Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

PURPOSE: To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia with astigmatism, familial exudative vitreoretinopathy (FEVR), and primary open-angle glaucoma (POAG). METHODS: Probands with CC, FEVR, and POAG were enrolled in three independent genetic eye studies in Tasmania. Genealogy confirmed these individuals were closely related and subsequent examination revealed 11 other family members with some or all of the associated disorders. RESULTS: Twelve individuals had CC thought to be of childhood onset, with one child demonstrating progressive lenticular opacification. One individual had severe retinal detachment while five others had dragged retinal vessels. Seven individuals had POAG. Seven individuals had myopia in at least one eye ≤-3 Diopters. DNA testing excluded mutations in myocilin, trabecular meshwork inducible glucocorticoid response (MYOC) and tetraspanin 12 (TSPAN12). Haplotype analysis excluded frizzled family receptor 4 (FZD4) and low density lipoprotein receptor-related protein 5 (LRP5), but only partly excluded EVR3. Multipoint linkage analysis revealed multiple chromosomal single-nucleotide polymorphisms (SNPs) of interest, but no statistically significant focal localization. CONCLUSIONS: This unusual clustering of ophthalmic diseases suggests a possible single genetic cause for an apparently new cataract syndrome. This family's clinical ocular features may reflect the interplay between retinal disease with lenticular changes and axial length in the development of myopia and glaucoma.

Description of X-linked megalocornea with identification of the gene locus.

We studied the clinical appearance and inheritance in five families with X-linked megalocornea. Affected male subjects had corneal diameters between 13.0 and 16.5 mm. Arcus juvenilis, mosaic corneal dystrophy, and cataracts were found only in adult affected male subjects. No carrier female abnormality was identified. The gene locus for the X-linked form is in the region Xq12-q26. This is near the locus described for Aarskog (facial-digital-genital) syndrome, Xq12-13.

How thick should a retina be? A comparative study of mammalian species with and without intraretinal vasculature.

In this study we describe a measurement method which closely approximates in vivo retinal thickness. Using this method we examined the laminar organisation of vascular and avascular retinae from placental and marsupial mammals. Thickness measurements on retinal wholemounts show that the avascular retinae of the placental guinea pig (140 microns) and the marsupial brushtail possum (170 microns) are thinner and show less centroperipheral taper than do the vascular retinae of placental cats (250 microns), rats (220 microns) and marsupial quolls (220 microns). In general, limitation in thickness of avascular retinae is borne by most retinal layers, but most particularly by the inner plexiform layer, the synaptic region farthest removed from the choroidal blood supply. Except for the absence of blood vessels, the histological organisation of the brushtail possum's retina resembles closely that of its fellow marsupial, the quoll's. In contrast, intraretinal organisation differs amongst the two avascular retinal species with the guinea pig displaying a much coarser photoreceptor grain.

Volatile flavor components of rice cakes.

Volatiles were obtained from commercially prepared and laboratory-prepared rice cakes using high-flow dynamic headspace isolation with Tenax trapping. Analysis was carried out by capillary GC/MS. More than 60 compounds were identified. Major volatiles included 1-hydroxy-2-propanone, furfuryl alcohol, 2, 5-dimethylpyrazine, 2-methylpyrazine, pyrazine, hexanal, furfural, pentanol, 3-hydroxy-2-butanone (acetoin), and ethyl-3, 6-dimethylpyrazine. Although not ideally applicable to a dry product, concentration/threshold ratios indicated that the compounds with a high probability of contributing to the aroma and flavor included 3-methylbutanal, dimethyl trisulfide, 2-ethyl-3,5-dimethylpyrazine, 4-vinylguaiacol, hexanal, (E,E)-2,4-decadienal, 2-methylbutanal, 2-acetyl-1-pyrroline, 1-octen-3-ol, and 1-octen-3-one.

Sorption of volatile flavor compounds by microcellular cereal starch.

