Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus.

The diagnosis of congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. The OMIM database (http://www.ncbi.nlm.nih.gov/Omim/) currently contains four familial CFEOM phenotypes: CFEOM1-3, which map to the FEOM1-3 loci (MIM 135600, 602078, 604361), respectively, and congenital fibrosis of the vertically acting extraocular muscles (MIM 600638), reported in a single family without a corresponding genotype. We have had the opportunity to study the reported family with this fourth phenotype and now demonstrate that their phenotype can be reclassified as CFEOM3 and that it maps to FEOM3, flanked by D16S498 to 16qter, with a maximum lod score of 6.0.

Clinical features at presentation of anterior segment pigment dispersion syndrome.

One hundred and twenty patients with anterior segment pigment dispersion syndrome were reviewed in order to ascertain the features of the condition and form some idea of their significance. Patients were regarded as having pigment dispersion syndrome on the basis of heavy trabecular mesh pigmentation with at least one other feature of the condition. Although common in men, 44 patients, or a little over one-third, were women. Average age at presentation was 47.8 years with women presenting 10 years later than men. Intraocular pressure was very variable at presentation being less than 20 mmHg in 23 patients. Some patients with elevated pressure had no field loss. Variable myopia was recorded in 38 patients: 30 patients were not myopic. Anterior chamber depth was also variable, the average being 3.0 mm, but six patients had a depth of 2.2 mm or less. The syndrome is extremely variable in its features at presentation. The mild hypoplasia and the hypoperfusion of the iris previously described is consistent with the laxity of the iris noted by Ritch and colleagues.

Management and prognosis of end-stage glaucoma.

PURPOSE: We followed, for a long term, end-stage glaucoma patients as defined by the level of legal blindness. METHODS: Follow up was for 7.7+/-1.8 years (range 2-9) for 22 patients (13 men and nine women) having 32 eyes with functional vision. Age at exit was 74.6+/-15.5 years (range 33-89). Humphrey computerized perimetry and applanation tonometry were used throughout. We attempted to hold intraocular pressure below 15 mmHg using as much medical therapy as required. RESULTS: All visual fields were less than 10 degrees diameter at exit, but at entry seven eyes of six patients still had a field between 10 degrees and 20 degrees, the rest were all less than 10 degrees. Corrected visual acuity at entry was 6/9 to 6/6 in 21 eyes of 6 patients and none had less than 6/60. At exit 16 eyes had 6/9 to 6/6 and five eyes had less than 6/60, but no patient had complete loss of vision. Mean intraocular pressure (IOP) throughout was below 15 mmHg in all but four patients, whose (IOP) were less than 20 mmHg, using multiple medications if necessary. All patients had undergone prior surgery and/or laser trabeculoplasty. CONCLUSIONS: Even though visual loss slowly progressed, most patients with end-stage glaucoma retained functional vision for a long period when intraocular pressure was held below 15 mmHg. More stringent early control of intraocular pressure may avoid the development of end-stage glaucoma.

Comparison of colour Doppler imaging of orbital vessels in elderly compared with young adult patients.

PURPOSE: Colour Doppler imaging provides an estimate of the velocity of blood flow in vessels supplying the eye. METHODS: To assess changes in orbital blood flow with age, we used a method to study peak systolic velocity in 20 young normal patients, mean age 25.2+/-2.4 years and 30 elderly normal patients, mean age 69.5+/-7.9 years. RESULTS: Peak systolic velocity was significantly higher in the central retinal artery and the temporal division of the posterior ciliary artery in elderly patients. There was greater variation in the peak systolic velocity readings in the distal part of the ophthalmic artery in the elderly than in the younger group. There was greater variation in the pulsatility index in the central retinal artery in young subjects. CONCLUSIONS: Though not large, these differences suggest changes in the orbital blood vessels with age which could affect the development of disease processes in elderly patients. These changes should be taken into account when assessing blood flow in elderly patients.

A trial of dorzolamide for glaucoma.

