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Several dysmorphic syndromes affect the development of both the eye and the ear, but only a few are restricted to the eye and the external ear. We describe a developmental defect affecting the eye and the external ear in three members of a consanguineous f ...
Mutations in RPE65 protein is characterized by the loss of photoreceptors, although the molecular pathways triggering retinal cell death remain largely unresolved. The role of the Bcl-2 family of proteins in retinal degeneration is still controversial. How ...
The retinal pigment epithelium (RPE) is constantly exposed to external injuries which lead to degeneration, dysfunction or loss of RPE cells. The balance between RPE cells death and proliferation may be responsible for several diseases of the underlying re ...
Fourier Domain Optical Coherence Tomography FDOCT is a recent imaging technique based on the principle of Low Coherence Interferometry. In FDOCT cross-sectional images of diffusing objects are synthesised from a measure of backscattered light. The main adv ...
PURPOSE: To perform high speed and completely non-invasive 3D angiography at the optic nerve head region and to reconstruct vectorial 3D blood flow from optically segmented blood vessel structure as a pre-requisite for testing retinal function and physiolo ...
To study the relationship among tyrosinase activity, melanin production, and the routing of retinal ganglion cell (RGC) axons at the optic chiasm, we analysed mice with varying doses of the tyrosinase gene. These include the dark-eyed albino (Tyrc44H), a r ...
Purpose: Choroidal melanoma is the most common primary malignant ocular tumor in human adults. Relevant mouse models of human uveal melanoma still remain to be developed. We have studied the transgenic mouse strain, Tyrp-1-TAg, to try to gain insight into ...
Fourier Domain OCT proved to be an outstanding tool for measuring 3D retinal structures with high sensitivity, resolution, and speed. We extended the FDOCT concept towards functional imaging by analyzing the spectroscopic tissue properties, polarization co ...
For most retinal degeneration disorders, no efficient treatment exists to preserve photoreceptors (PRs) and, consequently, to maintain vision. Gene transfer appears to be a promising approach to prevent PR loss. In order to design adequate vectors to targe ...
Mice homozygous for the platinum (cp) allele at the albino locus manifest severe oculocutaneous albinism despite the presence in vitro of tyrosinase activity at 25% wild-type levels. We demonstrate that the cp allele results from an A-->T substitution, cha ...
