1/70. persistent hyperplastic primary vitreous with retinal tumor in tuberous sclerosis: report of a case including tumoral immunohistochemistry and cytogenetic analyses.OBJECTIVE: The authors describe an ocular lesion combining the characteristics of persistent hyperplastic primary vitreous (PHPV) and a retinal tumor in an infant with tuberous sclerosis complex (TSC). STUDY DESIGN: Case report. methods: immunohistochemistry and cytogenetic studies were performed on TSC cells from an intraocular tumor in a 6-week-old infant. RESULTS: Histopathologic examination showed a thick fibrovascular membrane between the aspect of the lens and the astrocytic component of the mass. glial fibrillary acidic protein (GFAP) showed a variable intracytoplasmic reaction in the astrocytic proliferation, involving approximately 50% of the cells. Tissue culture studies showed a fairly rapid proliferation of fusiform cells, consistent with bipolar astrocytic cells. Cytogenetic studies showed one abnormal clone consisting of three hyperdiploid cells with a loss of chromosome 9 and a gain of chromosomes 6 and 12. CONCLUSION: The atypical localization of the retinal tumor could be explained by the fact that it was trapped during its proliferation by the retinal detachment associated with the PHPV.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/70. A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome.Blepharo-naso-facial syndrome, described by Pashayan et al. (10), is characterized by telecanthus, lateral displacement and stenosis of lacrimal puncta, bulky nose, mask-like facies, trapezoidal upper lip, torsion dystonia and mental retardation. We report on a family with this rare malformation syndrome, confirming the existence of this syndrome and its dominant inheritance. The proband had a fleshy nose, a prominant nose bridge, an hypoplastic midface, telecanthus with temporal displacement of puncta, lacrimal excretory obstruction. CNS torsion dystonia, increased deep tendon reflexes, Babinski reflexes, poor coordination and joint laxity. The proband's mother, brother and maternal grandfather also showed manifestations of the syndrome. The proband and his brother had delayed developmental milestones. hearing impairment was present in the proband, his mother and his grandfather but was absent in the proband's brother. The blepharonasofacial syndrome was described by Pashayan et al. (10) in four members of one family, two male and one female sib and their mother. Two other sibs were unaffected. Many of the features of the blepharo-facio-nasal syndrome also occur in other well known syndromes i.e. waardenburg syndrome. The pedigrees of the family of Pashayan et al. (10) and of our family are compatible with Mendelian dominant inheritance, either autosomal or X-linked. X-linked dominant inheritance cannot be ruled out except by male-to-male transmission, which does not occur in these families. Pashayan et al. (10) suggested that an autosomal gene with variable expressivity appears more likely. More families are needed for defining the transmission of the condition and for mapping the gene involved in the blepharo-naso-facial syndrome.- - - - - - - - - - ranking = 7.7411591448993keywords = member (Clic here for more details about this article) |
3/70. Basal lamina abnormality in the skeletal muscle of walker-warburg syndrome.The basal lamina of skeletal muscle fibers has been reported to be thinned and disrupted in patients with Fukuyama and laminin-alpha-2-deficient congenital muscular dystrophies. The basal lamina is normal in other, later-onset, muscular dystrophies, but the plasma membrane is disrupted. It is unknown whether the dystrophic process in walker-warburg syndrome (WWS) is characterized by a basal laminal abnormality, a sarcolemmal abnormality, or both. The present study examined the skeletal muscle of a 3-month-old patient with WWS by immunohistochemistry and electron microscopy and compared the findings with control muscle samples. In control samples the basal lamina of skeletal muscle fibers was a continuous, uniformly dense structure associated with sarcolemma. In WWS the basal lamina appeared deranged, with disruptions in nonnecrotic muscle fibers. Furthermore, in some fibers the basal lamina was thinner, and in others, it was duplicated. dystrophin, laminin-alpha-2, and adhalin stains revealed normal immunoreactivity. The disruptions in the basal lamina may play a primary role in the degeneration of muscle fibers in WWS. When compared with the dystrophies with a primary sarcolemmal defect, it appears that those with primary basal lamina abnormalities (WWS, laminin-alpha-2-deficient, and Fukuyama congenital muscular dystrophies) present early in life, and the phenotype is more severe.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
4/70. A case of walker-warburg syndrome.walker-warburg syndrome (WWS) is an autosomal recessive disorder characterized by type II lissencephaly, cerebellar and retinal anomalies, and congenital muscular dystrophy. We report a female diagnosed with WWS based on clinical criteria. This patient was found to have fetal hydrocephalus on ultrasonography at 29 weeks of gestation, and exhibited severe hypotonia, ocular malformations, and hydrocephalus at birth. MRI revealed type II lissencephaly, hydrocephalus, and other severe brain malformations. Genetic analysis was performed to distinguish WWS from severe Fukuyama-type congenital muscular dystrophy (FCMD), which has numerous findings in common. This revealed no expression of the founder haplotype or single-stranded conformation polymorphism (SSCP) abnormalities. Since the life expectancy of patients with FCMD is longer, differential diagnosis should be performed precisely.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
5/70. Clinical features of incontinentia pigmenti with emphasis on dermatoglyphic findings.incontinentia pigmenti is a syndrome characterized by both systemic and oral manifestations. Presented here are the dental, clinical, radiological, genetic and dermatoglyphic findings of a 6 year old female case and her family members. The following features were apparent: oligodontia in maxillary and mandibular arches in both dentition, peg-shaped incisors and brown lesions on the body surface. No other problems were observed. The case had remarkable dermatoglyphic findings such as hypothenar loops associated with distally displaced axial triradii on both palms, reduced total finger and summed palmar a-b ridge-counts, decreasing plantar pattern intensity on the left sole. The other family members had similar dermatoglyphic characteristics. The paternal grand father, the father and the brother had eye defects.- - - - - - - - - - ranking = 145.88731151322keywords = family member, member (Clic here for more details about this article) |
