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

ABSTRACT:

Purpose

To report novel multimodal imaging features and long-term follow-up of Orthodenticle Homeobox 2 (OTX2)-associated pattern Gdystrophy.

Methods

A 14-year-old boy referred with glaucoma suspect and macular pigmentation underwent fundus autofluorescence imaging, optical coherence tomography, fluorescein and indocyanine green angiography, visual field test, microperimetry and electrophysiology over a ten-year period. Next-generation sequencing panel identified a de novo heterozygous likely pathogenic OTX2 variant, c.259G>A, [p.(Glu87Lys)].

Results

Visual acuity was 20/40 OD and 20/30 OS. Examination showed bilateral enlarged optic nerve heads and increased disc cupping, multiple cilioretinal arteries, a pigmentary maculopathy with stellate-shaped region of hypoauto

SUBMITTER: Ramakrishnan P 

PROVIDER: S-EPMC11442598 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature