Literature DB >> 2366125

Dominant macular colobomata.

J Satorre1, J M López, J Martinez, P Piñera.   

Abstract

Hereditary bilateral macular colobomata are not a consequence of an anomalous closure of the fetal fissure. Their extreme rarity, their lack of embryological explanation, and their morphologic similarity to postinflammatory congenital macular scars called the hereditary-malformative etiology of this entity in question. The authors describe a four generation family with seven affected members with isolated autosomal dominant bilateral macular colobomata.

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Mesh:

Year:  1990        PMID: 2366125     DOI: 10.3928/0191-3913-19900501-11

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


  4 in total

Review 1.  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

2.  Optical coherence tomographic finding in a case of macular coloboma.

Authors:  Joo Youn Oh; Young Suk Yu; Jeong-Min Hwang; Kyu Hyung Park
Journal:  Korean J Ophthalmol       Date:  2007-09

3.  Bilateral macular colobomata: Temporal dragging of optic disc.

Authors:  David J Mathew
Journal:  Indian J Ophthalmol       Date:  2015-04       Impact factor: 1.848

4.  Optical coherence tomographic findings at the fixation point in a case of bilateral congenital macular coloboma.

Authors:  Kosuke Abe; Jumi Shirane; Masuo Sakamoto; Fumi Tanabe; Kazuki Kuniyoshi; Chota Matsumoto; Yoshikazu Shimomura
Journal:  Clin Ophthalmol       Date:  2014-05-21
  4 in total

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