Microphthalmos

Abstract: 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, previously implicated in autosomal recessive forms of nanophthalmos/microphthalmos, were analyzed as candidate genes for this novel disease. METHODS Complete ophthalmologic examinations were performed in four affected siblings and their parents. Ophthalmologic manifestations, fundus photographs, ultrasonographic (US) assessment, electroretinography (ERG), fluorescein retinal angiography (FA), Goldmann kinetic perimetry (GKP), and optical coherence tomography (OCT), as well as mutational status of MFRP and CHX10 genes in genomic DNA. RESULTS In all affected siblings, ophthalmologic examination demonstrated normal horizontal corneal diameters and high hyperopia; funduscopy, ERG, and FA evidenced a progressive retinal dystrophy compatible with retinitis pigmentosa; A- and B-mode ultrasonography revealed decreased axial eye length and optic disc drusen; OCT showed localized macular retinoschisis. MFRP molecular analysis disclosed a one base pair insertion in exon 5 (c.498_499insC) in all affected individuals, a mutation that predicts a truncated protein (P165fsX198). Both parents were heterozygous for this mutation. CONCLUSIONS A distinct autosomal recessive ophthalmic syndrome characterized by microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is described. We demonstrated that this clinical association is caused by a mutation in MFRP, a gene previously implicated in isolated nanophthalmos. Our data indicate that defects in MFRP could be responsible for syndromic forms of microphthalmos/retinal degeneration and that this gene is necessary for photoreceptor maintenance.

Abstract: This article deals briefly with the embryology of choroidal coloboma, the changes found in 13 persons with colobomas, and some details of the management of 7 cases of retinal detachment observed in eyes with choroidal coloboma. Our material is compiled from the records of the Retina Service of the Massachusetts Eye and Ear Infirmary and the Retina Associates between 1947 and 1959. Coloboma of the choroid is often associated with other pathologic changes in the eye, such as microphthalmos, high myopia, glaucoma, cataract, and phthisis bulbi, so that in many cases the visual function is impaired. Retinal detachment is a real hazard to colobomatous eyes. A brief survey of the literature indicates that observation of this condition is not very rare.1,2,3 The special problems it presents in examination and treatment are discussed in this article. Developmental Pathology of Choroidal Coloboma During normal development the fetal fissure becomes closed by fusion

Abstract: PRENATAL and neonatal retinopathy with congenital cerebral dysplasia is a rare syndrome. It is believed that the term "congenital encephalo-ophthalmic dysplasia" would be a suitable name for this disease, since chiefly the brain and the retina with their associated structures (but not the spinal cord) are affected by the disease, which has its origin in prenatal life. Parts of the syndrome occurring in a few cases have been described previously, but the disease has not been studied as a general pathologic process and a clinical entity. Various aspects have been presented—the ocular disease by the ophthalmologists, the cerebral dysplasia and hydrocephalus by the neurologists and the blindness and mental retardation by psychologists and psychiatrists. The disease is characterized by retinal and cerebral hypoplasia and hyperplasia. The ocular disease is made manifest by the secondary changes ; these include microphthalmos ; malformations of the retina, choroid and optic nerve ; retinal dysplasia ; retinal glial