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Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.
Ramakrishnan, Prathiba; Kenworthy, Matthew K; Alexis, Jonathan A; Thompson, Jennifer A; Lamey, Tina M; Chen, Fred K.
Afiliación
  • Ramakrishnan P; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA, Australia.
  • Kenworthy MK; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA, Australia.
  • Alexis JA; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA, Australia.
  • Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.
  • Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.
  • Chen FK; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA, Australia. fred.chen@lei.org.au.
Doc Ophthalmol ; 2024 Jul 18.
Article en En | MEDLINE | ID: mdl-39023660
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 hypoautofluorescence, shallow serous macular detachment, subretinal deposits and temporal avascular retina. Angiography showed no source of leakage and absence of retinal neovascularisation despite extensive peripheral non perfusion. Electrophysiological assessments demonstrated mild progressive rod and cone pathway abnormalities, reduced light-adapted ba ratio, and reduced Arden ratio on electro-oculogram. Ten-year follow-up confirmed a stable disease course despite persistent submacular fluid. There was no associated pituitary structural abnormality or dysfunction.

CONCLUSIONS:

This case study contributes to further understanding of OTX2-associated pattern dystrophy, highlighting its stability over 10 years. Further investigation into inter-individual and intrafamilial variability is warranted.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Doc Ophthalmol Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Doc Ophthalmol Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Países Bajos