Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.

Purpose: The aim of this study was to report a novel PRDM5 pathologic variant and ophthalmic findings in a family with 3 children diagnosed with brittle cornea syndrome (BCS). Histopathologic findings and surgical outcome of a child with BCS who underwent full-thickness corneal transplant are described.

Methods: This is an observational case report of a nonconsanguineous Laotian family with 3 siblings diagnosed with BCS.

Opacification of hydrophilic intraocular lenses associated with vitrectomy and injection of intraocular gas.

Objective: To report 11 cases of intraocular lens (IOL) opacification after pars plana vitrectomy (PPV) involving intravitreal gas injection.

Methods And Analysis: Eleven cases of hydrophilic IOLs that opacified following PPV with intravitreal gas injection are described. Eight IOLs were explanted and analysed by light microscopy and scanning electron microscopy.

The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients.

The kinetics of T and B cell immune recovery after bone marrow transplantation (BMT) is affected by many pre- and post-transplant factors. Because of the profoundly depleted baseline T and B cell immunity in recombination activating gene 2 (RAG-2)-deficient severe combined immunodeficiency (SCID) patients, some of these factors are eliminated, and the immune recovery after BMT can then be clearly assessed. This process was followed in ten SCID patients in parallel to their associated transplant-related complications.