1/1067. A case of Austrian's syndrome with ocular involvement.A man with a history of alcohol abuse was admitted to hospital with pneumonia and meningitis due to streptococcus pneumoniae. Because of the worsening of respiratory function and the persistence of fever, an echocardiographic examination was made, which showed endocarditis with destruction of the aortic valve. The patient underwent surgical valve replacement. In addition, he showed a choroiditis in the left eye which improved after antibiotic therapy. The interest of this case lies in the rarity of the triad described as Austrian's syndrome and in the coexistent fourth septic localization, namely in the left eye.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
2/1067. Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classification.We report phakomatosis pigmentovascularis detected in a Caucasian child characterized by the presence of a nevus flammeus and nevus anemicus on the face, a telangiectatic linear nevus of the right leg, and a very extensive blue spot covering 60% of the body surface, with ocular melanosis. Multiple angiomatous lesions of the kidney are associated without alterations of the central nervous system (CNS). This association has not been reported before; it could be a further expression of the complex of developmental defects. Our case corresponds exactly to type IIb in the classification of phakomatosis pigmentovascularis proposed by Hasegawa. As this classification seems very extensive, the higher incidence of cases corresponding to the second subtype suggests that we should identify it by the term phakomatosis pigmentovascularis, while the others could be considered as only very uncommon variants.- - - - - - - - - - ranking = 0.25keywords = ocular (Clic here for more details about this article) |
3/1067. ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome.An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.- - - - - - - - - - ranking = 1.25keywords = ocular (Clic here for more details about this article) |
4/1067. Nevoid basal cell carcinoma syndrome.A case report of a young girl with nevoid basal cell carcinoma syndrome is presented. The patient showed cutaneous and skeletal findings characteristic of the syndrome. Multiple basal cell carcinomas, rib abnormalities, along with clinical evidence of frontal bossing and ocular hypertelorism were the primary features of the syndrome in this patient. It is suggested that other characteristics of the syndrome, such as jaw cysts, palmar and plantar pitting and calcification of the falx cerebri will develop as the patient grows older. Careful observation, particularly for medulloblastoma and malignant degeneration and invasiveness of basal cell carcinomas, will be an integral part of this young patient's care.- - - - - - - - - - ranking = 0.25keywords = ocular (Clic here for more details about this article) |
5/1067. Clinical characteristics of charge syndrome.charge syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of charge syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning charge syndrome.- - - - - - - - - - ranking = 0.25keywords = ocular (Clic here for more details about this article) |
6/1067. Ophthalmic findings in GAPO syndrome.BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.- - - - - - - - - - ranking = 0.25keywords = ocular (Clic here for more details about this article) |
7/1067. Atypical herpes simplex encephalitis presenting as operculum syndrome.This case report demonstrates the course of herpes simplex virus cerebritis in a patient aged 7 years 2 months who presented with non-specific symptoms followed by an epileptic attack. Subcortical, bilateral opercular and bilateral thalamic lesions were detected, but the temporal and inferior frontal lobes were spared. The patient developed anarthria, impairment of mastication and swallowing consistent with operculum syndrome. diagnosis was made by magnetic resonance imaging and elevation of oligoclonal antibodies specific to herpes simplex virus in cerebrospinal fluid after an unexpectedly negative polymerase chain reaction test.- - - - - - - - - - ranking = 2.0778016277279keywords = herpes simplex, simplex, herpes (Clic here for more details about this article) |
8/1067. Ocular changes in mucopolysaccharidosis iv A (Morquio A syndrome) and long-term results of perforating keratoplasty.BACKGROUND: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). PATIENT PRESENTATION: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. visual acuity OD cc = 0.16, OS cc = 0.05. electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. TREATMENT AND COURSE OF disease: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. visual acuity now reduced to OD 0.05, OS 0.1. CONCLUSIONS: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation - even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results.- - - - - - - - - - ranking = 0.25keywords = ocular (Clic here for more details about this article) |
9/1067. pyoderma gangrenosum complicating Cogan's syndrome.Cogan's syndrome is a rare clinical entity defined by the association of a nonsyphilitic interstitial keratitis and vestibuloauditory dysfunction, typically Meniere's disease-like; the condition has been reported in association with a variety of cutaneous diseases. We now report a case of pyoderma gangrenosum complicating Cogan's syndrome in a 57-year-old woman, which then healed dramatically, as more interestingly did the associated uveitis with minocycline therapy.- - - - - - - - - - ranking = 1.2078429018996keywords = keratitis (Clic here for more details about this article) |
10/1067. Progressive facial hemiatrophy (Parry-Romberg syndrome).Three cases of progressive facial hemiatrophy are presented. In all three cases there is evidence of localised scleroderma or morphea in association with the facial hemiatrophy. This would seem to support the contention that the two disorders are closely related. In two cases, ocular complications are prominent and in one Raynaud's phenomena provide clear asymmetrical dilatation of the lateral ventricle suggest that there may be a central rather than a peripheral cause for the sympathetic overactivity.- - - - - - - - - - ranking = 0.25keywords = ocular (Clic here for more details about this article) |
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