@article {530, title = {Evidence of macular pigment in the central macula in albinism.}, journal = {Exp Eye Res}, volume = {145}, year = {2016}, month = {2016 04}, pages = {468-471}, abstract = {

PURPOSE: Albinism represents a spectrum of disorders with diminished to absent amounts of melanin pigmentation including the posterior segment of the eye. Macular pigment (MP) consists of two main carotenoids, lutein and zeaxanthin, concentrated in the macula. MP serves as blue light absorbent, antioxidant, and may reduce chromatic aberration and glare. It remains unclear if albinos have detectable MP. The purpose was to investigate the distribution of MP in albino patients with psychophysical and imaging techniques.

METHODS: MP was measured at the eccentricity of 0.5{\textdegree} by heterochromatic flicker perimetry (QuantifEye({\textregistered}); Tinsley Precision Instruments Ltd.) or by scanning laser ophthalmoscopy (MPOD module, MultiColor Spectralis({\textregistered}), Heidelberg Engineering, Heidelberg, Germany) in four albino patients, who were also investigated with multimodal ophthalmic imaging.

RESULTS: Visual acuity ranged from 20/32 to 20/125, nystagmus was present in three patients, and all patients showed typical foveal hypoplasia on fundus exam and optical coherence tomography. Fundus autofluorescence (FAF) demonstrated various degrees of central FAF signal attenuation. Genetic testing was available in three patients and confirmed the diagnosis. Measurable amounts of MP were detected in all four patients and ranged from 0.05 to 0.24, which is below the normal range.

CONCLUSIONS: We conclude that MP can be demonstrated and measured in albinos. Further studies are needed to investigate MP accumulation following carotenoid supplementation and its impact on visual performance.

}, keywords = {Adult, Aged, Albinism, Ocular, Fluorescein Angiography, Humans, Macula Lutea, Macular Pigment, Male, Middle Aged, Tomography, Optical Coherence, Visual Acuity, Visual Field Tests, Visual Fields}, issn = {1096-0007}, doi = {10.1016/j.exer.2015.10.006}, author = {Wolfson, Yulia and Fletcher, Emily and Strauss, Rupert W and Scholl, Hendrik P N} } @article {106, title = {Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).}, journal = {PLoS One}, volume = {10}, year = {2015}, month = {2015}, pages = {e0143846}, abstract = {

UNLABELLED: Restoring vision in inherited retinal degenerations remains an unmet medical need. In mice exhibiting a genetically engineered block of the visual cycle, vision was recently successfully restored by oral administration of 9-cis-retinyl acetate (QLT091001). Safety and visual outcomes of a once-daily oral dose of 40 mg/m2/day QLT091001 for 7 consecutive days was investigated in an international, multi-center, open-label, proof-of-concept study in 18 patients with RPE65- or LRAT-related retinitis pigmentosa. Eight of 18 patients (44\%) showed a >=20\% increase and 4 of 18 (22\%) showed a >=40\% increase in functional retinal area determined from Goldmann visual fields; 12 (67\%) and 5 (28\%) of 18 patients showed a >=5 and >=10 ETDRS letter score increase of visual acuity, respectively, in one or both eyes at two or more visits within 2 months of treatment. In two patients who underwent fMRI, a significant positive response was measured to stimuli of medium contrast, moving, pattern targets in both left and right hemispheres of the occipital cortex. There were no serious adverse events. Treatment-related adverse events were transient and the most common included headache, photophobia, nausea, vomiting, and minor biochemical abnormalities. Measuring the outer segment length of the photoreceptor layer with high-definition optical coherence tomography was highly predictive of treatment responses with responders having a significantly larger baseline outer segment thickness (11.7 {\textpm} 4.8 μm, mean {\textpm} 95\% CI) than non-responders (3.5 {\textpm} 1.2 μm). This structure-function relationship suggests that treatment with QLT091001 is more likely to be efficacious if there is sufficient photoreceptor integrity.

TRIAL REGISTRATION: ClinicalTrials.gov NCT01014052.

}, keywords = {Acyltransferases, Administration, Oral, Adult, Anticarcinogenic Agents, Cerebral Cortex, Child, cis-trans-Isomerases, Drug Dosage Calculations, Female, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Radiography, Retinal Ganglion Cells, Retinal Neurons, Retinitis Pigmentosa, Treatment Outcome, Visual Acuity, Visual Fields, Vitamin A, Young Adult}, issn = {1932-6203}, doi = {10.1371/journal.pone.0143846}, author = {Scholl, Hendrik P N and Moore, Anthony T and Koenekoop, Robert K and Wen, Yuquan and Fishman, Gerald A and van den Born, L Ingeborgh and Bittner, Ava and Bowles, Kristen and Fletcher, Emily C and Collison, Frederick T and Dagnelie, Gislin and Degli Eposti, Simona and Michaelides, Michel and Saperstein, David A and Schuchard, Ronald A and Barnes, Claire and Zein, Wadih and Zobor, Ditta and Birch, David G and Mendola, Janine D and Zrenner, Eberhart} }