Search

Abstract Background Multiple congenital ocular anomalies (MCOA) syndrome is a hereditary congenital eye defect that was first described in Silver colored Rocky Mountain horses. The mutation causing this disease is located within a defined chromosomal interval, which also contains the gene and mutation that is associated with the Silver coat color (PMEL17, exon 11). Horses that are homozygous for the disease-causing allele have multiple defects (MCOA-phenotype), whilst the heterozygous horses predominantly have cysts of the iris, ciliary body or retina (Cyst-phenotype). It has been argued that these ocular defects are caused by a recent mutation that is restricted to horses that are related to the Rocky Mountain Horse breed. For that reason we have examined another horse breed, the Icelandic horse, which is historically quite divergent from Rocky Mountain horses. Results We examined 24 Icelandic horses and established that the MCOA syndrome is present in this breed. Four of these horses were categorised as having the MCOA-phenotype and were genotyped as being homozygous for the PMEL17 mutation. The most common clinical signs included megaloglobus, iris stromal hypoplasia, abnormal pectinate ligaments, iridociliary cysts occasionally extending into the peripheral retina and cataracts. The cysts and pectinate ligament abnormalities were observed in the temporal quadrant of the eyes. Fourteen horses were heterozygous for the PMEL17 mutation and were characterized as having the Cyst-phenotype with cysts and occasionally curvilinear streaks in the peripheral retina. Three additional horses were genotyped as PMEL17 heterozygotes, but in these horses we were unable to detect cysts or other forms of anomalies. One eye of a severely vision-impaired 18 month-old stallion, homozygous for the PMEL17 mutation was examined by light microscopy. Redundant duplication of non-pigmented ciliary body epithelium, sometimes forming cysts bulging into the posterior chamber and localized areas of atrophy in the peripheral retina were seen. Conclusions The MCOA syndrome is segregating with the PMEL17 mutation in the Icelandic Horse population. This needs to be taken into consideration in breeding decisions and highlights the fact that MCOA syndrome is present in a breed that are more ancient and not closely related to the Rocky Mountain Horse breed.

Abstract Background We have recorded responses from single neurons in murine visual cortex to determine the effectiveness of the input from the two murine cone photoreceptor mechanisms and whether there is any unique selectivity for cone inputs at this higher region of the visual system that would support the possibility of colour vision in mice. Each eye was stimulated by diffuse light, either 370 (strong stimulus for the ultra-violet (UV) cone opsin) or 505 nm (exclusively stimulating the middle wavelength sensitive (M) cone opsin), obtained from light emitting diodes (LEDs) in the presence of a strong adapting light that suppressed the responses of rods. Results Single cells responded to these diffuse stimuli in all areas of striate cortex. Two types of responsive cells were encountered. One type (135/323 – 42%) had little to no spontaneous activity and responded at either the on and/or the off phase of the light stimulus with a few impulses often of relatively large amplitude. A second type (166/323 – 51%) had spontaneous activity and responded tonically to light stimuli with impulses often of small amplitude. Most of the cells responded similarly to both spectral stimuli. A few (18/323 – 6%) responded strongly or exclusively to one or the other spectral stimulus and rarely in a spectrally opponent manner. Conclusion Most cells in murine striate cortex receive excitatory inputs from both UV- and M-cones. A small fraction shows either strong selectivity for one or the other cone mechanism and occasionally cone opponent responses. Cells that could underlie chromatic contrast detection are present but extremely rare in murine striate cortex.

Objective: Our aim was to generate baseline optical coherence tomography (OCT) measurements of retinal thickness in female Beagles and to determine how these are affected by meridian, eccentricity, and age. Methods: Twenty‐three female Beagles, including six puppies (<6 months old), six mature (1.8‐8.2 years old), and 11 elderly dogs (>11 years old) were studied. Both retinas of each dog were scanned (in 4 principal meridians) using the Heidelberg Spectralis following ophthalmic examination, refraction, and sedation. In each eye and each meridian, total retinal, outer retinal, and nerve fiber layer (NFL) thickness were measured from the disc rim up to 6 mm peripherally. Results: The canine retina is thickest dorsally and thinnest ventrally. Total retinal, outer retinal, and NFL thickness decrease progressively and significantly as a function of eccentricity. The greatest eccentricity‐dependent thinning occurs dorsally. This thinning is due mostly to NFL tapering, while the eccentricity‐dependent change in outer retinal thickness is more moderate, especially in the lateral meridian, possibly due to the presence of the visual streak. The retina is thickest in puppies, but there were no significant differences between mature and elderly dogs. Conclusions: Our results provide normative values for total, outer, and inner retinal thickness in female dogs and may facilitate OCT use in the diagnosis of canine glaucoma and inherited retinopathies. [ABSTRACT FROM AUTHOR]

Objective: To investigate age‐associated changes of flash visual evoked potentials (FVEPs) in sedated horses. Animal studied: Twenty‐eight clinically healthy Standardbred Warmblooded trotters, aged 36 hours to 28 years. Procedures: Light‐adapted FVEPs and FERGs were recorded (An‐vision RETIport, Roland‐consult, Germany) in response to flash stimuli. Sedation was obtained using alpha‐2‐agonists intravenously. Akinesia of the eyelids was induced and pupils were dilated. Results: Reproducible FVEPs and FERGs were readily recorded from all foals and horses. The FVEP waveform included up to four positive components (P1‐P5) and two negative components (N1 and N2) and FVEP waveform morphology was similar across all age groups. Some differences in peak times and amplitudes associated with increasing age were observed. FVEP amplitudes recorded from newborn foals were well above the amplitudes observed in normal adult horses and FVEP peak times were somewhat shorter. In adult horses, a significant increase in P4 peak time and a gradual decrease in amplitudes, mainly for N2P4, were seen across the life‐span. Conclusions: The overall equine FVEP waveform was similar across the normal life‐span of the horse in our cross‐sectional study. We found that the visual system of the foal seems to be well developed already at birth. Furthermore, our results showed a decrease in amplitudes and increase in some peak times with increasing age. We recommend that age‐matched controls should be used when evaluating foals and young horses in clinical practice, whereas horses over the age of three years can be compared to other adult horses. [ABSTRACT FROM AUTHOR]

