 1960 Dec;44:724–738. doi: 10.1136/bjo.44.12.724. [DOI] [PMC free article] [PubMed] [Google Scholar]
  72. PEARSON C. M., FOWLER W. M., WRIGHT S. W. X-chromosome mosaicism in females with muscular dystrophy. Proc Natl Acad Sci U S A. 1963 Jul;50:24–31. doi: 10.1073/pnas.50.1.24. [DOI] [PMC free article] [PubMed] [Google Scholar]
  73. PICKFORD R. W., LITT D. Some heterozygous manifestations of colour blindness. Br J Physiol Opt. 1959 Apr;16(2):83–95. [PubMed] [Google Scholar]
  74. RAHMAN A. N. The ocular manifestations of hereditary dystopic lipidosis (angiokeratoma corporis diffusum universale). Arch Ophthalmol. 1963 Jun;69:708–716. doi: 10.1001/archopht.1963.00960040714005. [DOI] [PubMed] [Google Scholar]
  75. Rahn E. K., Yanoff M., Tucker S. Neuro-ocular considerations in the Pelizaeus-Merzbacher syndrome. A clinicopathologic study. Am J Ophthalmol. 1968 Dec;66(6):1143–1151. doi: 10.1016/0002-9394(68)90825-8. [DOI] [PubMed] [Google Scholar]
  76. Reed W. B., Carter C., Cohen T. M. Incontinentia Pigmenti. Dermatologica. 1967;134(4):243–250. doi: 10.1159/000254299. [DOI] [PubMed] [Google Scholar]
  77. Rimoin D. L., Edgerton M. T. Genetic and clinical heterogeneity in the oral-facial-digital syndromes. J Pediatr. 1967 Jul;71(1):94–102. doi: 10.1016/s0022-3476(67)80236-1. [DOI] [PubMed] [Google Scholar]
  78. Rucker C. W. Sex-linked nystagmus associated with red-green color-blindness. Am J Hum Genet. 1949 Sep;1(1):52–54. [PMC free article] [PubMed] [Google Scholar]
  79. SCHWARTZ R., HALL P. W., 3rd, GABUZDA G. J., Jr METABOLISM OF ORNITHINE AND OTHER AMINO ACIDS IN THE CEREBRO-OCULO-RENAL SYNDROME. Am J Med. 1964 May;36:778–786. doi: 10.1016/0002-9343(64)90185-8. [DOI] [PubMed] [Google Scholar]
  80. SORSBY A., FRANCESCHETTI A., JOSEPH R., DAVEY J. B. Choroideremia; clinical and genetic aspects. Br J Ophthalmol. 1952 Oct;36(10):547–581. doi: 10.1136/bjo.36.10.547. [DOI] [PMC free article] [PubMed] [Google Scholar]
  81. SORSBY A., SAVORY M. Choroidal sclerosis; a possible intermediate sex-linked form. Br J Ophthalmol. 1956 Feb;40(2):90–95. doi: 10.1136/bjo.40.2.90. [DOI] [PMC free article] [PubMed] [Google Scholar]
  82. SPIVEY B. E., PEARLMAN J. T., BURIAN H. M. ELECTRORETINOGRAPHIC FINDINGS (INCLUDING FLICKER) IN CARRIERS OF CONGENITAL X-LINKED ACHROMATOPSIA. Doc Ophthalmol. 1964;18:367–375. doi: 10.1007/BF00160588. [DOI] [PubMed] [Google Scholar]
  83. SPIVEY B. E. THE X-LINKED RECESSIVE INHERITANCE OF ATYPICAL MONOCHROMATISM. Arch Ophthalmol. 1965 Sep;74:327–333. doi: 10.1001/archopht.1965.00970040329007. [DOI] [PubMed] [Google Scholar]
  84. SWEELEY C. C., KLIONSKY B. FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. J Biol Chem. 1963 Sep;238:3148–3150. [PubMed] [Google Scholar]
  85. Saebø J. ATROPHIA GYRATA CHOROIDEAE ET RETINAE. Br J Ophthalmol. 1948 Nov;32(11):824–847. doi: 10.1136/bjo.32.11.824. [DOI] [PMC free article] [PubMed] [Google Scholar]
  86. Seedorff T. Leber's disease. II. Acta Ophthalmol (Copenh) 1968;46(5):985–992. doi: 10.1111/j.1755-3768.1968.tb00937.x. [DOI] [PubMed] [Google Scholar]
  87. Seelenfreund M. H., Gartner S., Vinger P. F. The ocular pathology of Menkes' disease. (Kinky hair disease). Arch Ophthalmol. 1968 Dec;80(6):718–720. doi: 10.1001/archopht.1968.00980050720007. [DOI] [PubMed] [Google Scholar]
  88. Sever R. J., Frost P., Weinstein G. Eye changes in ichthyosis. JAMA. 1968 Dec 2;206(10):2283–2286. [PubMed] [Google Scholar]
  89. Spaeth G. L., Frost P. Fabry's disease. Its ocular manifestations. Arch Ophthalmol. 1965 Dec;74(6):760–769. doi: 10.1001/archopht.1965.00970040762005. [DOI] [PubMed] [Google Scholar]
  90. Svorc J., Masopust J., Komárková A., Macek M., Hyánek J. Oculocerebrorenal syndrome in a female child. Am J Dis Child. 1967 Aug;114(2):186–190. [PubMed] [Google Scholar]
  91. TAYLOR P. J., COATES T., NEWHOUSE M. L. Episkopi blindness; hereditary blindness in a Greek Cypriot family. Br J Ophthalmol. 1959 Jun;43(6):340–344. doi: 10.1136/bjo.43.6.340. [DOI] [PMC free article] [PubMed] [Google Scholar]
  92. Thomson E. MEMORANDUM: Regarding a Family in which Neuro-Retinal Disease of an unusual kind occurred only in the Males. Br J Ophthalmol. 1932 Dec;16(12):681–686. doi: 10.1136/bjo.16.12.681. [DOI] [PMC free article] [PubMed] [Google Scholar]
  93. VAN DEN BOSCH J., WAARDENBURG P. J. X-chromosomal ocular albinism in a Dutch family. Ann Hum Genet. 1956 Nov;21(2):101–122. doi: 10.1111/j.1469-1809.1971.tb00270.x. [DOI] [PubMed] [Google Scholar]
  94. VANDENBERG S. G., McKUSICK V. A., McKUSICK A. B. Twin data in support of the Lyon hypothesis. Nature. 1962 May 5;194:505–506. doi: 10.1038/194505b0. [DOI] [PubMed] [Google Scholar]
  95. WALLS G. L., MATHEWS R. W. New means of studying color blindness and normal foveal color vision, with some results and their genetical implications. Publ Psychol. 1952 Apr 29;7(1):1–172. [PubMed] [Google Scholar]
  96. WALLS G. L. Peculiar color blindness in peculiar people. AMA Arch Ophthalmol. 1959 Jul;62(1):13–32. doi: 10.1001/archopht.1959.04220010017003. [DOI] [PubMed] [Google Scholar]
  97. WENT L. N. A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER ASSOCIATED WITH LEBER'S OPTIC ATROPHY. GENETICAL ASPECTS. Acta Genet Stat Med. 1964;14:220–239. doi: 10.1159/000151849. [DOI] [PubMed] [Google Scholar]
  98. Warburg M., Simonsen S. E. Sex-linked recessive retinitis pigmentosa. A preliminary study of the carriers. Acta Ophthalmol (Copenh) 1968;46(3):494–499. doi: 10.1111/j.1755-3768.1968.tb02836.x. [DOI] [PubMed] [Google Scholar]

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