Retinitis pigmentosa type 45 (RP45) is an autosomal-recessively inherited blinding disease
caused by mutations in the cyclic nucleotide-gated channel subunit beta 1 (CNGB1) gene. In …

Achromatopsia (ACHM) is an autosomal recessive disease that results in severe visual loss.
Symptoms of ACHM include impaired visual acuity, nystagmus, and photoaversion starting …

Objective To report disease-causing mutations in the cyclic nucleotide-gated channel α 3
gene (CNGA3) identified by exome sequencing and bioinformatics filtering in a single …

Purpose: Congenital achromatopsia (ACHM) is an autosomal recessive disorder in which
cone function is absent or severely reduced. Gene therapy in animal models of ACHM have …

Gene therapy using recombinant adeno‐associated virus (rAAV) vectors to treat blinding
retinal dystrophies has become clinical reality. Therapeutically impactful targeting of …

Purpose.: Ciliary neurotrophic factor (CNTF) protects rod photoreceptors from retinal
degenerative disease in multiple nonhuman models. Thus far, CNTF has failed to …

Achromatopsia is an autosomal recessive disorder featuring total colour blindness,
photophobia, reduced visual acuity and nystagmus. While mutations in the CNGA3 gene on …

Sheep carrying a mutated CNGA3 gene exhibit diminished cone function and provide a
naturally occurring large animal model of achromatopsia. Subretinal injection of a vector …

Background To identify the causative variants of achromatopsia (ACHM) in four Pakistani
families presenting autosomal recessive ACHM. Methods Four families (50, 55, 70 and 74) …

Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia,
nystagmus, color blindness and severely reduced visual acuity. Currently mutations in five …