Due to improved phenotyping and genetic characterization, the field of 'incurable'and
'blinding'inherited retinal diseases (IRDs) has moved substantially forward. Decades of …

In the last few years there has been a veritable explosion of knowledge about cyclic
nucleotide phosphodiesterases. In particular, the accumulating data showing that there are …

We have found four mutations in the human gene encoding the β–subunit of rod cGMP
phosphodiesterase (PDE β) that cosegregate with autosomal recessive retinitis pigmentosa …

The domestic dog offers a unique opportunity to explore the genetic basis of disease,
morphology and behaviour. We share many diseases with our canine companions …

Recent progress in the field of cyclic nucleotidos has shown that a large array of closely
related proteins is involved in each step of the signal transduction cascade. Nine families of …

purpose. The objective of the present study was to evaluate the therapeutic efficacy of ciliary
neurotrophic factor (CNTF) delivered through encapsulated cells directly into the vitreous of …

Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the
death of photoreceptor and retinal pigment epithelium cells. These diseases until recently …

Mutations in the β subunit of the cGMP phosphodiesterase gene (βPDE) can cause a
recessively inherited retinal degeneration in several species, including mice, dogs and …

Mutations in the gene encoding the beta subunit of rod cGMP phosphodiesterase are known
causes of photoreceptor degeneration in two animal models of retinitis pigmentosa, the rd …

Patients with retinitis pigmentosa (RP) typically develop night blindness early in life due to
loss of rod photoreceptors. The remaining cone photoreceptors are the mainstay of their …