Last Updated on Aug 02, 2017

Latest Publications and Research on Coloboma

Taiwan J Ophthalmol    

Anterior transposition of inferior oblique for inferior rectus muscle aplasia.

Singh A, Agrawal A, Mittal SK, Kumar B, Rana KM, Verma R

Congenital absence of extraocular muscle is rare. The most common extraocular muscle found to be congenitally absent is superior oblique followed by i... Read More

Source: PubMed

Ophthalmic Genet.    

Macular maldevelopment in ATF6-mediated retinal dysfunction.

Ritter M, Arno G, Ba-Abbad R, Holder GE, Webster AR

Background: Achromatopsia has been previously associated with mutations in the ATF6 gene. Rod-monochromatism, foveal hypoplasia, and disruption of the... Read More

Source: PubMed

NMC Case Rep J    

Combined Transcranial-supraorbital and Transconjunctival Approach for Optic Nerve Coloboma with Ophthalmic Dysplasia Associated with Rheumatoid Arthritis.

Hanada T, Hanaya R, Ummah FC, Kamisasanuki T, Kirishima M, Tanimoto A, Arita K, Yoshimoto K

We report a 59-year-old woman with optic nerve coloboma and ophthalmic dysplasia associated with rheumatoid arthritis. She experienced progressive vis... Read More

Source: PubMed

Eur J Med Genet  2020 Jan 07  

Fraser syndrome without cryptophthalmos: Two cases.

Boussion S, Lyonnet S, Van Der Zwaag B, Vogel MJ, Smol T, Mezel A, Manouvrier-Hanu S, Vincent-Delorme C, Vanlerberghe C

Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremit... Read More

Source: PubMed

Am. J. Med. Genet. A  2020 Jan 08  

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.

Pölsler L, Schatz UA, Simma B, Zschocke J, Rudnik-Schöneborn S

The joint occurrence of short stature, congenital dislocation of the hip, carpal coalition, dislocation of the radial head, cavus deformity, scoliosis... Read More

Source: PubMed

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