The contributions of genetics research to the science of normal and defective color vision
over the previous few decades are reviewed emphasizing the developments in the 25years …

Age-related macular degeneration (AMD), the leading cause of blindness in the elderly, is a
complex disease to study because of the potential role of demographic, environmental, and …

We used two methods to estimate short-wave (S) cone spectral sensitivity. Firstly, we
measured S-cone thresholds centrally and peripherally in five trichromats, and in three blue …

Nothing in biology makes sense except in light of evo- pigments: four cone pigments, one
rhodopsin, and a lution. pineal visual pigment, pinopsin. As seen in the dendro-—T …

We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone
photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia …

Absorption of light by rhodopsin or cone pigments in photoreceptors triggers
photoisomerization of their universal chromophore, 11-cis-retinal, to all-trans-retinal. This …

The cone dystrophies comprise a heterogeneous group of disorders characterised by visual
loss, abnormalities of colour vision, central scotomata, and a variable degree of nystagmus …

The cone and cone–rod dystrophies form part of a heterogeneous group of retinal disorders
that are an important cause of visual impairment in children and adults. There have been …

The human retina is a uniquely accessible tissue. Tools like scanning laser ophthalmoscopy
and spectral domain-optical coherence tomography provide clinicians with remarkably clear …

▪ Abstract The past decade has witnessed extraordinary progress in retinal disease gene
identification, the analysis of animal and tissue culture models of disease processes, and the …