Literature DB >> 8334934

Ectopia lentis, chorioretinal dystrophy and myopia. A new autosomal recessive syndrome.

K G Noble1, S Bass, J Sherman.   

Abstract

Four of five siblings born of a consanguineous marriage demonstrated abnormalities of the lens (ectopia lentis and dense cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment) associated with myopia. This association in an autosomal recessive pedigree has not been previously noted.

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Year:  1993        PMID: 8334934     DOI: 10.1007/bf01206207

Source DB:  PubMed          Journal:  Doc Ophthalmol        ISSN: 0012-4486            Impact factor:   2.379


  6 in total

1.  [Not Available].

Authors: 
Journal:  Bull Soc Ophtalmol Fr       Date:  1948-03

2.  Achromatopsia in Pingelap Islanders. Study of a genetic isolate.

Authors:  R E Carr; N E Morton; I M Siegel
Journal:  Am J Ophthalmol       Date:  1971-10       Impact factor: 5.258

3.  Retinal function in high refractive error assessed electroretinographically.

Authors:  I Perlman; E Meyer; T Haim; S Zonis
Journal:  Br J Ophthalmol       Date:  1984-02       Impact factor: 4.638

4.  Retinitis pigmentosa associated with bilateral ectopia lentis.

Authors:  B L Halpern; A Sugar
Journal:  Ann Ophthalmol       Date:  1981-07

5.  Clinical manifestations of ectopia lentis et pupillae in 16 patients.

Authors:  M F Goldberg
Journal:  Ophthalmology       Date:  1988-08       Impact factor: 12.079

6.  Ectopia lentis.

Authors:  L B Nelson; I H Maumenee
Journal:  Surv Ophthalmol       Date:  1982 Nov-Dec       Impact factor: 6.048

  6 in total
  2 in total

1.  A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

Authors:  Dina Ahram; T Shawn Sato; Abdulghani Kohilan; Marwan Tayeh; Shan Chen; Suzanne Leal; Mahmoud Al-Salem; Hatem El-Shanti
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025

2.  Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy.

Authors:  Javeria Nooraine; Kemmanu Vasudha; Sribhargava Natesh; Rajesh B Iyer; Seetharam Raghavendra
Journal:  Ann Indian Acad Neurol       Date:  2013-10       Impact factor: 1.383

  2 in total

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