Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of corneal endothelial cells. In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. We previously mapped PPCD to a region (PPCD3) on chromosome 10 containing the gene that encodes the two-handed zinc-finger homeodomain transcription factor TCF8.

Bilateral eyelid ecchymoses and corneal crystals: an unusual presentation of multiple myeloma.

Purpose: This report describes a case of multiple myeloma that presented as bilateral eyelid ecchymoses and corneal crystals in the absence of widespread signs of systemic disease.

Methods: A 55-year-old man was found to have the sudden appearance of bilateral eyelid ecchymoses after he flexed 90 degrees at the waist. On examination, amyloid deposition was found in the area of the lid ecchymoses, and corneal crystals were dispersed centrally and peripherally throughout all levels of the cornea on slit lamp examination.

A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10.

Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. We mapped a new locus responsible for PPCD in a family in which we excluded the previously reported PPCD locus on 20q11, and the region containing COL8A2 on chromosome 1. Results of a 317-marker genome scan provided significant evidence of linkage of PPCD to markers on chromosome 10, with single-point LOD scores of 2.

Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy.

Purpose: To evaluate the clinical history, histopathology, and genetics of posterior polymorphous corneal dystrophy (PPMD) in a woman with a prominent retrocorneal membrane.

Design: Observational case report and genetic analysis of her family, UM:139.

Methods: Records were reviewed from a case and associated family members.

Cystoid macular edema associated with latanoprost therapy in a case series of patients with glaucoma and ocular hypertension.

Objective: To identify coexisting ocular diagnoses in a case series of eyes that developed cystoid macular edema (CME) associated with latanoprost therapy.

Design: Retrospective observational case series.

Participants: Seven eyes of seven patients who developed CME possibly associated with latanoprost treatment were studied.