Cases reported "microphthalmos"

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1/294. True hermaphroditism associated with microphthalmia.

    A 4-year-old boy with an undescending left testis, penoscrotal hypospadia and bilateral microphthalmia was admitted to our hospital. Chromosome analysis revealed a karyotype of 46, XX del(x)(p2 2,31) and the sex-determining region of the y chromosome (SRY) was negative. The right testis was located in the scrotum and a left cystic ovary-like gonad, a salpinx and a unicorn uterus were found in the left inguinal canal. Histologically the gonad was an ovotestis in which primordial follicles covered infantile seminiferous tubules. Microphthalmia is observed in some congenital syndromes caused by interstitial deletion of the x chromosome. This case suggested that the short arm of the x chromosome was involved in the differentiation of the gonad. Very closely located follicles and infantile seminiferous tubules indicated that induction of meiosis in the fetus was controlled by the local microenvironment in follicles and seminiferous tubules, and not by the systemic hormonal condition. ( info)

2/294. retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report.

    OBJECTIVE: Although the associations of retinitis pigmentosa (RP) with nanophthalmos/microphthalmos and RP with optic disc drusen have previously been recognized, the concurrence of all three features, as far as the authors are aware, has not previously been reported. DESIGN: Case report. RESULTS: The authors report a sporadic case of nanophthalmos, RP, and optic nerve drusen with the additional complication of chronic angle closure glaucoma. CONCLUSIONS: Visual loss may be secondary to the complications of nanophthalmos, RP, or optic nerve drusen. Chronic angle closure may be caused by choroidal effusion with serous retinal detachment, which may, in turn, cause a pseudo-RP picture. It is therefore important to recognize the possible association of true RP with nanophthalmos as a cause for visual deterioration. ( info)

3/294. 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. ( info)

4/294. 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. ( info)

5/294. Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous.

    PURPOSE: To report an unusual case of familial exudative vitreoretinopathy in an infant. methods: Case report. A 6-day-old girl had unilateral microphthalmia in the right eye, with a retrolental plaque initially diagnosed as persistent hyperplastic primary vitreous. Three months later, peripheral retinal vascular changes and a fibrovascular ridge were noted in the left eye, suggesting familial exudative vitreoretinopathy as the cause in both eyes. RESULTS: The microphthalmic right eye was unsalvageable. The left eye developed an exudative retinal detachment despite photocoagulation of the peripheral avascular retina. Additional cryotherapy resulted in resolution of the detachment and regression of the vascular changes. CONCLUSIONS: With highly asymmetric involvement, neonatal familial exudative vitreoretinopathy can mimic persistent hyperplastic primary vitreous. Fellow eye involvement can progress rapidly. ( info)

6/294. syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.

    We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. No evidence of intrauterine infection was found. There have been previous reports of microcephaly, intracranial calcification, and an intrauterine infection-like autosomal recessive condition, but the sibs in this report appear to represent a more severe form of such a condition or a previously undescribed entity. ( info)

7/294. prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease.

    We report a case of nonmosaic trisomy 9 presenting at 21 weeks of gestation with polycystic, echogenic horseshoe kidney, collapsed bladder, absent amniotic fluid, and intrauterine growth restriction. color Doppler imaging demonstrated no blood flow signals from renal vessels. fetal blood sampling confirmed a 47,XX, 9 karyotype, with no evidence of mosaicism, and increased serum beta2-microglobulin levels of 10.7 mg/l, consistent with severe renal failure. A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect. Follow-up examinations showed progressive growth restriction leading to fetal death at 33 weeks of gestation. This report demonstrates that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome. ( info)

8/294. 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. ( info)

9/294. Ophthalmic manifestation of congenital protein c deficiency.

    Under normal conditions activated protein C is a natural anticoagulant that cleaves 2 activated coagulation factors, factor va and factor viiia, thereby inhibiting the conversion of factor X to factor xa and of prothrombin to thrombin. Additionally, activated protein C enhances tissue-plasminogen activator-mediated fibrinolysis by inhibition of plasminogen activator inhibitor-1. This results in an increase in circulatory plasminogen activator levels. protein c deficiency, a genetic or acquired thrombophilic abnormality, has been demonstrated to predispose to episodes of potentially blinding and lethal thromboembolic events. Heterozygous-deficient subjects usually remain asymptomatic until adolescence or adulthood. In homozygous-deficient patients, protein C activity is usually less than 1% (reference range, 70%-140%), resulting in thromboembolism as early as in the neonatal period. The major clinical symptoms in affected newborn infants have been purpura fulminans, vitreous hemorrhage, and central nervous system thrombosis. The age of onset of the first symptoms has ranged from a few hours to 2 weeks after birth, usually after an uncomplicated full-term pregnancy and delivery. In contrast to the genetic form, acquired neonatal protein c deficiency occurs particularly in ill preterm babies. Typical complications of prematurity such as respiratory distress syndrome, necrotizing enterocolitis, and neonatal sepsis may also be present. In the medical literature, there are only a few reports of homozygous protein c deficiency in neonates. We present 2 cases of homozygous protein c deficiency with ocular and extraocular manifestation. ( info)

10/294. Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?

    We present the prenatal diagnosis of a 22-week-gestation fetus with unilateral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, and intrauterine growth retardation. The "association" of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described previously in two patients but the resemblance was not noted by the authors. While each case differs slightly in some of the associated anomalies, it is evident that the mainstay of diagnosis is similar to the case presented here and that this represents a new syndrome or association. ( info)
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