<i>LTBP2</i> variants in childhood glaucoma: Phenotypic expansion and clinical experience.
The study expands the classic <i>LTBP2</i>-related phenotype spectrum in an Indian pediatric glaucoma cohort, highlighting additional features such as persistent pupillary membrane, ectropion uveae, and associated retinal pathology. These ocular manifestations were predominantly linked to nonsense <i>LTBP2</i> variants. From a management standpoint, early lensectomy can help prevent secondary glaucoma, while timely identification and treatment of peripheral retinal pathology can reduce the risk of sight-threatening complications.
Authors
- Anshuman Verma (ORCID: https://orcid.org/0000-0003-0948-0154)
- Sirisha Senthil (ORCID: https://orcid.org/0000-0003-1748-8850)
- Venkatesh Pochaboina
- Arif O. Khan (ORCID: https://orcid.org/0000-0002-9180-4746)
Institutions
- L V Prasad Eye Institute (IN)
- Cleveland Clinic Lerner College of Medicine (US)
- Case Western Reserve University (US)
Publication Details
- Journal
- PubMed
- Published
- 2025-01-01
- Primary Topic
- Glaucoma and retinal disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00