Biometry in X linked megalocornea: pathognomonic findings.
نویسندگان
چکیده
منابع مشابه
Biometry in X linked megalocornea: pathognomonic findings.
Biometric study in a series of 11 affected males provides characteristic findings. The patients present with a large cornea with short radius, very deep anterior chamber depth (AC depth) exceeding the normal mean value of plus 2 SD, and a short vitreous length. Calculation of the postlimbal depth, a method applied in this study to obtain information about positioning of the iris and the lens, r...
متن کاملMolecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
Chordin-Like 1 (CHRDL1) mutations cause non-syndromic X-linked megalocornea (XMC) characterized by enlarged anterior eye segments. Mosaic corneal degeneration, presenile cataract and secondary glaucoma are associated with XMC. Beside that CHRDL1 encodes Ventroptin, a secreted bone morphogenetic protein (BMP) antagonist, the molecular mechanism of XMC is not well understood yet. In a family with...
متن کاملAssociation of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (PCG). Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR) syndrome, a rare condition of unknown etiology. In ...
متن کاملX-linked hypophosphatemia: dental and histologic findings.
The recurrent spontaneous formation of abscesses affecting multiple noncarious primary as well as permanent teeth is the principle clinical dental feature in cases of hypophosphatemia, a condition inherited through the X chromosome. Patients often have high pulp horns, large pulp chambers and dentinal clefts. We report a case of hypophosphatemic vitamin D-resistant rickets in a patient who repo...
متن کاملX-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth and later onset of mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile cataracts. We identified copy-number variation, frameshift, missense, splice-site and nonsense mutations in the Chordin-like 1 gene (CHRDL1) on Xq23 a...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1994
ISSN: 0007-1161
DOI: 10.1136/bjo.78.10.781