Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
OBJECTIVE Joubert syndrome (JS) is caused by mutations in> 34 genes that encode proteins involved with primary (nonmotile) cilia and ciliary basal bodies. This study describes the eye phenotype JS vary in patients with systemic findings and genotype correlation.
METHOD Patients systematically and prospectively examined at the National Institutes of Health (NIH) Clinical Center in a clinical trial setting special natural history.
METHOD Ninety-nine patients with JS examined at the center.
METHOD All patients underwent genotyping for JS, followed by age-appropriate complete eye examination at the NIH Clinical Center, including visual acuity (VA), the behavior of fixation, the position of the lid, the assessment of motility, biomicroscopy slit-lamp, fundus examination widened with an ophthalmoscope directly, and retinoscopy. Color and fundus autofluorescence imaging, wide-field photography Optos (Dunfermline, Scotland, UK), and electroretinography (ERG) is performed whenever possible.
METHOD The VA (with longitudinal follow-up if possible), ptosis, extraocular muscle function, the status of retina and optic nerve and retinal function measured by ERG.
RESULTS Among patients with JS with quantitative VA (68/99), the value ranges between 0 logarithm of the minimum angle of resolution (logMAR) (Snellen 20/20) to 1.5 logMAR (Snellen 20/632). Strabismus (71/98), nystagmus (66/99), oculomotor apraxia (60/77), ptosis (30/98), coloboma (28/99), degeneration of the retina (20/83), and optic nerve atrophy (8 / 86) were identified.
CONCLUSION We recommend routine monitoring for ophthalmologic manifestations of JS begins soon after birth or diagnosis. We were shown visual developmental delay and notes that the timeframe amblyogenic may take significantly longer than typical JS. In general, patients with coloboma less likely to show the degeneration of the retina, and people with retinal degeneration has no coloboma.
Severe retinal degeneration that early and aggressive seen in diseases caused by certain genes, such as CEP290- and related AHI1 JS. Retinal degeneration in INPP5E-, MKS1- and related NPHP1 JS generally lighter. Finally, ptosis surgery can help in the subset of patients with JS; decisions on time and benefit / risk ratio should be made on an individual basis according to the expert consultation.
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
rapid seedling establishment and root inscription narrow puddle promote tolerance in spring wheat.
Improving waterlogging tolerance of wheat varieties could alleviate constraints in yield caused by excessive rainfall and poor soil drainage. In this study, we investigate the root and shoot growth and anatomical properties of six spring wheat genotypes with contrasting waterlogging tolerance. Our goal is to identify the characteristics distinguishing tolerant roots of the sensitive genotype.
Two experiments were performed using rhizoboxes and photography for data acquisition. In one experiment, the root growth genotypes studied during seed formation and subsequent waterlogging treatment, starting at the 3-leaf stage and maintained for seven days. In a second experiment, the root and shoot growth of plants that were previously submerged in water compared between the genotypes during the seven days of recovery.
In two experiments harvest, root segments were sampled to investigate the differences in the genotype of the root of cross-sectional area, the area of the root cortex, the area of the inscription and the percentage of aerenchyma. The results indicate that tolerance, in contrast to the sensitive genotype, seminal roots develop more quickly in the phase formation of seedlings and nodal roots during treatment puddles. NK93602 and Bjarne genotype best performance.
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