Retinal dystrophies cause severe visual impairment due to the death of photoreceptor and retinal pigment epithelium cells. These diseases until recently have been considered to be incurable. In the last two decades genetic studies have shed light on the molecular causes of several of these diseases, which has opened new avenues to develop therapeutic approaches. The mammalian eye has been at th...

Multimodal Imaging of... Klin Monatsbl Augenheilkd hamartoma or the splenic hamartoma. The exact incidence of retinal astrocytic hamartoma (RAH) is not well known, but it is estimated at one case per 100000 births per year [1]. The astrocytic hamartoma is a neuroglial tissue and produces astrocytes within the optic nerve [2], and consequently it often appears within papillary region. Congenital...

A CONGENITAL vascular anomaly in which one of the main branches of the central retinal artery forms a pre-retinal loop at the optic disc before being distributed in the normal manner has been described by several authors (Liebreich, 1871; Leber, 1915; Bisland, 1953). The condition is usually first noticed on routine examination of an otherwise normal fundus, and remains symptomless throughout l...

Congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) is a rare tumor speculated to arise from the retinal pigment epithelium (RPE). A case of CSHRPE is presented herein along with the related literature. A healthy 20-year-old Middle-Eastern man was evaluated for an asymptomatic retinal lesion found on routine examination of his left eye. Fluorescein angiogram, spectral domain ...

We report a case of healthy sixteen year old girl who presented with left eye defective vision with a Snellen best corrected visual acuity of 6/36. Although the anterior segment was normal, a black retinal lesion at the fovea was detected by fundus examination. The right eye had 6/6 vision and fundus examination was normal. In the left eye the fundus fluorescein angiography features and spectra...

Background: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins affects the determination of cell polarity, orientation, and morphogenesis of photoreceptors. Here, we report three novel pathogenic varia...

Several groups have reported the results of clinical trials of gene augmentation therapy for Leber congenital amaurosis (LCA) because of mutations in the RPE65 gene. These studies have used subretinal injection of adeno-associated virus (AAV) vectors to deliver the human RPE65 cDNA to the retinal pigment epithelial (RPE) cells of the treated eyes. In all of the studies reported to date, this ap...

Naturally occurring and laboratory generated animal models serve as powerful tools with which to investigate the etiology of human retinal degenerations, especially retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone dystrophies (CD) and macular degeneration (MD). Much progress has been made in elucidating gene defects underlying disease, in understanding mechanisms leading to dis...

Citation: Ripamonti C, Henning GB, Ali RR, et al. Nature of the visual loss in observers with Leber’s congenital amaurosis caused by specific mutations in RPE65. Invest Ophthalmol Vis Sci. 2014;55:6817–6828. DOI: 10.1167/iovs.14-14923 PURPOSE. To characterize visual losses associated with genetic mutations in the RPE65 gene that cause defects in the RPE-specific isomerase, RPE65. RPE65 is an im...