Sex-Linked Hereditary Nystagmus

Lein, John N.; Stewart, Christine; Moll, Frederic C.

doi:10.1542/peds.18.2.214

Cited by 8 publications

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Clinical Characterization and Linkage Analysis of a Family With Congenital X-Linked Nystagmus and Deuteranomaly

Mellott

Brown²,

Fingert³

et al. 1999

Arch Ophthalmol

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Objectives: To identify a congenital nystagmus locus on the X chromosome and to characterize the phenotype of a 4-generation family affected with congenital nystagmus and color deficiency. Methods: Sixty-five patients underwent an eye examination, including evaluation for the presence of nystagmus and color vision abnormalities. Affected patients and obligate carriers of the congenital nystagmus mutation were genotyped with short tandem repeat polymorphisms located on the X chromosome, and these data were subjected to linkage analysis. Results: Fourteen patients were affected with a horizontal, conjugate, congenital nystagmus. All examined patients had a visual acuity of 20/60 or better. There were no associated ocular or systemic findings except that 18 of the family members had deficient red-green color vision, which was classified as deuteranomaly (the most common form of anomalous trichromacy). Five patients exhibited nystagmus and deuteranomaly. Significant linkage was demonstrated between the nystagmus phenotype and 11 markers from Xq. The maximum lod score was 4.84 (= 0) and was obtained with marker DXS8041. Analysis of recombinants defined the disease interval to lie between markers ATA59C05 and DXS1192 (a 5.4-centimorgan region). The proximity of this locus to the red-green opsin gene cluster (11 centimorgans more telomeric) explains the frequent coexistence of nystagmus and color vision deficiency in this family. Conclusions: We have identified the genetic locus of the X-linked congenital nystagmus gene in this family. The critical interval in this report is less than half the size of the previously described nystagmus locus. These findings will aid in identifying the gene responsible for this condition.

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Clinical Characterization and Linkage Analysis of a Family With Congenital X-Linked Nystagmus and Deuteranomaly

Mellott

Brown²,

Fingert³

et al. 1999

Arch Ophthalmol

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Genetic and Congenital Disorders

Ortonne

Mosher

Fitzpatrick

1983

Vitiligo and Other Hypomelanoses of Hair and Skin

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Fast-phase instabilities in normally sighted relatives of congenital nystagmus patients—autosomal dominant and x-chromosome recessive modes of inheritance

et al. 1988

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Verification of inheritance in congenital nystagmus (CN) is only possible through the identification of more than one affected member in a family since in a single case there are no accurate clinical differentiations between "spontaneous" and inherited CN. We performed electronystagmographic examinations (ENG) to search for abnormal involuntary eye movements as a sign of heredity in seemingly unaffected members of CN families. ENG registrations were performed under three test conditions: (1) with the subject fixating a target, (2) with the room lights off and (3) with closed eyes. Fifty normally sighted individuals (group (a] underwent the test procedure to provide a baseline of normality. Five CN families (three dominant, two sex-linked recessive) were tested as group (b). The eye movement recordings were analysed in terms of nystagmus intensity (amplitude x frequency of the involuntary saccade). In every one of the five families, abnormalities in seemingly non-affected members could be demonstrated: in four families, fast-phase instabilities, in the fifth family a true (CN) (slow-phase instability). All certain gene carriers were diagnosed correctly by the ENG. These findings indicate a method for detecting slightly affected members in dominant pedigrees and female gene carriers in sex-linked mode of transmission.

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Sex-Linked Hereditary Nystagmus

Cited by 8 publications

References 0 publications

Clinical Characterization and Linkage Analysis of a Family With Congenital X-Linked Nystagmus and Deuteranomaly

Clinical Characterization and Linkage Analysis of a Family With Congenital X-Linked Nystagmus and Deuteranomaly

Genetic and Congenital Disorders

Fast-phase instabilities in normally sighted relatives of congenital nystagmus patients—autosomal dominant and x-chromosome recessive modes of inheritance

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