X-Linked High Myopia Associated With Cone Dysfunction | Genetics and Genomics | JAMA Ophthalmology | JAMA Network
[Skip to Navigation]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address 35.153.100.128. Please contact the publisher to request reinstatement.
1.
Brückner  AFranceschetti  A Myopie im Kindesalter.  Arch Augenheilkd. 1932;1051- 12Google Scholar
2.
Wold  KC Hereditary myopia.  Arch Ophthalmol. 1949;42225- 230Google ScholarCrossref
3.
Bartsocas  CSKastrantas  AD X-linked form of myopia.  Hum Hered. 1981;31199- 200PubMedGoogle ScholarCrossref
4.
Kaplan  JPelet  AMartin  CDelrieu  OAyme  SBonneau  D Phenotype-genotype correlations in X-linked retinitis pigmentosa.  J Med Genet. 1992;29615- 623PubMedGoogle ScholarCrossref
5.
Lyness  AErnst  WQuinlan  MClover  GArden  GCarter  R A clinical, psychophysical, and electroretinographic survey of patientswith autosomal dominant retinitis pigmentosa.  Br J Ophthalmol. 1985;69326- 339PubMedGoogle ScholarCrossref
6.
Forsius  HEriksson  AW Ein neues Augensyndrom mit X-chromosomaler Transmission.  Klin Monatsbl Augenheilkd. 1964;144447- 457PubMedGoogle Scholar
7.
Francois  JVerriest  GMatton-van Leuven  MTDe Rouck  AManavian  D Atypical achromatopsia of sex-linked recessive inheritance.  Am J Ophthalmol. 1966;611101- 1108PubMedGoogle Scholar
8.
Mäntyjärvi  MKatajakunnas  MVanttinen  S High myopia with cone dysfunction.  Acta Ophthalmol (Copenh). 1991;69155- 161PubMedGoogle ScholarCrossref
9.
Jalkanen  RDemirci  FYBech-Hansen  T  et al.  A new genetic locus for X-linked progressive cone-rod dystrophy.  J Med Genet. 2003;40418- 423PubMedGoogle ScholarCrossref
10.
Schwartz  MHaim  MSkarsholm  D X-linked myopia: Bornholm eye disease: linkage to DNA markers on thedistal part of Xq.  Clin Genet. 1990;38281- 286PubMedGoogle ScholarCrossref
11.
Haim  MFledelius  HCSkarsholm  D X-linked myopia in a Danish family.  Acta Ophthalmol (Copenh). 1988;66450- 456PubMedGoogle ScholarCrossref
12.
Winderickx  JSanocki  ELindsey  DTeller  DYMotulsky  AGDeeb  SS Defective colour vision associated with missense mutation in the humangreen visual pigment gene.  Nat Genet. 1992;1251- 266PubMedGoogle ScholarCrossref
13.
Nathans  JMaumenee  IHZrenner  E  et al.  Genetic heterogeneity among blue-cone monchromats.  Am J Hum Genet. 1993;53987- 1000PubMedGoogle Scholar
14.
Johnson  SHalford  SMollon  JDMoore  ATHunt  DM Molecular basis of cone dystrophy associated with protanopia.  Invest Ophthalmol Vis Sci. 2001;4213442Google Scholar
15.
Marmor  MFZrenner  EInternational Society for Clinical Electrophysiology of Vision, Standard for clinical electroretinography (1999 update).  Doc Ophthalmol. 1998-1999;97143- 156PubMedGoogle ScholarCrossref
16.
Dubovvsky  JSheffield  VDuyk  GWeber  J Sets of short tandem repeats polymorphisms for efficient linkage screeningof the human genome.  Hum Mol Genet. 1995;4449- 452PubMedGoogle ScholarCrossref
17.
Oetting  WSLee  HFlanders  DWeisner  GSellers  TKing  RA Linkage analysis with multiplexed short tandem repeat polymorphismsusing infrared fluorescence and M13 tailed primers.  Genomics. 1995;30450- 458PubMedGoogle ScholarCrossref
18.
Cottingham  RW  JrIdury  RMSchaffer  AA Faster sequential genetic linkage computation.  Am J Hum Genet. 1993;53252- 263PubMedGoogle Scholar
19.
Schaffer  AAGupta  SKShriram  KCottingham  RW  Jr Avoiding recomputation in genetic linkage analysis.  Hum Hered. 1993;44225- 237Google Scholar
20.
Lathrop  GMLalouel  J-MJulier  COtt  J Strategies for multilocus analysis in humans.  Proc Natl Acad Sci U S A. 1984;813443- 3446PubMedGoogle ScholarCrossref
21.
Lathrop  GMLalouel  J-M Easy calculations of LOD scores and genetic risks on small computers.  Am J Hum Genet. 1984;36460- 465PubMedGoogle Scholar
22.
Lathrop  GMLalouel  J-MWhite  RL Construction of human genetic linkage maps: likelihood calculationsfor multilocus analysis.  Genet Epidemiol. 1986;339- 52PubMedGoogle ScholarCrossref
23.
Nathans  JDavenport  CMMaumenee  IH  et al.  Molecular genetics of blue cone monochromacy.  Science. 1989;245831- 838PubMedGoogle ScholarCrossref
24.
Wang  YMacke  JPMerbs  SL  et al.  A locus control region adjacent to the human red and green visual pigmentgenes.  Neuron. 1992;9429- 440PubMedGoogle ScholarCrossref
25.
Yamaguchi  TMotulsky  AGDeeb  SS Visual pigment gene structure and expression in human retinae.  Hum Mol Genet. 1997;6981- 990PubMedGoogle ScholarCrossref
