Correlation of features on OCT with visual acuity and Gass lesion type in Best vitelliform macular dystrophy.

Objective: To correlate structural features seen on optical coherence tomography (OCT) with best-corrected visual acuity (BCVA) and Gass lesion type in patients with Best vitelliform macular dystrophy (BVMD).

Methods And Analysis: This is a retrospective case series of consecutive patients with molecularly confirmed associated BVMD. OCT scans were reviewed for lesion status and presence of subretinal pillar, focal choroidal excavation (FCE), intraretinal fluid or atrophy.

Development of a Molecularly Stable Gene Therapy Vector for the Treatment of -Associated X-Linked Retinitis Pigmentosa.

In a screen of 1,000 consecutively ascertained families, we recently found that mutations in the gene are the third most common cause of all inherited retinal disease. As the two most frequent disease-causing genes, and , are far too large to fit into clinically relevant adeno-associated virus (AAV) vectors, is an obvious early target for AAV-based ocular gene therapy. In generating plasmids for this application, we discovered that those containing wild-type sequence, which includes the highly repetitive low complexity region ORF15, were extremely unstable (, they showed consistent accumulation of genomic changes during plasmid propagation).

Generation of Xeno-Free, cGMP-Compliant Patient-Specific iPSCs from Skin Biopsy.

This unit describes protocols for the generation of clinical-grade patient-specific induced pluripotent stem cell (iPSC)-derived retinal cells from patients with inherited retinal degenerative blindness. Specifically, we describe how, using xeno-free reagents in an ISO class 5 environment, one can isolate and culture dermal fibroblasts, generate iPSCs, and derive autologous retinal cells via 3-D differentiation. The universal methods described herein for the isolation of dermal fibroblasts and generation of iPSCs can be employed regardless of disease, tissue, or cell type of interest.

Two-photon polymerization for production of human iPSC-derived retinal cell grafts.

Unlabelled: Recent advances in induced pluripotent stem cell (iPSC) technology have paved the way for the production of patient-specific neurons that are ideal for autologous cell replacement for treatment of neurodegenerative diseases. In the case of retinal degeneration and associated photoreceptor cell therapy, polymer scaffolds are critical for cellular survival and integration; however, prior attempts to materialize this concept have been unsuccessful in part due to the materials' inability to guide cell alignment. In this work, we used two-photon polymerization to create 180μm wide non-degradable prototype photoreceptor scaffolds with varying pore sizes, slicing distances, hatching distances and hatching types.

The ClC-3 Cl-/H+ antiporter becomes uncoupled at low extracellular pH.

Adenovirus expressing ClC-3 (Ad-ClC-3) induces Cl(-)/H(+) antiport current (I(ClC-3)) in HEK293 cells. The outward rectification and time dependence of I(ClC-3) closely resemble an endogenous HEK293 cell acid-activated Cl(-) current (ICl(acid)) seen at extracellular pH View Article and Find Full Text PDF

Overexpression of CLC-3 in HEK293T cells yields novel currents that are pH dependent.

ClC-3 is a member of the ClC family of anion channels/transporters. Recently, the closely related proteins ClC-4 and ClC-5 were shown to be Cl(-)/H(+) antiporters (39, 44). The function of ClC-3 has been controversial.

Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.

Genetic and pharmacological studies have shown that the melanocortin-4 receptor (MC4R) is an important regulator of food intake and energy homeostasis. Consistent with these studies, several mutations of the MC4R gene have been identified as being associated with early-onset severe obesity. We report here the first in-frame deletion mutation of the MC4R gene (delta88-92) in an obese female patient with onset of obesity at less than 5 yr of age.