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LCA14

LRAT

Lecithin retinol acyltransferase; essential for the visual cycle (same pathway as RPE65)

Active Clinical Trials

LRAT-LCA shares the visual-cycle defect of RPE65, so it was targeted with an oral synthetic retinoid (QLT091001 / zuretinol acetate) rather than gene therapy. A Phase 1b trial in RPE65- or LRAT-deficient LCA/RP reported transient improvements in visual field and acuity (Koenekoop et al., Lancet 2014). A later Phase 2/3 trial was withdrawn and no therapy is approved. AAV LRAT gene therapy has not entered clinical trials.

Sourced & cited — not yet expert-reviewed

Every statement here is backed by a cited primary source, but a specialist has not formally reviewed this page yet.

Chromosomal Locus

4q32.1

Inheritance

Autosomal Recessive

Frequency

<1% of LCA cases

OMIM #613341

Key Clinical Features

  • 1Visual cycle defect (similar pathway to RPE65)
  • 2Severe early visual loss
  • 3Potential gene therapy target

Clinical Trials

Oral QLT091001 (zuretinol) in RPE65/LRAT-deficient LCA/RP

QLT Inc. · Phase 1b

Completed

Zuretinol Acetate for RPE65/LRAT-deficient IRD

Retinagenix Holdings · Phase 2/3

Withdrawn