Anterior megalophthalmos in sisters with Witteveen-Kolk syndrome.

Autor:	Jacobson, Adam, Bohnsack, Brenda L.
Předmět:	CILIARY body OSTEOGENESIS imperfecta INTRAOCULAR pressure SISTERS SYNDROMES CRYSTALLINE lens ANTERIOR eye segment
Zdroj:	Journal of AAPOS; Jun2022, Vol. 26 Issue 3, p148-150, 3p
Abstrakt:	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). [ABSTRACT FROM AUTHOR]
Databáze:	Supplemental Index
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