Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.
Doc Ophthalmol
; 149(2): 115-123, 2024 Oct.
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Angiografía con Fluoresceína
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Agudeza Visual
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Tomografía de Coherencia Óptica
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Factores de Transcripción Otx
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Imagen Multimodal
Límite:
Adolescent
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Humans
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Male
Idioma:
En
Revista:
Doc Ophthalmol
Año:
2024
Tipo del documento:
Article
País de afiliación:
Australia