Literature DB >> 2377351

Autosomal recessive ectopia lentis in two Arab family pedigrees.

M al-Salem1.   

Abstract

Nineteen patients with bilateral ectopia lentis and no other ocular abnormalities in two Arab families are described. The two family pedigrees demonstrate an autosomal recessive inheritance in contrast to the majority of reported family pedigrees with this condition which show dominant inheritance. The early onset of the condition, its natural course and its consequences on visual function are described.

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Year:  1990        PMID: 2377351     DOI: 10.3109/13816819009012957

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  4 in total

Review 1.  Molecular pathogenesis and management strategies of ectopia lentis.

Authors:  A Chandra; D Charteris
Journal:  Eye (Lond)       Date:  2014-01-10       Impact factor: 3.775

2.  Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

Authors:  Haiba Kaul; S Amer Riazuddin; Zaheeruddin A Qazi; Idrees A Nasir; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
Journal:  Arch Ophthalmol       Date:  2010-08

Review 3.  Ectopia lentis et pupillae syndrome in three generations.

Authors:  J R Cruysberg; A Pinckers
Journal:  Br J Ophthalmol       Date:  1995-02       Impact factor: 4.638

4.  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

  4 in total

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