Literature DB >> 3257795

X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia.

M J Price1, G F Judisch, H S Thompson.   

Abstract

Seven of eight patients presented initially or were followed for decreased acuity and nystagmus without complaints of night blindness. The diagnosis of congenital stationary night blindness was established with electroretinogram and dark adaptation testing. Careful electrodiagnostic testing is needed to provide accurate genetic counseling. Two patients showed pupillary constriction to darkness which is a sign of retinal disease in young patients.

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Year:  1988        PMID: 3257795     DOI: 10.3928/0191-3913-19880101-09

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


  2 in total

1.  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

2.  Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

Authors:  Uppala Ratnamala; Robert Lyle; Rakesh Rawal; Raminder Singh; Satti Vishnupriya; Pamini Himabindu; Vittal Rao; Somesh Aggarwal; Prasuna Paluru; Lucia Bartoloni; Terri L Young; Ariane Paoloni-Giacobino; Michael A Morris; Swapan K Nath; Stylianos E Antonarakis; Uppala Radhakrishna
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-08-29       Impact factor: 4.799

  2 in total

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