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Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.

Prathiba Ramakrishnan1, Matthew K Kenworthy1, Jonathan A Alexis1

  • 1Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA, Australia.

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Summary

Orthodenticle Homeobox 2 (OTX2)-associated pattern dystrophy shows stable disease over 10 years with unique multimodal imaging findings. This rare condition involves pigmentary maculopathy and optic nerve head changes, with no vision-threatening complications.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Imaging

Background:

  • Orthodenticle Homeobox 2 (OTX2) gene mutations are linked to various developmental disorders, including rare forms of pattern dystrophy.
  • Understanding OTX2-associated pattern dystrophy requires detailed multimodal imaging and long-term clinical follow-up.

Observation:

  • A 14-year-old boy presented with glaucoma suspect and macular pigmentation, exhibiting bilateral enlarged optic nerve heads, pigmentary maculopathy, and subretinal fluid.
  • Multimodal imaging revealed specific features like hypoautofluorescence, shallow serous macular detachment, and temporal avascular retina.
  • Next-generation sequencing identified a de novo heterozygous likely pathogenic OTX2 variant (c.259G>A, [p.(Glu87Lys)]).

Findings:

  • Despite extensive peripheral non-perfusion, angiography showed no leakage or neovascularization.
  • Electrophysiology indicated mild, progressive rod and cone pathway abnormalities.
  • A ten-year follow-up demonstrated a stable disease course with persistent submacular fluid but no pituitary abnormalities.

Implications:

  • This case highlights novel multimodal imaging features and the long-term stability of OTX2-associated pattern dystrophy.
  • Further research into the inter-individual and intrafamilial variability of OTX2-related eye conditions is warranted.
  • The findings contribute to a better understanding of the clinical spectrum and genetic basis of OTX2-associated ocular phenotypes.