Literature DB >> 3052384

X-linked congenital stationary night blindness. Review and report of a family with hyperopia.

G Khouri1, M B Mets, V C Smith, M Wendell, A S Pass.   

Abstract

X-linked congenital stationary night blindness is almost always associated with myopia. We have reviewed all previously reported pedigrees and have found only two with patients without myopia. A recently proposed classification of night blindness includes a complete type associated with myopia and an incomplete type in which both hyperopia and myopia were found. Complete and incomplete types did not occur within the same pedigree. We report on a family in which three of the five affected members had hyperopia and could be classified as the incomplete type and in which a fourth member with myopia was more consistent with the complete type. The lack of myopia in three members of our pedigree can be explained by two hypotheses: crossing over of the night blindness and myopic genes on the X-chromosome, or an autosomal dominant hyperopic gene that masks the myopic gene. The data from our family support the first of these two hypotheses.

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Year:  1988        PMID: 3052384     DOI: 10.1001/archopht.1988.01060140581027

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  10 in total

1.  Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.

Authors:  L E Allen; I Zito; K Bradshaw; R J Patel; A C Bird; F Fitzke; J R Yates; D Trump; A J Hardcastle; A T Moore
Journal:  Br J Ophthalmol       Date:  2003-11       Impact factor: 4.638

2.  Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.

Authors:  A A Bergen; J B ten Brink; F Riemslag; E J Schuurman; F Meire; N Tijmes; P T de Jong
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

3.  Aland island eye disease: clinical and electrophysiological studies of a Welsh family.

Authors:  N R Hawksworth; S Headland; P Good; N S Thomas; A Clarke
Journal:  Br J Ophthalmol       Date:  1995-05       Impact factor: 4.638

4.  Visual function in hypermetropia. An electroretinographic and psychophysical study.

Authors:  R Kennet; E Meyer; I Perlman
Journal:  Doc Ophthalmol       Date:  1993       Impact factor: 2.379

5.  Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity.

Authors:  N T Bech-Hansen; W G Pearce
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

6.  Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Authors:  W Berger; G van Duijnhoven; A Pinckers; A Smits; H H Ropers; F Cremers
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132

7.  Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.

Authors:  A A Bergen; P Kestelyn; M Leys; F Meire
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

8.  Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

Authors:  K M Boycott; W G Pearce; M A Musarella; R G Weleber; T A Maybaum; D G Birch; Y Miyake; R S Young; N T Bech-Hansen
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

9.  Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

Authors:  I A Glass; P Good; M P Coleman; P Fullwood; M G Giles; S Lindsay; A H Nemeth; K E Davies; H A Willshaw; A Fielder
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318

10.  A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness.

Authors:  Yonghao Gu; Lifeng Wang; Jie Zhou; Qun Guo; Na Liu; Zhenqiang Ding; Li Li; Xinping Liu; Jing An; Guolin Yan; Libo Yao; Zuoming Zhang
Journal:  Mol Vis       Date:  2008-01-09       Impact factor: 2.367

  10 in total

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