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Y. Leiderman, D. Vavvas, S. Mukai; Novel Clinical, Histopathologic, and Electron Microscopic Findings in Microphthalmia with Uveal Effusions in the Hallermann-Streiff Syndrome. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5782.
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The constellation of microphthalmia, congenital cataract, proportionate dwarfism, dyscephaly with bird-like facies, hypotrichosis, and hypoplastic mandible with beaked nose comprise the Hallermann-Streiff syndrome. We describe clinical features not previously associated with this entity, and correlate these findings with light (LM) and electron microscopic (EM) observations.
Clinical, ultrasonographic (US), optical coherence tomographic (OCT), LM, and EM investigations of a 7 year-old girl with the Hallermann-Streiff syndrome.
Clinical examination revealed normal corneal diameter, cataract, posterior microphthalmia, and serous detachment of the macula in each eye. OCT and US confirmed retinal detachment and microphthalmia. Sequential bilateral 4-quadrant partial-thickness sclerotomies (scleral windows) were performed. Intraoperative examination revealed blue-hued sclerae and the absence of vortex veins in all quadrants of each eye. LM of resected scleral tissue revealed dense connective tissue with interspersed cystic cavities. EM revealed haphazard arrangement of tightly apposed collagen bundles with little or no extra-fiber space. No frayed or thin fibrils were observed; collagen fibrils were 90-120 nm in diameter. In addition, large uniformly staining oval pools 15-90 microns in diameter were noted within the stroma, some surrounded by cell cytoplasm, suggestive of lipocytes.
We report a case of Hallermann-Streiff syndrome exhibiting blue-hued sclera of normal thickness with cystic cavities, haphazardly arranged collagen fibrils of normal diameter, and the absence of vortex veins. These findings suggest that abnormalities in both the choroidal venous drainage system and sclera play a critical role in the etiology of uveal effusion and retinal detachment in this syndrome.
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