Anterior megalophthalmos in sisters with Witteveen-Kolk syndrome

Adam Jacobson; Brenda L Bohnsack

doi:10.1016/j.jaapos.2022.01.003

Anterior megalophthalmos in sisters with Witteveen-Kolk syndrome

J AAPOS. 2022 Jun;26(3):148-150. doi: 10.1016/j.jaapos.2022.01.003. Epub 2022 Feb 8.

Authors

Adam Jacobson¹, Brenda L Bohnsack²

Affiliations

¹ Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
² Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago Illinois. Electronic address: [email protected].

PMID: 35144002
DOI: 10.1016/j.jaapos.2022.01.003

Abstract

Anterior megalophthalmos is a form of anterior segment dysgenesis characterized by megalocornea (>12.5 mm) coupled with an enlarged lens-iris diaphragm and ciliary body ring. Importantly, intraocular pressure (IOP) is normal, and in contrast to buphthalmos, the ratio of anterior segment to vitreous cavity measurements is increased. Anterior megalophthalmos may be an isolated ocular finding, or it may be associated with syndromes such as albinism, Down syndrome, Frank-Ter-Haar, Marfan, Neuhauser, mucolipidosis type 2, and osteogenesis imperfecta. We report anterior megalophthalmos in 2 sisters with genetically confirmed (SIN3A, c.1657C>T, p.R553∗) Witteveen-Kolk syndrome (OMIM #613406).

Publication types

Case Reports

MeSH terms

Eye Abnormalities* / complications
Eye Abnormalities* / diagnosis
Eye Abnormalities* / genetics
Eye Diseases, Hereditary* / diagnosis
Eye Diseases, Hereditary* / genetics
Female
Genetic Diseases, X-Linked
Humans
Hydrophthalmos*
Iris

Supplementary concepts

Megalocornea