BACKGROUND AND OBJECTIVE: To determine whether the effectiveness of dorzolamide changes when the drug is used under routine clinical conditions versus the more ideal conditions of a clinical trial. PATIENTS AND METHODS: A total of 118 eyes of 65 patients were assessed. Nine patients (15 eyes) received dorzolamide only, 41 patients (74 eyes) received dorzolamide as an "add-on" medication, and 15 patients (29 eyes) received dorzolamide as a substitute for an oral carbonic anhydrase inhibitor. RESULTS: At 1 month the intraocular pressure (IOP) had decreased from 23.5 to 19.9 mm Hg in the patients receiving dorzolamide only, from 18.6 to 16.4 mm Hg in the patients receiving dorzolamide as an add-on medication, and from 17.7 to 16.0 mm Hg in the patients receiving dorzolamide as a substitute for an oral carbonic anhydrase inhibitor. Similar decreases in IOP were present at 3 and 6 months. Local drug reactions occurred in 3 patients. Five patients stopped treatment because of severe symptoms of nausea and prostration. CONCLUSION: Under routine clinical conditions, dorzolamide was effective as a sole medication and as an add-on medication. It was at least as effective as oral acetazolamide. Local drug reactions sometimes occurred, as did systemic reactions.

An in-service investigation of the additive effect of topical adrenergic agonists and beta-blockers.

BACKGROUND: We assessed the long-term additive effect of topical adrenaline or adrenaline precursor and beta-blockers because of doubts as to the presence and persistence of such an effect. METHODS: In 43 patents (20 males and 23 females; mean (+/- SD) age 68.4+/-11.5 years, range 24-84 years) on combined therapy for a mean 4.6+/-4.4 years (range 3 months to 17 years) for chronic open-angle glaucoma, the adrenaline or adrenaline precursor drop was stopped for 4 weeks in both eyes of 27 patients and in one eye of 6 patients. RESULTS: There was a mean rise in intra-ocular pressure (IOP) for the whole group from 17.5+/-4.0 to 18.7+/-4.9 mmHg (range 10-28 and 9-31 mmHg, respectively) on stopping adrenergic agonist drops. Three different responses were identified: (i) a rise in IOP > 2 mmHg (mean 5.8+/-3.2 mmHg; range 3-14 mmHg) in 20 eyes of 15 patients; (ii) no rise or fall > 2 mmHg in 43 eyes of 23 patients, with a mean rise of 0.2+/-1.1 mmHg; and (iii) a fall in IOP of > 2 mmHg (mean 5.6+/-3.2 mmHg; range 3-11 mmHg) in seven eyes of five patients. CONCLUSIONS: The effect of adrenergic agonist and beta-blocker drops is variable, but an additive effect may be strong and persistent n some eyes, suggesting considerable variation in the distribution and density of adrenoceptors in different eyes. Therefore, there may be some variation in the effect of new alpha2-adrenoceptor agonists, but such effects should be additive to those of beta-blockers.

Effect of lens opacity on the glaucomatous field of vision.

PURPOSE: To assess the effect of cataract on the glaucomatous visual field. METHODS: We prospective y assessed the visual field indices of mean deviation (MD), pattern standard deviation (PSD), short-term fluctuation (SF) and corrected pattern standard deviation (CPSD) before and after cataract extraction with posterior chamber intra-ocular lens in a consecutive series of 40 patients (51 eyes) age 75.0 +/- 6.0 years with varying degrees of field oss or suspect field loss. RESULTS: After cataract operation, statistical analysis showed a very significant fall in the absolute magnitude of MD and a significant rise n PSD. There was considerable individual variation in results. CONCLUSION: Taking these changes into account, the indices gave a good prediction of the glaucomatous field status following cataract operation, which itself results in some increase in the underlying field defect.

Noninvasive closure of a persistent cyclodialysis cleft.

BACKGROUND: A persistent post-traumatic cyclodialysis cleft can result in substantial visual loss due to subchoroidal effusion and macular folds with hypotony. A method of closure is needed. PATIENTS AND METHODS: After other methods had been tried, the authors used transscleral YAG laser cyclophotocoagulation in three consecutive patients with 20 applications in two rows of ten applications, 2 to 3 mm behind the limbus, at a power setting of 6 J, with a defocus setting of 9. RESULTS: The cleft was closed with restoration of normal intraocular pressure and recovery of visual function in all patients. CONCLUSION: Transscleral YAG laser cyclophotocoagulation is a simple, effective, noninvasive method of closing a persistent traumatic cyclodialysis cleft, which may make invasive surgical closure unnecessary.

