クニース異形成症を有する若年者の裂孔原性網膜剥離：症例報告
Xiao Hu1, Peiwen Li2, Weiquan Liang3
1Department of Ophthalmology, The Second People's Hospital of Foshan, Affiliated Foshan Hospital of Guangdong Pharmaceutical University, Foshan 528000, Guangdong Province, China.
Purpose:
To report a rare case of adolescent high myopia with rhegmatogenous retinal detachment (RRD) caused by Kniest Dysplasia.
Observations:
A 17-year-old boy with high myopia presented with 4-day progressive vision loss in his left eye. Ophthalmic examination revealed lattice degeneration in the right eye and RRD involving the macula in the left eye. Systemic evaluation revealed brachydactyly, restrictive ventilatory impairment, and spinal/pelvic anomalies. Whole exome sequencing identified a de novo heterozygous COL2A1 variant, confirming the diagnosis of Kniest Dysplasia, a severe type II collagenopathy. The right eye received prophylactic laser photocoagulation, while the left eye underwent scleral buckling.
Conclusions And Importance:
This study highlights the importance of ocular evaluation in the comprehensive management of systemic connective tissue diseases.