Wheat starch based microcellular foam (MCF) forms of (dry) starch possess a significant percentage of micropores in the range of 5-14 A. The present study confirmed earlier preliminary studies that MCF starch (in a 0.25-1.0 mm diameter bead form) is effective in sorbing and lowering the headspace partial pressure of many volatile compounds in a manner similar (although less efficient) to that exhibited by other microcavity sorbants such as charcoal. It was found that the proportion of polar compounds sorbed was much greater than the proportion of nonpolar compounds. A major portion of the sorbed volatile compound was readily displaced from the MCF microcellular starch by the addition of water. These properties make this form of edible starch a potential useful carrier of flavor compounds for dried foods.

Analysis of Furaneol in tomato using dynamic headspace sampling with sodium sulfate.

High-flow dynamic headspace sampling with excess anhydrous sodium sulfate was found to be an effective method of isolating Furaneol from fresh tomatoes. Quantitative analysis was carried out by gas chromatography using maltol as internal standard. Furaneol was found in the highest concentrations (660-1100 ppb) in the summer crop of home-grown tomatoes and in some of the greenhouse hydroponically grown tomatoes, which are ripened on the plant before being transported to the supermarkets. Furaneol was found in the lowest concentrations (38-180 ppb) in the common ethylene-ripened, field-grown, supermarket tomatoes.

Volatile components of green walnut husks.

Volatiles were isolated from whole green mature walnuts (Hartley variety) with husks still intact using dynamic headspace sweeping with trapping on Tenax. A total of 45 volatile compounds were identified by GC-MS. Major volatiles identified included (E)-4, 8-dimethyl-1,3,7-nonatriene, pinocarvone, pinocarveol, myrtenal, myrtenol, (E,E)-4,8,12-trimethyl-1,3,7,11-tridecatetraene, caryophyllene epoxide, verbenol, verbenone, and terpinolene. Green walnuts that had been infested with codling moth showed appreciably higher amounts emitted for (E)-4,8-dimethyl-1,3,7-nonatriene, (E, E)-4,8,12-trimethyl-1,3,7,11-tridecatetraene, alpha- and beta-pinenes, sabinene, (E)-beta-ocimene, (E,E)-alpha-farnesene, and linalool. The infested nuts also emitted benzyl methyl ether, isobutyl cyanide, and 1-nitro-3-methylbutane, compounds not found with the healthy nuts. Volatiles from uninfested green walnuts at the maturity stage where the husk was just beginning to split were also analyzed and compared.

[An analysis of treatment of intravitreal lens fragments following phacoemulsification].

OBJECTIVE: To observe and evaluate the outcome of vitrectomy in the treatment of dropped lens fragments. METHOD: Retrospectively the authors reviewed and analyzed 58 cases of dropped lens fragments that were treated with vitrectomy from October 1992 to October 1995 in Royal Victoria Eye and Ear Hospital, Melbourne, Australia and followed for at least 3 months. RESULTS: At the last follow-up, the remained complications were cystoid macular edema in three cases (5.2%), retinal detachment in two cases (3.4%) and hypotony in one case (1.7%). Other complications were all resolved. The final vision was significantly better than that before vitrectomy. There were 38 eyes (65.5%) with final visual acuities of 0.5 or better, and only 6 eyes (6.9%) with < 0.05. CONCLUSION: Once the lens fragments are dropped into the vitreous during phacoemulsification, the ocular anterior segment should be properly managed, if possible intraocular lens is inserted, and then vitrectomy should be performed as soon as possible. Generally, with the above method good therapeutic effects can be obtained.

Leber hereditary optic neuropathy in Australia.

Leber hereditary optic neuropathy (LHON) presents with sudden onset of visual loss mainly in young adult males. LHON is not uncommon in Australia, accounting for 2% of invalid blind pensions. We have identified 20 unrelated families carrying mitochondrial DNA mutations associated with LHON and 135 of 291 individuals with documented LHON are currently alive in Australia. The mean age of onset of visual loss for males was 26 years and for females 27 years, with a range from six to 65 years. The mean risk of visual loss was 20% for males and 4% for females. There are over 1750 male and female carriers living in Australia who have not yet lost vision; 600 carriers are under 24 years of age. The expected number of new cases of blindness from LHON is three to four per year.

Electroantennogram response of alfalfa seed chalcid,Bruchophagus roddi (Hymenoptera: Eurytomidae) to host- and nonhost-plant volatiles.

