<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.

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PubMed
Published
2025-01-01
Primary Topic
Glaucoma and retinal disorders
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article
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article

LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.

Anshuman Verma, Sirisha Senthil, Venkatesh Pochaboina, Arif O. Khan
PubMed
Glaucoma and retinal disorders
article

LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.

Anshuman Verma, Sirisha Senthil, Venkatesh Pochaboina, Arif O. Khan
article en

Abstract

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.

PubMedVol. 31
L V Prasad Eye Institute (IN), Cleveland Clinic Lerner College of Medicine (US), Case Western Reserve University (US)
Openalex Percentile: Top 82%
Glaucoma and retinal disorders
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<i>LTBP2</i> variants in childhood glaucoma: Phenotypic expansion and clinical experience. — Anshuman Verma, Sirisha Senthil, et al. · PubMed (2025) | TGRS Research Map | TGRS