Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.

ABSTRACT:

Background

Nanophthalmos has a significant genetic background and disease-causing mutations have been recently been reported in the myelin regulatory factor (MYRF) gene. We report clinical features in a patient with nanophthalmos and a Thr518Met MYRF mutation.

Case presentation

A three-year-old male was discovered to have nanophthalmos after first presenting to the emergency department for a frontal headache, eye pain, emesis, and lethargy. Imaging studies (CT and MRI) were negative except for increased posterior fossa cerebrospinal fluid. Subsequent examinations revealed nanophthalmos (short axial eye lengths 18.1 mm OD and 18.3 mm OS), microcornea, and a large crystalline lens. Peripheral chorioretinal pigment abnormalities were also observed. He experienced episodes of ma

SUBMITTER: Hagedorn J 

PROVIDER: S-EPMC7528587 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature