Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology

Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology

Purpose: ADAMTS18-related ocular pathology is rare with few described cases. Features include distinctive facies, refractive error, anterior segment dysgenesis, and retinal dystrophy. Previous patients were found to have homozygous variants in ADAMTS18. Here, we present a patient with compound heter...

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Bibliographic Details
Main Authors: Ari H. August, Rebecca A. Procopio, Christopher J. Rapuano, José S. Pulido
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
ADAMTS18
Microcornea
Myopic chorioretinal atrophy
And telecanthus (MMCAT) syndrome
Vitreoretinal degeneration
Hereditary retinal dystrophy
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993625000155
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