Case Report: Clinical and genetic analysis of a Bietti crystalline dystrophy family with multisite crystalline deposits and a phenotype of macular hole combined with retinoschisis

The homozygous CYP4V2 c.1091-2A > G mutation was identified as the disease-causing variant in this family. This study broadens the phenotypic spectrum of BCD by highlighting multisite crystalline deposits and rare macular structural changes. These findings suggest that crystal deposition in BCD affects multiple ocular tissues and involves complex pathological mechanisms. Combined multimodal imaging and genetic testing can enhance the recognition and diagnosis of BCD.