id author title date pages extension mime words sentences flesch summary cache txt work_zp7e4tblb5ckvjkx7gp2pyywp4 O. H. Sundin Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein 2005 6 .pdf application/pdf 4917 508 67 aLaboratory of Developmental Genetics, eJohns Hopkins Clinic for Hereditary Eye Diseases, jKrieger Center for Pediatric Ophthalmology, mOcular Imaging and Low Vision Clinics, Wilmer Eye Institute, bDepartment of Molecular Biology and Genetics, School of Medicine, and lDepartment of Biostatistics, Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error good refraction-corrected vision, produce clinically normal electroretinograms, and show only modest anomalies in the dark adaptation of photoreceptors. mutation causing nanophthalmos, a rare human genetic disorder Secondar y complications are common with extreme hyperopia, in which supporting tissues of the developing eye reach Abbreviations: RPE, retinal pigment epithelium; ERG, electroretinography; MFRP, membrane-type Frizzled-related protein; CRD, cysteine-rich domain; Mb, megabase; RE, right vessels in patients 7 (Fig. 3 B and C) and 8 and the left eye of eye of patient 6 had a normally shaped foveal pit, as indicated by secondary responses of other retinal cells (B-waves), were clinically normal for patients 5 and 7. ./cache/work_zp7e4tblb5ckvjkx7gp2pyywp4.pdf ./txt/work_zp7e4tblb5ckvjkx7gp2pyywp4.txt