BACKGROUND RPE65 is specifically expressed in the retinal pigment epithelium and is essential for the recycling of 11-cis-retinal, the chromophore of rod and cone opsins. In humans, mutations in RPE65 lead to Leber congenital amaurosis or early-onset retinal dystrophy, a severe form of retinitis pigmentosa. The proof of feasibility of gene therapy for RPE65 deficiency has already been establish...

INTRODUCTION Extraocular muscle tenotomy has been reported to damp congenital nystagmus in an achiasmatic sheepdog. We performed extraocular muscle tenotomy to evaluate its effects on congenital nystagmus in primates. METHODS Magnetic search coil eye movement recordings were used to document the presence of horizontal congenital nystagmus in 2 adult macaque monkeys that also had naturally occ...

Case report: Congenital disfiguring malformations are rare and usually have a multifactorial aetiology. Here we report on the ocular manifestations seen in a patient with Proteus syndrome. The retina showed retinal dysgenesia, retinal pigmentary abnormalities and optic nerve hypoplasia. Other abnormalities included strabismus and high myopia. Discussion: Proteus syndrome is a complex hamartomat...

The penetrance for colon polyps is close to 100% and bi-allelic MUTYH mutation carriers generally develop 10-100’s adenomatous polyps/adenomas of the colon and the rectum. Approximately one third of patients also develop polyps/adenomas in the upper gastrointestinal tract. Other manifestations frequently seen in Familial Adenomatous Polyposis (FAP) are also present in minority of MAP patients: ...

A retrospective study was made of 30 children with Leber's amaurosis (congenital retinal blindness). 24 presented with severe visual impairment, typical ophalmological findings, and absent electroretinograms. 6 other children, though presenting with marked visual loss and absent electroetinograms were later shown to be less severely affected. Some of the more severely affected children had asso...

Melanotic neuroectodermal tumor of infancy (MNETI) is also known as pigmented neuroectodermal tumor of infancy, melanotic prognoma, retinal anlage tumor, pigmented epulis of infancy and congenital melanocarcinoma. It is a rare neoplasm, occuring primarily in maxilla and mandible of infants. Till 1990 about 200 cases had been recorded in world literature(l,2). We report a case with this entity.

Acrodermatitis enteropathica is the clinical expression of congenital zinc deficiency and is now treated with supplemental zinc. This report details the ocular histopathology of a child who died before efficacious treatment was available. The findings include corneal epithelial thinning and loss of polarity, anterior corneal scarring and loss of Bowman's membrane, cataract formation, ciliary bo...

We describe a case of maculopathy consisting of macular retinoschisis and serous macular detachment occurring in a patient with an acquired enlarged optic disc cup, similar to the maculopathy observed in congenital optic nerve abnormalities, mainly optic nerve pits and colobomas, without vitreomacular traction nor angiographic leak. Pars plana vitrectomy with argon laser endophotocoagulation an...

A 7-year-old Japanese girl displayed multiple, variably sized, sharply circumscribed, placoid, white lesions in both eyes, with no additional symptoms. The appearance of these lesions was consistent with congenital grouped albinotic spots of the retina. Fundus autofluorescence imaging showed clearly-defined abnormal autofluorescence, corresponding to these albinotic spots. The outer retinal lay...

ACANTHOCYTOSIS, a congenital anomaly of the erythrocyte surface membranes with thorny protuberances due to a defect of beta-lipoproteins (Singer, Fisher, and Perlstein, 1952; Jampel and Falls, 1958; Mier, Schwartz, and Boshes, 1960; Druez, Lamy, Frezal, Polonovski, and Rey, 1961) has been described in association with atypical retinitis pigmentosa (Bassen and Kornzweig, 1950) and has also been ...