1/55. The use of contact B mode ultrasound in pediatric ophthalmology.It has been shown that an ultrasound system such as the Bronson-Turner Contact B Mode can be added, fruitfully, to the armamentarium of the individual pediatric ophthalmologist. It can be used quickly and precisely with an ophthalmological training and without patient discomfort or anesthesia no matter what the age. Valuable anterior segment information can be readily gained without a waterbath. Examples are shown of children with opaque media who were found to have congenital cataracts and congenital aphakia, microphthalmos, PHPV, retinal anomalies and ectatic coloboma.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
2/55. microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syndrome.- - - - - - - - - - ranking = 5keywords = coloboma (Clic here for more details about this article) |
3/55. Bilateral microcornea and unilateral macrophthalmia resulting in incorrect intraocular lens selection.A 79-year-old man with symmetrical microcornea and a dense unilateral nuclear sclerotic cataract had cataract extraction by phacoemulsification. The SRK/T formula suggested a 10.0 diopter (D) intraocular lens (IOL) for emmetropia (axial length 26.58 mm). The non-cataract eye required a 25.0 D IOL for emmetropia (axial length 21.51 mm). Biometric measurements were rechecked, and an 18.0 D IOL was implanted (axial length 24.02 mm). The 6 week postoperative refraction of -13.0 2.0 x 25 necessitated IOL exchange (10.0 D). Six weeks postexchange, the refraction was -3.75 2.5 x 30. This illustrates that symmetrical anterior microphthalmos does not always coexist with symmetrical posterior microphthalmos. awareness of the association of symmetrical microcornea and unilateral colobomatous macrophthalmia may aid appropriate IOL selection in future cases.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
4/55. Peters' anomaly: dominant inheritance in one pedigree and dextrocardia in another.Two case reports are described to illustrate the unusual occurrence of dominant inheritance of Peters' anomaly and the concomitant occurrence of Peters' anomaly with colobomatous microphthalmos and dextrocardia. Studies of additional families are necessary to determine conclusively the pathogenesis, genetic mode of inheritance, ocular and systemic associated malformations, and proper management of this complex entity.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
5/55. optic nerve coloboma with retinal degeneration associated with cystic microphthalmia of the other eye.In a seventy-five-year old man an optic nerve coloboma with generalised retinal degeneration associated with a cystic microphthalmia of the other eye is described. The MR imaging revealed the existence of a left microphthalmic eye with a lower lid cyst. From the other eye an optic nerve coloboma with a cystic ectasia of the coloboma area freely open to the vitreous cavity was apparent. The ERG recorded from this eye was extinguished.- - - - - - - - - - ranking = 7keywords = coloboma (Clic here for more details about this article) |
6/55. Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?We report on a 3.5-year-old girl with microcephaly, microphthalmia, coloboma of the iris, mild developmental delay, and other minor anomalies. neuroimaging showed marked cerebellar and vermian hypoplasia. This condition has not been described previously and is discussed in the context of the "micro syndrome," together with other similar syndromes. Our case highlights the heterogeneity of the "microphthalmia plus brain malformations" group of patients.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
7/55. microphthalmos and optic disc coloboma associated with a retrobulbar cyst.The combination of microphthalmos, optic nerve coloboma, and retrobulbar cyst is very rare. We present such a case, demonstrated by ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI).- - - - - - - - - - ranking = 5keywords = coloboma (Clic here for more details about this article) |
8/55. Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).A term Caucasian male infant, born to a healthy non-related couple, was noted at birth to have bilateral edema and bluish discoloration of the lower eyelids. On physical examination, the eye globes were not visualized and hypertelorism was noted. Radiological imaging revealed large bilateral orbital cysts, microphthalmos, and severe optic nerve hypoplasia. Histological study of the excised orbital masses showed cysts lined by primitive, immature retinal tissue which contained neuroglial elements and scattered dysplastic rosettes. Chromosome analysis revealed an apparent balanced reciprocal translocation between the long arm of chromosome 3 and 5, i.e. 46, XY, t (3; 5) (q27; q11.2).Chromosome studies in parents were normal. To our knowledge, the association of this balanced translocation and microphthalmos with cyst has not been previously described in the English literature.- - - - - - - - - - ranking = 4keywords = coloboma (Clic here for more details about this article) |
9/55. Genetic mapping of a novel X-linked recessive colobomatous microphthalmia.Colobomatous microphthalmia is a common ocular malformation with a heterogeneous phenotype. The majority of cases without associated systemic abnormalities have an autosomal dominant inheritance pattern [McKusick, 1990: Mendelian inheritance in man]. A few isolated cases with autosomal recessive transmission have been described [Zlotogora et al., 1994: Am J Med Genet 49:261--262]. To our knowledge, no cases of X-linked colobomatous microphthalmia that are not a part of a syndrome or a multisystem disorder have been reported. In this study, we describe a genetic and clinical evaluation of a large pedigree in which colobomatous microphthalmia is segregating in an X-linked recessive fashion. Based on recombination breakpoint analysis, we have determined that the critical interval exists between markers DXS989 and DXS441, placing the disease locus on the proximal short arm or the proximal long arm of the x chromosome. Using linkage analysis, we obtained two-point lod scores of 2.71 at zero recombination with markers DXS1058, DXS6810, DXS1199, and DXS7132. Overlapping multipoint analysis established a broad maximum from marker DXS1068 to marker DXS7132, a region spanning approximately 28 cM. This study provides evidence for the presence of a new locus for colobomatous microphthalmia.- - - - - - - - - - ranking = 7keywords = coloboma (Clic here for more details about this article) |
10/55. Five cases of microphthalmia with other ocular malformations.We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length. The size of the globe was measured by using computerized tomographic scans (CT scan), A-scan ultrasonography, or magnetic resonance imaging (MRI). There is a limited range of well-described malformation, including anterior or posterior segment dysgenesis or combined pathology such as corneal opacity, small cornea, iris hypoplasia, lens dislocation, cataract, chorioretinal coloboma, persistent hyperplastic primary vitreous (PHPV), retinal dysplasia, and intraocular tumor. Corneal diameters were correlated significantly with total axial length (r2 = 0.88) and decreased linearly as the total axial length decreased in these cases. However, there was no relationship seen between the total axial length and posterior segment length (r2 = -0.06). The results of this study may aid the clinical ophthalmologist to accurately understand or assess microphthamia combined with other ocular malformations.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
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