To study retinal function in cats homozygous and heterozygous for a recessively inherited rod-cone degeneration. Dark-adapted electroretinograms (ERGs) were performed on early affected, heterozygous (ophthalmoscopically normal), and clinically normal, nonrelated cats. Responses to blue stimuli over a 3.9-log unit range were recorded. Lower b-wave amplitudes than normal were observed in heterozygotes and early affected cats. The amplitudes of the heterozygotes took an intermediate position between normal and early affected cats. Normalized amplitude/intensity data suggest a normal dynamic range in carriers. B-wave implicit times in carriers were comparable to those of normal cats. These results show that heterozygotes have an altered retinal function, although they are ophthalmoscopically normal. It is difficult to electrophysiologically differentiate heterozygotes from affected cats with the very early stage of retinal degeneration. [ABSTRACT FROM AUTHOR]

Abstract Objective The aim of the study was to evaluate if tonometry and gonioscopy could serve as predictors of later glaucoma development in the English Springer Spaniel, a breed prone to developing primary glaucoma. Animals studied Gonioscopy was performed on 279 English Springer Spaniel dogs, 119 males and 160 females, with clinically normal eyes. In addition, 14 dogs, five males and nine females were examined for glaucoma. Results A positive relation between pectinate ligament dysplasia (PLD) and narrowing of the relative width of the ciliary cleft (RWOCC) and also between PLD, RWOCC and age was demonstrated. The prevalence of PLD was 25.5%, which is higher than in other breeds reported. A positive association was demonstrated between PLD and glaucoma, as well as between narrowing of the RWOCC and glaucoma. Glaucoma was not observed in dogs with normal appearance of the iridocorneal angle. English Springer Spaniels related to dogs with glaucoma show more narrowing of the RWOCC and more PLD than unrelated dogs. Conclusion This study demonstrates the positive association between PLD and glaucoma, between narrowing of the iridocorneal angle and glaucoma and the effect of age on the iridocorneal angle. Mating of dogs with normal iridocorneal angles appears to reduce the presence and degree of abnormal appearance of the iridocorneal angle in the offspring. However, breeding only dogs with normal iridocorneal angles without consideration of their relationship to dogs with glaucoma is not a guarantee for preventing glaucoma in the offspring. [ABSTRACT FROM AUTHOR]

Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome is a heritable eye disorder mainly affecting silver colored horses. Clinically, the disease manifests in two distinct classes depending on the horse genotype. Horses homozygous for the mutant allele present with a wide range of ocular defects, such as iris stromal hypoplasia, abnormal pectinate ligaments, megaloglobus, iridociliary cysts and cataracts. The phenotype of heterozygous horses is less severe and predominantly includes iridociliary cysts, which occasionally extend into the temporal retina. In order to determine the genetic cause of MCOA syndrome we sequenced the entire previously characterized 208 kilobase region on chromosome 6 in ten individuals; five MCOA affected horses from three different breeds, one horse with the intermediate Cyst phenotype and four unaffected controls from two different breeds. This was performed using Illumina TruSeq technology with paired-end reads. Through the systematic exclusion of all polymorphisms barring two SNPs in PMEL, a missense mutation previously reported to be associated with the silver coat colour and a non-conserved intronic SNP, we establish that this gene is responsible for MCOA syndrome. Our finding, together with recent advances that show aberrant protein function due to the coding mutation, suggests that the missense mutation is causative and has pleiotrophic effect, causing both the horse silver coat color and MCOA syndrome. [ABSTRACT FROM AUTHOR]

PURPOSE. The purpose of the study was to comparedifferent methods of photographic evaluation of cataract formation in ratsin response to different regimes of naphthalene treatment. Furthermore, weintended to study the relationship between cataract extension and biochemicalparameters. METHODS. Brown Norway rats were treated with 0.10–1.5 g naphthalene/kgbody weight, twice a week for ten weeks to induce cataract or placebo. Slitillumination and retroillumination (SI and RI) photographs were produced byan EAS-1000 instrument to document cataract formation as light-scatteringintensity. The degree of the cataractous changes was quantified in SI photographsby the peak height and the integrated peak area, and in RI photographs bythreshold setting. Finally, the lens concentration of Na[sup +] and K[sup +] and the protein composition were analyzed and correlated to the photographicanalysis. RESULTS. The degree of the cataractous changes was most linearly relatedto dose and duration when the integrated peak area was estimated. However,protein fractions were non-linearly related to the cataractous changes estimated.Alterations in concentration of Na[sup +] and K[sup +] were smallor insignificant, which indicate that naphthalene-induced cataract is notcaused by osmotic changes. The lowest possible naphthalene dose to inducecataractous changes was between 0.10 and 0.50 g/kg twice a week for ten weeks. CONCLUSIONS. 0.50 and 1.0 g naphthalene/kg twice a week appeared to beoptimal, because the rats in these groups were healthy and the cataractouschanges were consistent between animals. Thus, the combination of the animalmodel with the cataract quantification system has the potential to be usefuland reliable in studies of cataract-preventive compounds. [ABSTRACT FROM AUTHOR]