J

A ciliopathy caused by dysfunction of primary cilia, characterized by the triad of molar tooth sign, hypotonia, and developmental delay. It is associated with various ophthalmic findings such as ocular motor apraxia and retinal dystrophy.

A characteristic visual field defect pattern resulting from lesions at the junction of the optic nerve and optic chiasm. Sellar tumors such as pituitary adenoma are the most common cause, and accurate visual field testing and imaging are essential for early detection.

This article explains the definition, genetics (MYOC, CYP1B1), diagnostic criteria, pharmacotherapy, surgical treatment (trabeculotomy, MIGS), and genetic counseling of juvenile open-angle glaucoma (JOAG). It includes the latest findings based on the 5th edition of the Glaucoma Practice Guidelines and the ANZRAG study.

Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis, predominantly affecting infants and young children, characterized by yellow skin nodules. The eye is the most common site of extracutaneous involvement in JXG, and iris lesions can cause hyphema and secondary glaucoma.