Disorders of perfusion of the anterior segment of the eye.

BACKGROUND: We have investigated the vascular perfusion of a wide variety of conditions of the anterior segment using fluorescein angiography. METHODS: The conditions were classified and findings reported according to the system set out below. Patients underwent full ocular examination. Fluorescein angiography of the anterior segment was carried out when indicated to investigate iris atrophy and neovascularisation. Specular microscopy of the corneal endothelium was used to detect changes in this tissue. RESULTS: The hypoperfusion was variable in degree and accompanied by varying degrees of iris hypoplasia and atrophy with neovascularisation. The degree of neovascularisation depended upon its rapidity of development, the pre-existing state of vascular perfusion and the underlying pathological condition. CONCLUSIONS: Hypoperfusion with resultant ischaemia and neovascularisation is common in conditions of the anterior segment. An understanding of the changes is valuable in treating many conditions affecting the anterior segment. The changes observed may also occur elsewhere in the physical system and may be a significant part of the ageing process, either as scattered, disparate processes or as part of a general disease process.

A clinical trial of MK-507, Trusopt, for raised intraocular pressure--the Australian experience.

BACKGROUND: Since the introduction of carbonic anhydrase inhibitors, a topical preparation has been sought to avoid the complications of systemic medication while retaining the effect of lowering intraocular pressure. Recently, a topical carbonic anhydrase inhibitor, MK-507, has been found superior to others and introduced for multicentre clinical trial. PATIENTS AND METHODS: As part of an international multicentre trial, we compared MK-507 with beta blockers for one year in 20 patients with raised intraocular pressure, both as monotherapy and in combination. RESULTS: Twelve patients with a mean peak pressure of 31.9 +/- 6.8 mmHg (range, 22 to 49 mmHg) off all medication received MK-507. After two weeks, mean peak pressure was 24.7 +/- 6.1 mmHg (range, 14 to 41 mmHg)--a 22.6% fall in pressure. Six of these patients had a mean peak pressure of 27.8 +/- 6.4 mmHg (range, 21 to 41 mmHg), a fall of 19.2% from day one and were given timolol as add-on therapy. This resulted in a fall to 19.1 +/- 2.8 (range, 15 to 24 mmHg) at year one, a fall of 31.3% after add-on. Four patients on timolol and four on betaxolol gave similar falls in pressure with an additional fall when MK-507 was used as add-on therapy. CONCLUSIONS: MK-507 demonstrated its effectiveness as an ocular hypotensive agent in this trial of patients with an unusually high rise in pressure. It showed a hypotensive effect roughly equivalent to beta blockers. It is likely that either a topical carbonic anhydrase inhibitor or a cardioselective beta blocker will be the medication of first choice in newly diagnosed glaucoma.

Congenital fibrosis of the vertically acting extraocular muscles. A new group of dominantly inherited ocular fibrosis with radiologic findings.

BACKGROUND: The authors studied a family with a form of congenital fibrosis of the extraocular muscles different from any group previously reported. METHODS: A careful examination was done of all affected and all, except one, unaffected members of a family of 15 members extending over three generations. The authors performed computed tomography on five affected and four unaffected family members. RESULTS: All affected family members showed complete loss of vertical ocular movement but largely free horizontal movement except for variable restriction of adduction in some members. A variable degree of ptosis was present, ranging from gross to nil, but with poor levator function and an absent Bell phenomenon in all affected members. All affected members showed superficial keratopathy, many with corneal scarring. Ocular alignment showed considerable variation. Refractive error and amblyopia also were variable. Computed tomographic scan indicated reduction in size of the extraocular muscles, particularly the superior recti with intracranial ventricular asymmetry in three of five patients examined, and abnormality in shape of the eye globes in two patients. CONCLUSIONS: The findings indicate a new group best described as dominantly inherited congenital fibrosis of the vertical-acting extraocular muscles, which is part of the syndrome of congenital ocular fibrosis. Computed tomographic scanning suggested that the clinical picture was produced by changes present in the orbit, but intracranial ventricular asymmetry also was present in some patients and asymmetry of the eye globes in others.

