retinal degeneration/carbohydrate

Retinitis pigmentosa (RP) is an inherited neurodegenerative disease involving progressive vision loss, and is often linked to mutations in the rhodopsin gene. Mutations that abolish N-terminal glycosylation of rhodopsin (T4K and T17M) cause sector RP in which the inferior retina preferentially

A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, the CDG syndrome type I. This disease, an autosomal-recessive multisystem condition, has now been diagnosed in 45 Scandinavian patients. It is characterized by

OBJECTIVE To document the progression of clinical and electrophysiological abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome type Ia (CDGS Ia) over a period of 5 years. METHODS A 12-month-old male underwent clinical ophthalmic and electrophysiological examination at the

Several mutations in the N terminus of the G-protein-coupled receptor rhodopsin disrupt NXS/T consensus sequences for N-linked glycosylation (located at N2 and N15) and cause sector retinitis pigmentosa in which the inferior retina preferentially degenerates. Here we examined the role of rhodopsin

OBJECTIVE In the retinal disorder progressive rod-cone degeneration (prcd) in miniature poodle dogs, the photoreceptor layer degenerates slowly in the course of 5 to 7 years. Components of the interphotoreceptor matrix form a continuous extracellular lattice around photoreceptors. The purpose was to

Degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of lysosomal storage disorders, mitochondrial respiratory chain defects, carbohydrate glycosylation defects, and infantile neuroaxonal dystrophy. We studied eight individuals from two unrelated families

OBJECTIVE Mice rendered hypoglycemic by a null mutation in the glucagon receptor gene Gcgr display late-onset retinal degeneration and loss of retinal sensitivity. Acute hyperglycemia induced by dextrose ingestion does not restore their retinal function, which is consistent with irreversible loss of

The distribution of anionic (negatively charged) groups on the surface of retinal pigment epithelial cells (RPE), rod photoreceptor cells (RP) and discarded rod outer segments (R0S) was studied by labeling these groups with cationic ferritin (CF) at different pH values. In normal neonatal rats,

Retinal ischemia contributes to multiple ocular diseases while aminoguanidine (AMG) treatment significantly inhibits the neuronal and vascular degeneration due to acute retinal ischemia and reperfusion (I/R) injury. In the present study, 2-D DIGE was applied to profile global protein expression

Phagocytosis in the rat retina is a process which involves uptake of shed photoreceptor outer segments by the overlying retinal pigment epithelium (RPE). In rats with inherited retinal degeneration, there is a defect in phagocytosis. One aspect of this phagocytic defect may be an alteration in

The autosomal recessive retinal degeneration rod-cone dysplasia 1 (rcd1) affects Irish setter dogs during early postnatal development. The disease is the result of a cyclic guanosine monophosphate metabolic abnormality and morphological evidence of disease onset correlates with initiation of

Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and neuropathy. The metabolic defect is in N-linked

Batten disease or JNCL, is the juvenile form of Neuronal Ceroid Lipofuscinosis (NCL) an autosomal recessive neurodegenerative disorder. Since retinal degeneration is an early consequence of Batten disease, we examined the eyes of Cln3 knockout mice (1-20 months of age), along with heterozygotes and

BACKGROUND The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). METHODS We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome.

Retinal degeneration is an early feature of diabetic retinopathy, the major cause of blindness in the developed world. Here we investigated how the widely used antidiabetic drug metformin reduces retinal injury in diabetic mice. Metformin was orally administered to control mice or mice with