Assessment of intraocular pressure during fractionated peribulbar anaesthesia.
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Anesthesia, Local↗
Biomedical subjects
R M Redmond
Publications and source records attributed to R M Redmond.
Lacrimal gland hemangiopericytoma.
PURPOSE/METHODS: A 49-year-old woman with a left orbital mass was referred to an orbital clinic. Clinical investigation suggested a lacrimal gland lesion and the patient underwent lateral orbitotomy and excisional biopsy for a suspected pleomorphic adenoma in the lacrimal gland. RESULTS/CONCLUSION: Histopathologic evaluation disclosed a hemangiopericytoma originating within the lacrimal gland. Although hemangiopericytoma does not usually occur in this location, it may be added to the differential diagnosis of lacrimal gland enlargement.
Female↗
The molecular biology of Norrie's disease.
The Norrie's disease gene has been accurately located on the short arm of the X chromosome. The methodology underlying this achievement and the structure of the three-exon gene is described in this review article. The clinical implications of these recent advances are discussed. Allelic variants of Norrie's disease and the phenomenon of females affected by X-linked disease are also discussed.
Chromosome Deletion↗
Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci.
Three families with retinitis pigmentosa (RP) are described in which the disorder shows apparent X linked inheritance but does not show linkage to the RP2 and RP3 regions of the short arm of the X chromosome. The families are also inconsistent with a localisation of the disease gene between DXS164 and DXS28. In one case, reassessment of the family in the light of these results suggested that the family may have an autosomal dominant form of RP. The remaining two families are consistent with X linkage and suggest the possibility of a new X linked RP (XLRP) locus. These families highlight the difficulties in determining the mode of inheritance on the basis of pedigree structure and clinical data alone. Molecular genetics plays an important role in confirming the mode of inheritance and in detecting potential misclassifications, particularly in a group of disorders as heterogeneous as RP. They emphasise that caution is required in genetic counselling of RP families, particularly in the absence of any molecular genetic analysis.
Adult↗
In-utero diagnosis of Norrie disease by ultrasonography.
Obstetric ultrasonography of an obligate Norrie disease carrier revealed bilateral retinal detachments in a third trimester male fetus. Postnatal examination confirmed the diagnosis of Norrie disease. DNA linkage analysis with the markers L1.28 and MAO had been uninformative for this family. This report suggests that retinal detachment occurs late in the gestation of the affected fetus.
Chromosome Mapping↗
Long-term survival of endothelium following transplantation of corneas stored by organ culture.
This study reports corneal graft survival, endothelial cell changes, and visual outcome in 20 patients who received some of the first corneas stored by organ culture in the Corneal Transplant Service Eye Bank in Bristol. Mean donor age was 48 years (SD 15, n = 20) and corneas were stored for an average of 21 days (SD 7, n = 20). Preoperative endothelial cell density was 2334 cells/mm2 (SD 235, n = 18) and this fell by 8% (SD 12) to 2158 cells/mm2 (SD 372) within the first 2 months following transplantation. In 13 patients, endothelial cell density thereafter declined exponentially with a half-life of 41 months (SD 17, n = 12; one patient excluded as an outlier). Corneas that suffered rejection episodes showed the highest rates of loss of endothelial cells. Endothelial cell loss 4 years after transplantation was 46% (SD 16, n = 12), which was similar to the postoperative decline in cell density reported for corneas stored for far shorter periods in McCarey-Kaufman medium at 4 degrees C.
Adult↗
Prenatal exclusion of Norrie's disease.
We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.
Blindness↗
X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28.
A Northern Ireland family is reported on, in which there is X-linked inheritance of clinical anophthalmos. Multi-point linkage analysis suggests that the gene is localized to the Xq27-28 region (Z = 1.9, Theta = 0.08), though not between the DNA markers DX13 and Factor VIII.
Anophthalmos↗
DNA analysis and recombination in X-linked retinitis pigmentosa.
X-linked retinitis pigmentosa is a hereditary retinal degenerative disorder which has been localised to the proximal short arm of the X chromosome. Recent evidence suggests that the disorder is heterogeneous with two possible loci for the disease mutation. DNA analysis on the family presented in this paper showed that the mutation mapped to the more telomeric locus (RP3), thus enabling two flanking polymorphic DNA probes (XJ1.1 and M27 beta) to be used for the detection of female carriers in the family. In none of the carriers was a tapetal reflex (metallic sheen) observed.
Adult↗
Extracapsular cataract extraction under local anaesthesia without retrobulbar injection.
Day-case cataract surgery and the need for local anaesthesia are likely to increase. Retrobulbar (and peribulbar) anaesthetic injection is a common technique in cataract surgery, but serious complications are persistently reported. Subconjunctival injection is an alternative that avoids these risks. This retrospective study compares two groups of patients that underwent extracapsular cataract surgery under local anaesthetic. One group (retrobulbar) had uncomplicated retrobulbar injection with bupivicaine and hyaluronidase. The other group (non-retrobulbar) had superior bulbar, subconjunctival infiltration with bupivicaine and hyaluronidase. The operative complications and postoperative visual outcomes were similar in both groups. These results may encourage the investigation and adoption of the subconjunctival alternative to retrobulbar anaesthetic injection in cataract surgery.
Aged↗