Literature DB >> 1770538

Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.

A Colley1, I C Lloyd, A Ridgway, D Donnai.   

Abstract

Two sib pairs and a fifth child are described with autosomal recessive ectopia lentis et pupillae. Patients with this disorder need regular ophthalmic review, but do not have the skeletal and metabolic complications associated with other syndromes with ectopia lentis.

Entities:  

Mesh：

Year:  1991        PMID： 1770538      PMCID： PMC1017117          DOI： 10.1136/jmg.28.11.791

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  Ocular manifestations in the Marfan syndrome and homocystinuria.

Authors:  H E Cross; A D Jensen
Journal:  Am J Ophthalmol       Date:  1973-03       Impact factor: 5.258

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

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

3.  Isolated congenital ectopia lentis with autosomal dominant inheritance.

Authors:  B M Jaureguy; J G Hall
Journal:  Clin Genet       Date:  1979-01       Impact factor: 4.438

4.  Ectopia lentis et pupillae.

Authors:  H E Cross
Journal:  Am J Ophthalmol       Date:  1979-09       Impact factor: 5.258

5.  Dominantly inherited blepharoptosis, high myopia, and ectopia lentis.

Authors:  W N Gillum; R L Anderson
Journal:  Arch Ophthalmol       Date:  1982-02

6.  Ectopia lentis.

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

1.  Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.

Authors:  Semra Gürsoy; Filiz Hazan; Tülay Öztürk; Halil Ateş
Journal:  Mol Syndromol       Date:  2019-12-20

2.  Molybdenum cofactor deficiency in two siblings: diagnostic difficulties.

Authors:  L K Hansen; K Wulff; C Dorche; E Christensen
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

3.  Spontaneous anterior dislocation of lens in a case of ectopia lentis et pupillae: a rare entity treated by a novel technique of microscope integrated optical coherence tomography (MIOCT) guided intralenticular lens aspiration.

Authors:  Pranita Sahay; Kalathil Reshmi Shaji; Prafulla Kumar Maharana; Jeewan S Titiyal
Journal:  BMJ Case Rep       Date:  2019-01-18

4.  A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.

Authors:  Marianna Alagia; Gerarda Cappuccio; Michele Pinelli; Annalaura Torella; Raffaella Brunetti-Pierri; Francesca Simonelli; Giuseppe Limongelli; Guido Oppido; Vincenzo Nigro; Nicola Brunetti-Pierri
Journal:  Am J Med Genet A       Date:  2017-12-12       Impact factor: 2.802
  4 in total

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