Literature DB >> 1621783

Hereditary microphthalmia with colobomatous cyst.

Y Porges1, R Gershoni-Baruch, R Leibu, D Goldscher, S Zonis, I Shapira, B Miller.   

Abstract

We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal recessive trait. Ultrasonography was effective for prenatal diagnosis in two pregnancies at risk.

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Year:  1992        PMID: 1621783     DOI: 10.1016/s0002-9394(14)77409-4

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  11 in total

1.  Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.

Authors:  N K Ragge; A Salt; J R O Collin; A Michalski; P A Farndon
Journal:  Br J Ophthalmol       Date:  2005-08       Impact factor: 4.638

Review 2.  Neural crest derivatives in ocular development: discerning the eye of the storm.

Authors:  Antionette L Williams; Brenda L Bohnsack
Journal:  Birth Defects Res C Embryo Today       Date:  2015-06-04

Review 3.  Ocular coloboma: a reassessment in the age of molecular neuroscience.

Authors:  C Y Gregory-Evans; M J Williams; S Halford; K Gregory-Evans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

Review 4.  Classification of microphthalmos and coloboma.

Authors:  M Warburg
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

5.  A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.

Authors:  Adi Mory; Francesc X Ruiz; Efrat Dagan; Evgenia A Yakovtseva; Alina Kurolap; Xavier Parés; Jaume Farrés; Ruth Gershoni-Baruch
Journal:  Eur J Hum Genet       Date:  2013-07-24       Impact factor: 4.246

Review 6.  Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio.

Authors:  Jonathan Bibliowicz; Rachel K Tittle; Jeffrey M Gross
Journal:  Prog Mol Biol Transl Sci       Date:  2011       Impact factor: 3.622

Review 7.  An update on the genetics of ocular coloboma.

Authors:  Aisha S ALSomiry; Cheryl Y Gregory-Evans; Kevin Gregory-Evans
Journal:  Hum Genet       Date:  2019-05-09       Impact factor: 4.132

8.  Sox4 regulates choroid fissure closure by limiting Hedgehog signaling during ocular morphogenesis.

Authors:  Wen Wen; Lakshmi Pillai-Kastoori; Stephen G Wilson; Ann C Morris
Journal:  Dev Biol       Date:  2014-12-31       Impact factor: 3.582

9.  The familial contribution to non-syndromic ocular coloboma in south India.

Authors:  S J Hornby; L Dandona; R B Jones; H Stewart; C E Gilbert
Journal:  Br J Ophthalmol       Date:  2003-03       Impact factor: 4.638

10.  Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure.

Authors:  Jacob D Brown; Sunit Dutta; Kapil Bharti; Robert F Bonner; Peter J Munson; Igor B Dawid; Amana L Akhtar; Ighovie F Onojafe; Ramakrishna P Alur; Jeffrey M Gross; J Fielding Hejtmancik; Xiaodong Jiao; Wai-Yee Chan; Brian P Brooks
Journal:  Proc Natl Acad Sci U S A       Date:  2009-01-26       Impact factor: 11.205

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