Infantile glaucoma in Down's syndrome (trisomy 21)
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Biomedical subjects
Publications and source records attributed to T Jerndal.
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The aim was to elucidate whether goniodysgenesis is more frequently observed in elderly patients with glaucoma, and furthermore, which signs of goniodysgenesis are of importance and most unanimously detected. Thus, 3 examiners evaluated 21 glaucoma patients and 19 non-glaucoma patients in a masked fashion. None of the patients had a first-degree heredity. Gonioscopy, slit-lamp examination and measurements of the corneal and pupillary diameter were performed, in all 26 variables. Significantly (P less than 0.05) more frequent in glaucoma were an increased corneal diameter, scleral overriding, hypoplasia of the pupillary seam, abnormal Schwalbe's line and an opaque pretrabecular membrane (one examiner). Less frequent were a peripupillary yellow pigment ring and pigment stars on the lens. Inter-observer variation was small regarding e.g. corneal diameter but rather large regarding e.g. the pretrabecular membrane.
Exfoliation of devitalized tissue and pigment from the neuroepithelium of the uveal tract constitute the earliest stage of the exfoliation syndrome according to a biomicroscopic study. With an immuno-histochemical technique exfoliative material from lenses with the classic exfoliation syndrome, demonstrated the same staining characteristics as the pigmentary epithelium of the uvea.
Three typical pedigrees with hereditary glaucoma are presented, in which dominant goniodysgenesis is shown to be the actual genetic trait. Because of a marked variation in the expressivity of dysgenesis, the symptoms of the genetic malformation (elevated intraocular pressure and subsequent glaucoma) may appear early or late in life. Therefore, there is no justification in letting the patient's age at the onset of the symptoms decide the classification or the mode of inheritance of the glaucoma (infantile, juvenile, simple), when the common etiologic factor is a dominant dysgenic trait. Consequently, the term "congenital glaucoma" is inadequate and even misleading for glaucoma caused by an inborn malformation, but which may be manifested only after several years or even decades. Instead a new term "dysgenic glaucoma" is suggested as the logical term that also indicates the etiology.
281 eyes out of 330 were followed during 3 to 5 1/2 years after trabeculectomy. 32 eyes were drop-outs due to death and 17 eyes due to inability to participate in the examination program. The mean age at time of surgery was 66 years. A mean pre-operative IOP of 31 mmHg dropped to a mean post-operative level of 18 mmHg. In 57% a single trabeculectomy was considered enough to control the glaucoma. Post-operative medical treatment was considered necessary in 35%. In 87% the pre-operative progress of the field defect was arrested. A reoperation was performed in 8%. The early complications were very few, but in 25% slowly developing cataract was observed. A cataract extraction was performed in 29 eyes post trabeculectomiam with a favourable visual outcome. This study confirms the opinion that trabeculectomy is an atraumatic and efficient surgical procedure and a necessary therapeutic measure when the tolerable combination of antiglaucoma drugs proves insufficient to control the glaucoma.
Oen angle glaucoma is known to be inherited, but detailed knowledge of the primary genetic factor and its mode of inheritance are lacking. By studying both the glaucomatous and non-glaucomatous members in afflicted pedigrees, it has been established that premorbid goniodysgenesis, inherited in an autosomal dominant mode, plays a decisive role for the eventual development of glaucoma. Goniodysgenesis has been documented not only in infantile congenital glaucoma but also in late congenital glaucoma (often misinterpreted as glaucoma simplex) and in families with pigmentary glaucoma and exfoliation glaucoma. In addition, there is evidence that goniodysgenesis is the morphological prerequisite of the high elevation of the IOP on provocation with topical steroids. The article contains a short survey of the literature and presents three families with intrafamilial variations of open angle glaucoma based on a dominant genetic trait, viz. goniodysgenesis.
The parents of six children with goniodysgenesis and hereditary infantile congenital glaucoma were tested with corticosteroid eye-drops. Their response on provocation demonstrated a clear trend: In five families one parent of each couple responded with a tensional rise of 9 mmHg or more, whereas the other parent responded with a rise of 9 mmHg or less. Of the six parents with the greater response, five had glaucoma in their ancestry and displayed a distinct goniodysgenesis. The findings support the previously presented view that hereditary infantile congenital glaucoma is caused by a dominant goniodysgenesis with varying expressively. The high corticosteroid response in the families of our study appears to be correlated to this goniodysgenesis. The inherited corticosteroid response is obviously not a specific genetic trait confined to families with simple glaucoma.
According to our material the exfoliation glaucoma can be regarded as the result of an interplay of at least two different pathologic conditions: a primary genetic goniodysgenesis creating a relative block to the outflow, and a probable vasculopathy in the iris. Subsequent degeneration of the iris will lead to a liberation of pigment and debris, i.e., the exfoliation syndrome, eventually causing obliteration of the outflow pathways.
In 1967 a new microsurgical procedure for glaucoma known as trabeculectomy was introduced. This method is reported to have few early complications and a good pressure-reducing effect. Our material presents the results of 330 consecutive trabeculectomies with a follow-up period of 1/2-3 years. The following items are discussed: IOP, visual acuity, visual fields, surgical complications, and need of re-operation and medical postoperative therapy. We conclude that trabeculectomy is a safe and efficient antiglaucoma operation, recommended as an attractive alternative to heavy medication.
In a combined trabeculectomy and cataract extraction procedure on 17 eyes of 16 patients, there was a 50% average decrease in intraocular pressure. Visual acuity improved in 14 eyes, remained unchanged in two eyes, and declined in one eye. The postoperative complications were few and appreciable in only two cases. According to our follow-up findings, the combined technique is no more traumatic than an ordinary cataract extraction.
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A double blind study of the effect of tranexamic acid (AMCA) on late hyphaema after cataract surgery is reported. A total of 244 patients were included in the study after strict selection. It was shown that the incidence of late hyphaema in the treated group was significantly lower at the 5% level than that in the placebo group. The conclusion is made that the fibrinolytic inhibitor tranexamic acid can be used therapeutically or prophylactically to decrease the risk for re-bleeding after ocular surgery.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.