Retinitis pigmentosa with iris coloboma due to miR-204 gene variant in a Chinese family.

PURPOSE: To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma. METHODS: The proband, a 34-year-old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full-field electroretinography (ffERG). Genetic analyses were conducted through whole-exome sequencing (WES) to screen for variations. RESULTS: Three members of this Chinese family were shown to be bilateral iris coloboma. The male proband and his mother exhibited typical RP feature. The proband's late grandfather had been documented manifestation of iris coloboma. The mode of inheritance was confirmed to be autosomal dominance. Through linkage analysis and WES, a heterozygous variation in the miR-204 gene (n.37C>T), a noncoding RNA gene, was identified in these three members. CONCLUSIONS: In this third independent and the first Asian family, the existence of a miR-204 variant associated with RP accompanied by iris coloboma was confirmed. Our findings reinforce the significance of miR-204 as an important factor influencing visual function in the retina. When phenotypes like RP accompanied by iris coloboma in an autosomal-dominant pattern, including in Chinese patients, miR-204 aberrations should be considered.

Selection of intraocular lens calculation formula for cataract surgery in glaucoma patients / 国际眼科杂志(Guoji Yanke Zazhi)

Glaucoma and cataracts are the leading causes of blindness, and surgery is an important treatment option. Patients with glaucoma have clinical characteristics such as high intraocular pressure, shallow anterior chamber and short axial length, and the ocular structure is often altered after anti-glaucoma surgery like trabeculectomy. These changes also lead to differences in the accuracy of intraocular lens(IOL)refractive calculation between cataract surgery after anti-glaucoma surgery or combined glaucoma and cataract surgery and alone cataract surgery. Meanwhile glaucoma patients' individual clinical characteristics and structural changes caused by anti-glaucoma surgery have shown differences in the impact on the predictive accuracy of IOL diopters and the type of refractive drift. This article reviews the latest research advances in the causes of refractive error(RE), the characteristics of refractive drift, and the selection of the most appropriate IOL formula for glaucoma patients undergoing cataract surgery or cataract surgery after anti-glaucoma surgery or combined glaucoma and cataract surgery.