26.
Deeb  SSHayashi  TWinderickx  JYamaguchi  T Molecular analysis of human red/green visual pigment gene locus: relationshipto color vision.  Methods Enzymol. 2000;316651- 670PubMedGoogle Scholar
27.
Orita  MIwahana  HKanazawa  HHayashi  KSekiya  T Detection of polymorphisms of human DNA by gel electrophoresis as single-strandconformation polymophisms.  Proc Natl Acad Sci U S A. 1989;862766- 2770PubMedGoogle ScholarCrossref
28.
Rooney>  DEedCzepulkowski  BHed Human Cytogenetics: A Practical Approach. II Oxford, England IRL Press1992;
29.
Sorsby  ALeary  GARichards  MJ Correlation ametropia and component ametropia.  Vision Res. 1962;2309- 313Google ScholarCrossref
30.
Perlman  IMeyer  EHaim  TZonis  S Retinal function in high refractive error assessed electroretinographically.  Br J Ophthalmol. 1984;6879- 84PubMedGoogle ScholarCrossref
31.
Yamamoto  SNitta  KKamiyama  M Cone electroretinogram to chromatic stimuli in myopic eyes.  Vision Res. 1997;372157- 2159PubMedGoogle ScholarCrossref
32.
Kawabata  HAdachi-Usami  E Multifocal electroretinogram in myopia.  Invest Ophthalmol Vis Sci. 1997;382844- 2851PubMedGoogle Scholar
33.
Westall  CADhaliwal  HSPanton  CM  et al.  Values of electroretinogram responses according to axial length.  Doc Ophthalmol. 2001;102115- 130PubMedGoogle ScholarCrossref
34.
Deeb  SSLindsey  DTHibiya  Y  et al.  Genotype-phenotype relationships in human red/green color-vision defects:molecular and psychophysical studies.  Am J Hum Genet. 1992;51687- 700PubMedGoogle Scholar
35.
Hayashi  TMotulsky  AGDeeb  SS Position of a "green-red" hybrid gene in the visual pigment array determinescolour-vision phenotype.  Nat Genet. 1999;2290- 93PubMedGoogle ScholarCrossref
36.
Gouras  P The history of colour vision. Gouras  Ped. Vision and Visual Dysfunctions,Vol 6: The Perception of Colour Vision. Boca Raton, Fla CRC Press1992;1Google Scholar
37.
Dalton  J Extra-ordinary facts relating to the vision of colours with observations.  Mem Lit Philos Soc Lond. 1798;528Google Scholar
38.
Bell  JHaldane  JBS The linkage between the genes for colour-blindness and haemophiliain man.  Proc R Soc (Lond). 1937;B123119Google ScholarCrossref
39.
Radhakrishna  URaval  RMorris  MA  et al.  A locus for a severe form of X-linked myopia maps to the pseudoautosomalregion of Xq28 [abstract].  Am J Hum Genet. 2000;6741734Google Scholar
40.
Jacobson  DMThompson  HSBartley  JA X-linked progressive cone dystrophy.  Ophthalmology. 1989;96885- 895PubMedGoogle ScholarCrossref
41.
Hong  H-KFerrell  REGorin  MB Clinical diversity and chromosomal localization of X-linked cone dystrophy(COD1).  Am J Hum Genet. 1994;551173- 1181PubMedGoogle Scholar
42.
Meire  FMBergen  AABde Rouck  ALeys  MDelleman  JW X-linked progressive cone dystrophy: localization of the gene locusto Xp21.1-p11.1 by linkage analysis.  Br J Ophthalmol. 1994;78103- 108PubMedGoogle ScholarCrossref
43.
Bergen  AABPinckers  AJLG Localization of a novel X-linked progressive cone dystrophy gene toXq27: evidence for genetic heterogeneity.  Am J Hum Genet. 1997;601468- 1473PubMedGoogle ScholarCrossref
44.
Reichel  EBruce  AMSandberg  MABerson  EL An electrographic and molecular genetic study of X-linked cone degeneration.  Am J Ophthalmol. 1989;108540- 547PubMedGoogle Scholar
45.
Verdoorn  CPinckers  AJLG X-linked cone dystrophy.  Doc Ophthalmol. 1988;70195- 198PubMedGoogle ScholarCrossref
46.
Keunen  JEvan Everdingen  JAWent  LNOosterhuis  JANorren van  D Color matching and foveal densitometry in patients and carriers onan X-linked progressive cone dystrophy.  Arch Ophthalmol. 1990;1081713- 1719PubMedGoogle ScholarCrossref
47.
Heckenlively  JRWeleber  RG X-linked recessive cone dystrophy with tapetal-like sheen: a newlyrecognized entity with Mizuo-Nakamura phenomemon.  Arch Ophthalmol. 1986;1041322- 1328PubMedGoogle ScholarCrossref
48.
Fisher  LWTermine  JDYoung  MF Deduced-protein sequence of bone small proteoglycan I (biglycan) showshomology with proteoglycan II (decorin) and several non-connective tissueproteins in a variety of species.  J Biol Chem. 1989;2644571- 4576PubMedGoogle Scholar
49.
Das  SMetzenberg  APai  GSGitschier  J Mutational analysis of the biglycan gene excludes it as a candidatefor X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, andincontinentia pigmenti.  Am J Hum Genet. 1994;54922- 925PubMedGoogle Scholar
Ophthalmic Molecular Genetics
June 2004

