Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia.
Eur J Ophthalmol
; 32(4): NP34-NP37, 2022 Jul.
Article
em En
| MEDLINE
| ID: mdl-33583233
ABSTRACT
PURPOSE:
To evaluate the radial peripapillary vascular plexus of a cavitary congenital optic disc anomaly in a young patient with recessive autosomal metaphyseal acroscyphodysplasia using optical coherence tomography angiography (OCTA).METHODS:
Observational case report.RESULTS:
A 17-year-old man, with diagnosis of metaphyseal acroscyphodysplasia was referred to Eye Clinic for fundus examination and multimodal imaging for retinal epithelium hypertrophy in the right eye. Clinical examination showed cup-shaped metaphyses, short stature, hyperthelorism, and telecanthus. An optic disc coloboma was detected in the right eye on fundus examination. Wide field en-face Optical Coherence Tomography (OCT) showed a hyporeflective area corresponding to the right optic disc coloboma. At OCTA examination, the whole papillary region revealed a rarefaction of the vascular network, while the ganglion cell complex's and retinal fiber layers' parameters were normal in both eyes.CONCLUSION:
The presence of coloboma disc congenital defect linked to embryological abnormalities during the development process could pave the way for a wider understanding of the pathogenesis of metaphyseal acroscyphodysplasia by increasingly framing it as a systemic disease.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Disco Óptico
/
Coloboma
/
Anormalidades do Olho
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Ophthalmol
Assunto da revista:
OFTALMOLOGIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Itália