6/70. Multiple congenital ocular anomalies with bilateral agenesis of the urinary tract.A 1,350 gm female infant with features of the Potter syndrome (dysplasia renofacialis) had multiple ocular anomalies. Absence of keratocytes in the central corneal stroma, cataract, retinal ganglion cell and nerve fiber hypoplasia, loss of optic nerve bundles, and angiomatoid proliferation in the area of the optic disc are most striking. Some of these findings, especially in the cornea, may reflect mesoectodermal dysgenesis. Abnormal ocular angiogenesis may well comprise a part of Potter's syndrome.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
7/70. Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia.BACKGROUND: Congenital fibrosis of the extraocular muscles (CFEOM) is a rare condition that has been traditionally regarded as a primary eye muscle disease. Recent studies, however, suggest that CFEOM may be the result of a primary neuropathy with secondary myopathic changes. PURPOSE: To describe a previously unrecognized association between congenital fibrosis of the extraocular muscles and structural abnormalities of the brain. DESIGN: Small case series. methods: Detailed clinical examinations and neuroradiologic studies were performed on the three affected family members. In addition, genetic analysis of the family was performed. RESULTS: The three affected family members, mother and two children, have the ocular features of 'classic' congenital fibrosis of the extraocular muscles. All showed dilation of the left lateral ventricle secondary to hypoplasia of the body and tail of the ipsilateral caudate nucleus. There was fusion of an enlarged caudate nucleus head with the underlying putamen. Both children showed widespread bilateral cortical dysplasia. Genetic analysis of the family was inconclusive but consistent with linkage to the CFEOM1 locus on chromosome 12. Chromosomal analysis of the affected individuals did not show evidence of a deletion of chromosome 12 and haplotype analysis was not suggestive of a microdeletion. CONCLUSIONS: Cerebral cortical and basal ganglia maldevelopment can be found in individuals with CFEOM. This suggests that neuroimaging should be considered in the initial diagnostic evaluation of these patients, particularly if there is developmental delay.- - - - - - - - - - ranking = 145.88731151322keywords = family member, member (Clic here for more details about this article) |
8/70. choroidal neovascularization associated with aplasia of the optic nerve.PURPOSE: To report an unusual case of unilateral aplasia of the optic nerve associated with choroidal neovascularization. DESIGN: Observational case report. methods: In a 29-year-old female with optic nerve aplasia of the right eye and no choroidal neovascularization at age 23 years, choroidal neovascularization of the right eye was present by ophthalmoscopy and fluorescein angiography. RESULTS: fluorescein angiography disclosed de novo choroidal neovascularization corresponding to fibrovascular proliferation evident on ophthalmoscopy at age 29 years. CONCLUSION: choroidal neovascularization may develop de novo during adult life in an eye with optic nerve aplasia.- - - - - - - - - - ranking = 0.66666666666667keywords = life (Clic here for more details about this article) |
9/70. Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.PURPOSE: To report the clinical and electrophysiological findings in a three-generation pedigree with autosomal dominant vitreoretinochoroidopathy. methods: Sixteen members of a three-generation pedigree with autosomal dominant vitreoretinochoroidopathy were examined clinically, including measurement of the corneal diameter. In 14 persons, Goldmann perimetry, axial length determination and electro-oculography were carried out. electroretinography, according to ISCEV standards, was performed in 11 of 12 affected persons. RESULTS: Characteristic annular peripheral pigmentary changes were present in all affected members, as well as chorioretinal atrophy varying from a tigroid aspect to marked atrophy. Four patients presented a microcornea and shallow anterior chamber without microphthalmia. The visual fields appeared to narrow with ageing. The electro-oculography was pathological in the affected patients and normal in the unaffected. The electroretinographic amplitude responses tended to worsen with age, with maintenance of near normal latencies. CONCLUSION: The clinical presentation of autosomal dominant vitreoretinopathy is variable. electrooculography seems to be a discriminative test. The condition may be associated with anterior segment abnormalities other than presenile cataract, such as microcornea, shallow anterior chamber and angle closure glaucoma.- - - - - - - - - - ranking = 15.482318289799keywords = member (Clic here for more details about this article) |
10/70. Uncontrolled glaucoma secondary to an arteriovenous malformation in a Weill-Marchesani patient.BACKGROUND: weill-marchesani syndrome is a rare condition with ocular and systemic manifestations. Common ocular signs are microspherophakia, ectopia lentis, and secondary glaucoma. The glaucoma is usually treatable through medical or surgical management. The most-common arteriovenous malformation (AVM) with ocular effects is the carotid-cavernous sinus fistula. It is very uncommon to observe ocular complications from an AVM in the area of the straight sinus and vein of Galen. AVMs in any location are unusual with weill-marchesani syndrome. CASE REPORT: We present a case of severe asymmetric glaucoma in a Weill-Marchesani patient with an AVM in the area of the straight sinus and vein of Galen. The patient demonstrates the known clinical signs of weill-marchesani syndrome: short stature, microspherophakia, lens subluxation, and secondary glaucoma. An AVM is diagnosed with corresponding monocular proptosis and asymmetric glaucoma. The patient's serious systemic health problems and the location of the AVM make treatment difficult. CONCLUSION: This case documents the very unusual occurrence of unresponsive glaucoma secondary to an AVM not located in the cavernous sinus. The weill-marchesani syndrome may be partially responsible for the glaucoma. patients with weill-marchesani syndrome require early diagnosis in order to treat serious ocular and life-threatening systemic complications.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
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