X-Linked High Myopia Associated With Cone Dysfunction

Author Affiliations

From the Departments of Ophthalmology (Drs Young, Ronan, and King andMss Alvear and Holleschau) and Genetics (Drs Young, Dewan, Atwood, Oetting,and King, and Ms Brott), University of Minnesota Medical School, Minneapolis;Division of Ophthalmology, The Children's Hospital of Philadelphia and theUniversity of Pennsylvania, Philadelphia (Dr Young and Mr Scavello and MsPaluru); Departments of Medicine (Medical Genetics) and Genome Sciences, Universityof Washington, Seattle (Drs Deeb, Hayashi, and Motulsky); Department of Ophthalmology,Health Partners Inc, Arden Hills, Minn (Dr Benegas); Section of Clinical Genetics,Department of Pediatrics, University Hospital, Rigshospitalet, Copenhagen,Denmark (Dr Schwartz); and National Eye Clinic for the Visually Impaired,Hellerup, Denmark (Dr Rosenberg). The authors have no relevant financial interestin this article.

 

THADDEUS P.DRYJAMD

Arch Ophthalmol. 2004;122(6):897-908. doi:10.1001/archopht.122.6.897
Abstract

Objective  Bornholm eye disease (BED) consists of X-linked high myopia, high cylinder,optic nerve hypoplasia, reduced electroretinographic flicker with abnormalphotopic responses, and deuteranopia. The disease maps to chromosome Xq28and is the first designated high-grade myopia locus (MYP1). We studied a second family from Minnesota with a similar X-linkedphenotype, also of Danish descent. All affected males had protanopia insteadof deuteranopia.

Methods  X chromosome genotyping, fine-point mapping, and haplotype analysisof the DNA from 22 Minnesota family individuals (8 affected males and 5 carrierfemales) and 6 members of the original family with BED were performed. Haplotypecomparisons and mutation screening of the red-green cone pigment gene arraywere performed on DNA from both kindreds.

Results  Significant maximum logarithm of odds scores of 3.38 and 3.11 at thetas;= 0.0 were obtained with polymorphic microsatellite markers DXS8106 and DXYS154, respectively, in theMinnesota family. Haplotype analysis defined an interval of 34.4 cM at chromosomeXq27.3-Xq28. Affected males had a red-green pigment hybrid gene consistentwith protanopia. We genotyped Xq27-28 polymorphic markers of the family withBED, and narrowed the critical interval to 6.8 cM. The haplotypes of the affectedindividuals were different from those of the Minnesota pedigree. Bornholmeye disease–affected individuals showed the presence of a green-redhybrid gene consistent with deuteranopia.

Conclusions  Because of the close geographic origin of the 2 families, we expectedaffected individuals to have the same haplotype in the vicinity of the samemutation. Mapping studies, however, suggested independent mutations of thesame gene. The red-green and green-red hybrid genes are common X-linked colorvision defects, and thus are unrelated to the high myopia and other eye abnormalitiesin these 2 families.

Clinical Relevance  X-linked high myopia with possible cone dysfunction has been mappedto chromosome Xq28 with intervals of 34.4 and 6.8 centimorgan for 2 familiesof Danish origin.

×