Compound heterozygous variants in <i>CYP4V2</i> and <i>LRTOMT</i> coinciding in a single family: a rare case of combined Bietti crystalline dystrophy and nonsyndromic hearing loss
This case highlights the genetic complexity of multisensory disorders, where the co-inheritance of variants in distinct genes may lead to a more severe phenotype. It underscores the need for comprehensive genetic testing and counseling in affected families.
Authors
- Jiayi Liu (ORCID: https://orcid.org/0000-0003-1819-2998)
- Xue Zhong (ORCID: https://orcid.org/0000-0003-0813-7506)
- Shiguo Liu
- Huijin Duan
- Linqiong Yu
- Jing Lin
Institutions
- Qingdao University (CN)
- Affiliated Hospital of Qingdao University (CN)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2026-03-02
- DOI
- https://doi.org/10.1080/13816810.2026.2626852
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00