Search

Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant dysplastic dyskeratotic epithelial syndrome caused by pathogenic variants in the SREBF1 gene. This syndrome is associated with a variety of ocular conditions, including cataracts, nystagmus, keratitis, meibomian gland dysfunction (MGD), and decreased visual acuity. We report the case of a boy followed from 1 to 7 years of age who had a confirmed HMD-associated variant in the SREBF1 gene. The patient has severe MGD, with resulting keratitis and photosensitivity, and bilateral glaucoma, which has not previously been reported in association with HMD. The gene affected in HMD negatively affects gap junctions and lipid biosynthesis, which are important in the stability of the trabecular meshwork., (Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Dragged-fovea diplopia syndrome (DFDS) is a type of binocular double vision caused by a displacement of the fovea in one or both eyes due to retinal disorders including epiretinal membranes or other maculopathies. DFDS induces diplopia through a mismatch between peripheral motor fusion and central (foveal) fusion. It can be diagnosed by utilizing the Lights on - Lights off test. While there is no cure, there are treatments for DFDS including monocular occlusion or blurring (tape, lenses, IOL), Bangerter filter, and Fresnel prisms. While this syndrome has been identified in the literature by multiple names including central-peripheral Rivalry (CPR)-type diplopia, macular diplopia, and foveal displacement syndrome, this article works to summarize the current known characteristics, diagnostic tests, and treatment for this syndrome.