Literature DB >> 6972443

X-linked recessive congenital stationary night blindness, myopia, and tilted discs.

H M Hittner, R P Borda, J Justice.   

Abstract

A family with X-linked recessive congenital stationary night blindness, myopia, and tilted discs has been identified. All affected members have decreased vision, nystagmus, strabismus with decreased binocular function, visual field defects, abnormal fundus appearance with typical fluorescein angiographic findings of tilted disc syndrome, abnormal electroretinograms, and abnormal visual evoked responses to patterned stimuli. Similar clinical evaluation of an obligate carrier revealed no ocular abnormalities.

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Year:  1981        PMID: 6972443     DOI: 10.3928/0191-3913-19810101-05

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN: 0191-3913            Impact factor:   1.402


  5 in total

1.  Congenital nystagmus: a clinical perspective in infancy.

Authors:  S S Gelbart; C S Hoyt
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1988       Impact factor: 3.117

2.  Choroidal neovascularization in tilted disc syndrome.

Authors:  M Prost; J J De Laey
Journal:  Int Ophthalmol       Date:  1988       Impact factor: 2.031

3.  Electrofunctional features of the tilted disc syndrome.

Authors:  G Giuffrè; M Anastasi
Journal:  Doc Ophthalmol       Date:  1986-03-31       Impact factor: 2.379

4.  Clinical features of affected males with X linked ocular albinism.

Authors:  S J Charles; J S Green; J W Grant; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1993-04       Impact factor: 4.638

5.  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

  5 in total

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