Clinical Spectrum and Genetics of Ocular Manifestations in Muscle Eye Brain Disease: A Literature Review

Summary 

This review, published in Seminars in Ophthalmology, looks at eye problems in muscle eye brain disease. It explains that this rare inherited condition can cause a wide range of eye findings, including eye movement problems, short-sightedness, glaucoma, cataract, optic nerve underdevelopment and changes in the retina. The review also notes that POMGNT1 is the gene most often linked to the condition and that the symptoms can vary a lot from person to person.

The paper says that the small number of reported cases makes it hard to predict exactly how the disease will behave in each child. It argues that more case reports and more research are needed to help doctors recognise the condition earlier and manage it better.

Keywords: muscle eye brain disease, POMGNT1, dystroglycanopathies, ocular manifestations, eye movement disorders, high myopia, glaucoma, cataract, retinal changes, review.

Abstract

Purpose: Muscle eye brain (MEB) disease is a rare genetic disorder characterized by congenital muscular dystrophy, structural brain malformations and ocular abnormalities. We review the literature on ophthalmic manifestations and highlight key features that may facilitate the diagnosis of this rare condition.

Methods: A literature search was conducted in the National Centre form Biotechnology Information (NCBI) PubMed, Embase, Web of Science and Scopus databases from inception through April 2026 to identify all relevant studies reporting ocular manifestations in MEB disease.

Results: The current literature on ocular manifestations in MEB disease demonstrates phenotypic variability. MEB disease is caused by homozygous or compound heterozygous mutations in the POMGnT1 gene and the clinical presentation varies in terms of age of onset, disease pattern and rate of progression. Patients with a genetically established diagnosis may present with a wide range of ocular findings, ranging from mild to severe abnormalities. The spectrum mainly includes ocular motility disorders, high myopia, glaucoma, cataract, optic nerve hypoplasia and retinal dysplastic and degenerative changes, while retinal detachment and microphthalmia are less commonly reported.

Conclusion: The variation in phenotype and disease progression, along with the limited number of reported cases highlights the need for further research to guide clinical practice, improve risk assessment and optimize patient management. This review discusses the ocular manifestations of the disorder and emphasizes the importance of reporting additional cases of this rare condition to contribute to future research.

Keywords: Dystroglycanopathies; POMGnT1 gene; muscle eye brain disease; ocular manifestations; phenotype.