Retinitis Pigmentosa (RP) in the human is a progressive, currently irreversible neural
degenerative disease usually caused by gene defects that disrupt the function or …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

Cyclic nucleotide phosphodiesterases (PDEs) are enzymes that have the unique function of
terminating cyclic nucleotide signaling by catalyzing the hydrolysis of cAMP and GMP. They …

The term,'retinitis pigmentosa', refers to a heterogeneous group of inherited diseases that
cause degeneration of rod and cone photoreceptors in the human retina. Loss of …

Unequalled in scope, depth, and clinical precision, Retina, 5th Edition keeps you at the
forefront of today's new technologies, surgical approaches, and diagnostic and therapeutic …

Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …

Ophthalmological and molecular genetic studies were performed in a consanguineous
family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy …

Mutations affecting ciliary components cause a series of related genetic disorders in
humans, including nephronophthisis (NPHP), Joubert syndrome (JBTS), Meckel-Gruber …

The cellular mechanisms underlying hereditary photoreceptor degeneration are still poorly
understood, a problem that is exacerbated by the enormous genetic heterogeneity of this …

Retinal photoreceptor degeneration takes many forms. Mutations in rhodopsin genes or
disorders of the retinal pigment epithelium, defects in the adenosine triphosphate binding …