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Article

ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.

Ophthalmic genetics - 1 Aug 2026

Velamala Indu Pavani, Verma Anshuman, Narula Ritesh, Chattannavar Goura, Senthil Sirisha

Abstract excerpt

PURPOSE: To describe the clinical features, genetic variants, and management outcomes in ASPH-related ectopia lentis. DESIGN: Seven unrelated individuals (14 eyes) with ASPH-related ectopia lentis underwent detailed ocular, systemic evaluation and genetic analysis by whole-exome sequencing. RESULTS: The mean age at presentation was 22 years. Parental consanguinity was present in three individuals. All patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41871893
DOI: 10.1080/13816810.2026.2635608

Genes

ASPH
PPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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