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 ...
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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 ...
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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 ...
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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 ...
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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 ...
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Source: PubMed