The alfalfa seed chalcid (ASC),Bruchophagus roddi, is a monophagous pest of alfalfa that parasitizes developing seeds. To further understand the olfactory basis of host-plant recognition by ASCs, we recorded electroantennograms (EAGs) from females and males to 39 volatiles from both alfalfa and red clover. The chemoreceptive sensitivity of ASCs was selective for certain general classes of compounds, defined by their carbon-chain length (C6 and C8), structure (aliphatics and phenolics), isomerism, and/or functional group (acetates, ketones, and alcohols). The compounds that elicited the largest EAGs were ranked as follows: (Z)-3-hexenyl acetate > hexyl acetate ≥ acetophenone ≥ octan-3-one ≥ methyl salicylate > octan-3-ol > oct-1-en-3-one > oct-1-en-3-ol ≥ (E)-ß-ocimene ≥ (Z)- and (E)-3-hexen-1-ols. Over half the test compounds elicited significantly different responses between the sexes, and female antennal responses exceeded those of males for twice the number of these volatiles. Relationships of the tested volatiles to host-plant composition, EAG responses, and ASC behaviors showed no consistent correlations. However, nearly all of the host-plant volatiles known to stimulate behavioral activity also elicited moderate to potent EAG responses.

Vascular and avascular retinae in mammals. A funduscopic and fluorescein angiographic study.

Intraretinal blood vessels are present in some and absent in other vertebrate species, including the mammals. Among the marsupials, both vascular and avascular retinae are seen. We determined the funduscopic appearance of the eye, investigated the functional aspects of ocular blood flow in both types of retina in marsupials and compared our results with known patterns in placental mammals. The Australian polyprotodont marsupials, the Tasmanian devil, Sarcophilus harrisii, and the quoll, Dasyurus viverrinus, together with an American polyprotodont, the Virginia opossum, Didelphis virginiana, demonstrate variable degrees of tapetal differentiation, pigmentation and a very close parallel course of their intraretinal arteries and veins over considerable distances. Using the technique of fluorescein angiography, we found that retinal blood flow in the 3 vascular Australian species commenced with arterial filling. Early venous was seen next, followed by the capillary blush. This unusual sequence of vascular flow differs from that of the arterial-capillary-venous filling seen in placental mammals. This difference is most likely a consequence of the known looped, end artery organisation found within marsupial nervous systems, of which the retinae are a part. The 2 diprotodont marsupials examined, the brushtail possum, Trichosurus vulpecula, and the sugar glider, Petaurus breviceps, possess avascular retinae. Only a small residual tuft of fluorescein-impermeable vessels projects from the optic disc into the vitreous. Interestingly, the structural complexity of the central visual system in diprotodonts all of whom possess avascular retinae) is commonly accepted as being greater than that of the stem polyprotodont line (which possess vascular retinae). If retinal function matches this internal complexity, then retinal avascularity may, as in birds, be associated with superior vision. However, as the retinae of these mammals clearly lack any nutritive mechanisms directly analogous to those in the retinae of, say, birds or the megachiropteran bats, their retinal nutritive pathways remain enigmatic.

A pear-derived kairomone with pheromonal potency that attracts male and female codling moth, Cydia pomonella (L.).

Ethyl (2E, 4Z)-2,4-decadienoate, a pear-derived volatile, is a species-specific, durable, and highly potent attractant to the codling moth (CM), Cydia pomonella (L.), a serious pest of walnuts, apples, and pears worldwide. This kairomone attracts both CM males and virgin and mated females. It is highly attractive to CM in both walnut and apple orchard contexts, but has shown limited effectiveness in a pear orchard context. Rubber septa lures loaded with ethyl (2E, 4Z)-2,4-decadienoate remained attractive for several months under field conditions. At the same low microgram load rates on septa, the combined gender capture of CM in kairomone-baited traps was similar to the capture rate of males in traps baited with codlemone, the major sex pheromone component. The particular attribute of attracting CM females renders this kairomone a novel tool for monitoring population flight and mating-ovipositional status, and potentially a major new weapon for directly controlling CM populations.