Optical coherence tomography findings in Cohen syndrome.
J AAPOS
; 24(5): 306-309, 2020 10.
Article
em En
| MEDLINE
| ID: mdl-32919079
ABSTRACT
Cohen syndrome is a rare disease that causes myopia and retinal degeneration in the setting of developmental delay and characteristic craniofacial features. We report optical coherence tomography (OCT) abnormalities in 4 patients with Cohen syndrome, 2 of whom have longitudinal follow-up. All subjects had schisis-like changes, with cystoid spaces in the inner retina as well as diffuse outer retinal atrophy sparing the subfoveal region. Ophthalmologic findings in 1 patient led to the work-up that resulted in a diagnosis of Cohen syndrome, suggesting that characteristic retinal abnormalities visualized by fundus examination and OCT may represent distinguishing features of this syndrome.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Degeneração Retiniana
/
Miopia
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
J AAPOS
Assunto da revista:
OFTALMOLOGIA
/
PEDIATRIA
Ano de publicação:
2020
Tipo de documento:
Article