High-hyperopia database, part I: clinical characterisation including morphometric (biometric) differentiation of posterior microphthalmos from nanophthalmos

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Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos.

P osterior microphthalmos (PM) is a rare developmental defect in which affected eyes display vitreous chamber foreshortening, normal or nearly normal anterior chamber depth, and papillomacular retinal folds. While membrane-type frizzled-related protein gene (MFRP [RefSeq NM_031433]) mutations have been reported to cause severe hyperopia that resembles PM, the resulting phenotype is better chara...

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Optical Coherence Tomography of Bilateral Nanophthalmos with Macular Folds and High Hyperopia

Importance. There is a conflict about the content of the macular folds in nanophthalmic eyes in the literature. Our study clearly demonstrated that papillomacular folds seen in nanophthalmos or posterior microphthalmos were only composed of neurosensory retina without involvement of retinal pigment epithelium and choroid. Observations. This is a report of two consecutive nanophthalmic patients ...

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Increased corneal curvature with posterior nanophthalmos.

Posterior microphthalmos is a rare condition which is characterized by the disproportionately small size of the posterior segment of the eye. The corneal diameter, central anterior chamber depth and the lens thickness are all within the normal range. We present a case of posterior microphthalmos with all normal anterior segment measurements except increased corneal curvature.

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A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.

PURPOSE To describe the clinical and genetic characteristics of a new ophthalmic syndrome, which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen, that segregates as an autosomal recessive trait in a family with four affected siblings. The membrane-type frizzled-related protein (MFRP) and CEH10 homeodomain-containing homolog (CHX10) genes, previous...

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ژورنال

عنوان ژورنال: Eye

سال: 2015

ISSN: 0950-222X,1476-5454

DOI: 10.1038/eye.2015.206