Biometry in X linked megalocornea: pathognomonic findings.
نویسندگان
چکیده
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, reveals a posterior positioning of the iris and lens. The posterior positioning of the iris and lens was proved to occur at the expense of the vitreous. The importance of biometric data for diagnosis and for differential diagnosis in primary infantile glaucoma and other diseases with megalocornea is discussed.
منابع مشابه
Association 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 ...
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Anterior megalophthalmos is a developmental anomaly of the anterior ocular segment. This is an X-linked recessive disease and manifests as bilateral enlarged corneas, open iridocorneal angle, hypoplastic iris and dislocation and opacification of an apparently small lens. We have also observed obvious vitreoretinal degeneration in our patients. What may threaten visual acuity later is an op...
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...
متن کاملX linked ocular albinism in Japanese patients.
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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...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 78 10 شماره
صفحات -
تاریخ انتشار 1994