The study analyzed a Chinese consanguineous family with Bietti crystalline dystrophy (BCD), where a 46-year-old proband and her younger sister reported progressive vision loss and night blindness for many years. Ophthalmological examinations revealed crystalline deposits in the cornea, retina and lens, including a new finding of crystals on the anterior surface of the lens capsule and in its cortex. In the subject, OCT showed cystoid macular edema, while the sister had the rare combination of a full-thickness macular hole and retinoschisis. Genetic testing using next-generation sequencing identified a homozygous c.1091-2A > G mutation in the CYP4V2 gene in both sisters, with other family members being heterozygous carriers. This mutation co-segregated with the disease. The study expands the BCD phenotype to include multisite crystals and new macular changes, pointing to a complex deposition of crystals in the eyes. Multimodal imaging and genetic tests aid in the diagnosis of BCD.