The long-term results of fistulising trabeculotomy in chronic open-angle glaucoma.

BACKGROUND: Fistulising trabeculotomy has been used for nearly 20 years to combine the minimally invasive surgery of trabeculotomy with production of a subconjunctival fistula. METHODS: The canal of Schlemm was unroofed 2mm on one side of a 3mm half-thickness scleral flap. A trabeculotomy probe was passed about 30 degrees along the canal on the opposite side and rotated into the anterior chamber. RESULTS: Of 99 eyes of 74 patients, 35 eyes of 25 patients were available for follow-up at 10 or more years. The mean IOP was 14 +/- 4 mmHg (range 7 to 23 mmHg) from a preoperative IOP of 29 +/- 8 mmHg (17 to 60 mmHg). Results in 44 similar patients undergoing trabeculectomy and 44 undergoing fistulising trabeculotomy were very similar at five-year follow-up. CONCLUSION: Fistulising trabeculotomy was effective for lowering intraocular pressure with a low complication rate and a large area of subconjunctival fistulisation.

Hypoperfusion of the iris and its consequences in anterior segment pigment dispersal syndrome.

The effects of changes in iris perfusion in anterior segment pigment dispersal syndrome (ASPDS) were examined by iris fluorescein angiography in 29 patients (20 men and 9 women; mean age, 49 +/- 14 years; range, 29 to 77 years). All showed hypoperfusion, with mild to moderate microneovascularization. There was a significant relationship between the degree of hypoperfusion and pigment scatter (P < .05), and between the level of intraocular pressure (IOP) and angle pigmentation (P < .01). No statistically significant relation was found between hypoperfusion and iris leak, nor between the level of IOP and iris hypoplasia, hypoperfusion, leakage of dye, pigment scatter, or iris processes. These findings suggest that iris hypoplasia and hypoperfusion are the underlying causes of ASPDS with a congenital etiology.

The significance of anterior chamber depth in Fuchs' corneal dystrophy and cornea guttata.

It is sometimes claimed that a relationship exists between Fuchs' dystrophy and angle closure glaucoma and that this is an indication for the simultaneous performance of keratoplasty and cataract extraction in patients with Fuchs' dystrophy. If such a relationship exists, then the anterior chamber depth in Fuchs' dystrophy should resemble that in angle closure glaucoma and a significant degree of cornea guttata might be expected to be common in angle closure glaucoma. In 88 patients with angle closure glaucoma we found that the anterior chamber depth was significantly shallower than in cornea guttata or Fuchs' dystrophy for acute (p < 0.001), chronic (p < 0.002) or incipient angle closure glaucoma (p < 0.001). Cornea guttata and Fuchs' dystrophy were very infrequent in these patients with angle closure, only two having cornea guttata and one Fuchs' dystrophy. These results do not support a relationship between angle closure glaucoma and Fuchs' dystrophy or cornea guttata and do not justify performing combined cataract surgery and keratoplasty in all cases of cornea guttata or Fuchs' dystrophy undergoing keratoplasty. Each case should be assessed on its merits and combined surgery should be reserved for patients shown to have a shallow anterior chamber or significant cataract.

Long-term results with argon laser trabeculoplasty.

The long-term effectiveness of argon laser trabeculoplasty (ALT) is still questioned. In order to assess the long-term effect of ALT in our hands we reviewed the results of 102 patients who underwent ALT nine to 11 years ago. Thirty eyes of 22 patients were still available for follow-up at 9.5 years, having a fall in intraocular pressure (IOP) from 23 +/- 7 mmHg (range, 15 to 44 mmHg) before treatment to 17 +/- 4 mmHg (10 to 30 mmHg) at 9.5 years. A mean field loss of 39% +/- 29% in 21 eyes with IOP controlled in a range of 15 mmHg or less progressed another 5% +/- 4% additional loss. In eight eyes whose IOP could not be controlled below 20 mmHg a mean field loss of 10% +/- 24% sustained an additional 22% +/- 24% loss. Pressure control in the range of 16 to 20 mmHg gave intermediate results for progression of field loss. Argon laser trabeculoplasty with adjunctive medical therapy continues to lower IOP long term, but IOP control at 15 mmHg or less optimally slows field loss.