Publications by authors named "T P Dryja"

Objective: To study in a masked fashion whether an objective histological feature associated with keratoconus (KCN) occurs in donor corneas in eyes originally receiving a corneal graft for KCN.

Methods: Two ocular pathologists performed a retrospective masked histological analysis of slides from donor buttons recovered from 21 eyes with a history of KCN undergoing repeat penetrating keratoplasty (failed-PK-KCN), 11 eyes that underwent their first PK due to KCN (primary KCN), and 11 eyes without history of KCN which underwent PK for other conditions (failed-PK-non-KCN). Breaks/gaps in Bowman's layer served as the pathological feature indicative of recurrent KCN.

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EFEMP1 R345W is a dominant mutation causing Doyne honeycomb retinal dystrophy/malattia leventinese (DHRD/ML), a rare blinding disease with clinical pathology similar to age-related macular degeneration (AMD). Aged Efemp1  R345W/R345W knock-in mice (Efemp1ki/ki) develop microscopic deposits on the basal side of retinal pigment epithelial cells (RPE), an early feature in DHRD/ML and AMD. Here, we assessed the role of alternative complement pathway component factor B (FB) in the formation of these deposits.

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Purpose: Dysregulation of the alternative complement pathway is a major pathogenic mechanism in age-related macular degeneration. We investigated whether locally synthesized complement components contribute to AMD by profiling complement expression in postmortem eyes with and without AMD.

Methods: AMD severity grade 1 to 4 was determined by analysis of postmortem acquired fundus images and hematoxylin and eosin stained histological sections.

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Purpose: To find immunohistochemical markers that distinguish adenocarcinoma of the nonpigmented ciliary epithelium (NPCE) from metastatic carcinoma, especially metastatic renal cell carcinoma.

Design: Retrospective case series.

Methods: Three cases of adenocarcinoma of the NPCE were examined histologically with hematoxylin-eosin stain and immunohistochemical stains including vimentin, AE1/AE3, Cam 5.

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Purpose: To explore the value of molecular technologies in the pathologic evaluation, diagnosis, and treatment of retinoblastoma and uveal melanoma.

Methods: Review of the peer-reviewed literature on the molecular pathology of primary intraocular tumors.

Conclusion: Molecular tests are playing an increasingly important role in the diagnosis of intraocular tumors.

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