Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in β-tubulin 4B isotype-encoding (TUBB4B).

Martinique (West Indies) crinkled retinal pigment epitheliopathy: clinical description.

Purpose: To report a previously undescribed pattern of crinkled retinal pigment epithelium (RPE), observed in a family of black patients originating from Martinique, an island in the French West Indies.

Methods: Three generations were examined by visual acuity measurement and fundus photography. Autofluorescence photography, fluorescein and indocyanine green angiography, visual field testing, electrophysiology, and spectral domain optical coherence tomography were performed in certain patients.

Use of a combined slit-lamp SD-OCT to obtain anterior and posterior segment images in selected animal species.

Objective: To obtain images of anterior and posterior segments of the eye using a slit-lamp (SL)/spectral domain (SD) optical coherence tomography (OCT) integrated system designed for the human eye, in the cat, dog, minipig and monkey.

Animals Studied: One healthy adult monkey, one healthy adult minipig, one healthy adult dog, one healthy adult cat, and three cats and four dogs affected by corneal or retinal diseases.

Procedure: A SL SCAN-1 SD-OCT, which is a slit-lamp SL-D7 that contains an integrated OCT module and a fundus viewer, was used to generate OCT images (512-2048), while simultaneously taking 'en-face' slit-lamp images (efSL).

Cellular-resolution in vivo imaging of the feline retina using adaptive optics: preliminary results.

Purpose: To perform cellular-level in vivo imaging of the feline retina using an adaptive optics flood illumination fundus camera (AO FIFC) designed for the human eye.

Materials And Methods: Cellular-level images were obtained from three eyes of two normal sedated cats. Ocular aberrations were corrected using an AO system based on a 52-acuator electromagnetic deformable mirror and a 1024 lenslet Hartmann-Shack sensor (both Imagine Eyes, Orsay, France).

Ultrasound assessment of short-term ocular vascular effects of intravitreal injection of bevacizumab (Avastin(®) ) in neovascular age-related macular degeneration.

Purpose: Angiogenic inhibitors, alone or combined with other therapies, are believed to represent a promising treatment for neovascularization in age-related macular degeneration (wet AMD). They can maintain or improve visual acuity (VA), at least for the first 2years. However, evolution to retinal atrophy cannot be ruled out and it may be useful to assess the effects of antiangiogenic therapy on retinal and choroidal circulation.

A low-cost and simple imaging technique of the anterior and posterior segments: eye fundus, ciliary bodies, iridocorneal angle.

Purpose: The authors recently used topical endoscopy to image the mouse eye fundus. Here, they widened the field of application for this ophthalmologic tool, imaging both the posterior and the anterior eye segments in larger animals commonly encountered in research laboratories and veterinary clinics.

Methods: Pupils were dilated, and local anesthetic and gel were applied to the animal cornea.

Panretinal, high-resolution color photography of the mouse fundus.

Purpose: To analyze high-resolution color photographs of the mouse fundus.

Methods: A contact fundus camera based on topical endoscopy fundus imaging (TEFI) was built. Fundus photographs of C57 and Balb/c mice obtained by TEFI were qualitatively analyzed.

Comparing the photopic ERG i-wave in different species.

The i-wave, a post b-wave component of the human photopic electroretinogram (ERG), is claimed to originate at the level of the retinal ganglion cells (RGC) or more distally. We investigated whether this wave is a feature common to all species. Photopic ERGs were obtained from the following species: Beagle dog, European cat, New Zealand white rabbit, Göttingen minipig, Cynomolgus monkey, Sprague-Dawley and brown Norway rats, Hartley guinea pig, and CD1 and C57BL6 mice.

Filling-in phenomenon in patients with age-related macular degeneration: differences regarding uni- or bilaterality of central scotoma.

Purpose: The purpose of this study was to explore the presence of the filling-in phenomenon in patients with uni- or bilateral central scotoma (CS) resulting from natural history or laser photocoagulation of choroidal neovascularization in age-related macular degeneration (AMD).

Methods: Sixteen consecutive patients with unilateral CS and 14 patients with bilateral CS were assessed (44 eyes) with a scanning laser ophthalmoscope (SLO). Scotoma was delineated by scotometry with a point (1 degree x1 degree) moving radially from the periphery to the center of the lesion.