Cases reported "Hydrophthalmos"

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1/3. Phthisis bulbi and buphthalmos as presenting signs of retinoblastoma: a report of two cases and literature review.

    PURPOSE: To report two cases of bilateral retinoblastoma (RB) with unusual presentations. methods: The medical records of 321 patients from the retinoblastoma Referral Center in Siena were reviewed. A total of 111 patients had bilateral RB, 2 of them presenting with phthisis bulbi and buphthalmos. Both patients underwent bilateral enucleation. Clinical features, imaging studies, and histopathology were reviewed. RESULTS: These 2 cases represent 0.62% (2/321) in our series. Histopathology did not reveal viable tumor cells in the phthisical eyes; in both buphthalmic eyes the tumor was active, infiltrating the choroid and optic nerve. CONCLUSIONS: Phthisis bulbi and buphthalmos are unusual presenting signs of RB. This very rare combination of these two signs in different eyes of the same patient is probably due to a delay in diagnosis.
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2/3. Congenital ectopia lentis and secondary buphthalmos likely occurring as an autosomal recessive trait.

    A family from turkey with congenital ectopia lentis, likely occurring as an autosomal recessive trait, is presented. No systemic disorders such as homocysteinuria, Marfan's or Weill-Marchesani's syndromes were found in any of the patients. However, all patients except one were less than 2 years old when first examined so that lens luxation must have happened very early in life. Besides almost total lack of zonular threads the patients presented anomalies of ocular dimensions with increased corneal diameters and axial lengths, and in several cases glaucomatous distension of the optic discs could also be found. A possible explanation for these buphthalmic changes and their relation to lens luxation taking place very early in life is proposed. The importance of early diagnosis and treatment is discussed.
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3/3. retinal detachment and giant retinal tears in aniridia.

    Clinical findings in aniridia may include corneal epitheliopathy, glaucoma, lens subluxation and cataract, and hypoplasia of the fovea and optic nerve. We report the occurrence of retinal detachment due to giant tears in four eyes of three children with aniridia. All eyes were buphthalmic and none had undergone lens or posterior segment surgery. All operated eyes underwent vitreolensectomy and silicone oil injection; useful vision was restored in two eyes. The pathogenesis and management of this previously unreported complication are discussed.
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