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Cataract-microcornea Syndrome - DOAJ

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Last Updated: 01 January 2023

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Cataract Surgery with Foldable Single Piece IOLs in Congenital Cataract-Microcornea Syndrome

In a patient with congenital cataract-microcornea syndrome, a patient with cataract surgery with foldable single piece IOLs presents the clinical findings and intraocular lens stability after cataract surgery with foldable single piece IOLs. Presentation of a 28-year-old woman with bilateral microcornea and posterior polar cataracts. Both eyes had a 9. 0 mm horizontal cornea diameter. Both eyes' Anterior chamber angle examination with Scheie classification obtained grade 3 on the superior, inferior, and temporal site as well as grade 2 on the nasal site. The anterior chamber depths were 2. 35 mm on ultrasound biomicroscopy. IOLs power calculations using SRK/T formulas yielded +25. 00 diopter OD and +22. 50 diopter OS. ACAA gave a score 2 and no pigment dispersion. The IOLs were in the correct position and not rubbing the iris, according to UBM. Conclusion: In both eyes with microcornea in CCMC, the foldable single piece IOLs without haptic trimming in the sulcus were safely implanted in both eyes.

Source link: https://doi.org/10.14456/smj.2017.72


Cataract Surgery with Foldable Single Piece IOLs in Congenital Cataract-Microcornea Syndrome

In a patient with congenital cataract-microcornea syndrome, we want to report the visual results and intraocular lens stability after cataract surgery with foldable single piece IOLs. Case study: A 28-year-old woman was shown with bilateral microcornea and posterior polar cataracts. In both eyes, the Anterior chamber angle assessment with Scheie classification reported a grade 3 on the superior, inferior, and temporal site, as well as a grade 2 on the nasal site. With SRK/T formulas, the IOLs power calculation was +25. 00 diopter OD and +22. 50 diopter OS. Then anterior vitrectomy was performed. In each eye, a foldable single piece IOLs without haptic trimming was implanted in the sulcus. ACAA's grade 2 and no pigment dispersion were reported. The IOLs were in the correct position and were not rubbing the iris, according to UBM, and were not rubbing the iris. Conclusion: In both eyes with microcornea in CCMC, the foldable single piece IOLs with haptic trimming in the sulcus were safely implanted in both eyes.

Source link: https://doaj.org/article/c9ecd18a73d143d8ac2aa7883e5b2957


Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome

Congenital cataract and microcornea syndrome is characteristic of congenital cataract and microcornea syndrome without the presence of any other systemic abnormality or dysmorphism. Although many causative genes have been identified in patients with CCMC, the etiology of CCMC has yet to be understood. Purpose With CCMC, the intention is to determine the genetic origins of autosomal dominant families. Methods All patients and their immediate family members underwent a comprehensive ophthalmologic medical examination in the hospital by experienced ophthalmologists, which was followed by clinical diagnosis. In this research, four CCMC patients from a Chinese family and five unaffected family members were recruited, as well as five unaffected family members. Variant p. Ala99Ser was found in a preservation high mobility group -box domain in SOX2 protein, with a potential pathogenic effect of p. Ala99Ser on protein level. Conclusions A novel missense mutation in the SOX2 gene was discovered in this Chinese family with congenital cataract and microcornea.

Source link: https://doi.org/10.1186/s12886-022-02291-4

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions