1/5. Adreno-leukodystrophy with microphthalmia. A condition marked by general organ hypoplasia.A 5-6/12 year old male child who was noted to have neurological impairment at birth, eventually died with widespread neurological disease. Pathological findings were compatible with adreno-leukodystrophy, but also showed microphthalmia and diffuse organ hypoplasia. A review of the clinical and pathological characteristics of adreno-leukodystrophy of previous cases and the current case suggests that the range of the disease spectrum may well involve most organs of the body. The possibility of an inherited membrane deficit is entertained.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/5. Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy: a rare syndrome.The simultaneous occurrence of nanophthalmos, angle closure glaucoma and pigmentary retinal dystrophy documented in the present case represents a rare syndrome.- - - - - - - - - - ranking = 676.34024703949keywords = retinal dystrophy, dystrophy (Clic here for more details about this article) |
3/5. Bilateral nanophthalmos and pigmentary retinal dystrophy--an unusual syndrome.BACKGROUND: To report the clinical picture of the rare association of nanophthalmos and pigmentary retinal dystrophy and its cataract surgery outcome. methods: We report a case of a 60-year-old female who presented with bilateral slowly progressive visual loss. RESULTS: The patient presented with bilateral light perception visual acuity, exotropia, brunescent cataract hindering fundus examination and hypodontia. ultrasonography revealed bilateral nanophthalmos. A visual-evoked potential was also performed preoperatively. cataract surgery with 40D IOL implantation was uneventful. Postoperative fundus examination revealed pigmentary retinal dystrophy, confirmed by electrophysiologic tests. Glycosaminoglycan urinary excretion was normal. CONCLUSIONS: Congenital bilateral nanophthalmos may rarely be associated with pigmentary retinal dystrophy. We suggest thorough preoperative evaluation in nanophthalmic eyes for the exclusion of significant features concerning visual prognosis.- - - - - - - - - - ranking = 946.87634585528keywords = retinal dystrophy, dystrophy (Clic here for more details about this article) |
4/5. 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, 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.- - - - - - - - - - ranking = 135.2680494079keywords = retinal dystrophy, dystrophy (Clic here for more details about this article) |
5/5. Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome?An unusual case of bilateral nanophthalmos with pigmentary retinal dystrophy and angle closure glaucoma is presented. This is probably the first published report of the established association of all these three entities in the same patient. The aetiological possibilities and clinical significance are discussed.- - - - - - - - - - ranking = 676.34024703949keywords = retinal dystrophy, dystrophy (Clic here for more details about this article) |