Horizontal muscle transposition or oblique muscle weakening for the correction of V pattern?

PURPOSE: To report and to analyze the efficacy of horizontal rectus muscle transposition and inferior oblique muscle weakening in terms of pattern correction for patients with V pattern. METHODS: The review of the medical files identified 55 patients who had esotropia (ET) or exotropia (XT) with V pattern. The primary outcome measure was the amount of V pattern collapse (Δ). RESULTS: Of the 55 patients (mean age 22.1 ± 9.5 years), 27 (49.1%) were males and 28 (50.9%) were females. The type of deviations was XT in 30 patients (54.5%) and ET in 25 patients (45.5%). Inferior oblique muscle weakening was performed in 43 (78.2%) patients, whereas horizontal muscle transposition was carried out in 12 (21.8%) patients in addition to recession-resection procedures. The amount of pattern was significantly reduced in both groups (P=0.01 for the horizontal offset group and P<0.01 for the oblique muscle weakening group). CONCLUSION: Oblique muscle weakening surgery and horizontal muscle offset are effective in the correction of V pattern when the amount of pattern is under 30Δ.

Amblyopia and sensory features at initial presentation of Brown syndrome: an issue to recognize.

PURPOSE: To investigate the frequency of amblyopia and sensory features at initial presentation in patients who had unilateral congenital Brown syndrome (BS) and to identify the potential risk factors for amblyopia in BS. METHODS: The study conducted with patients who had unilateral congenital BS. Patient demographics, visual acuity, refractive errors, amount of horizontal and vertical deviations, abnormal head position, fusion, and stereopsis were all reviewed. The main outcome measure was the frequency of amblyopia at initial presentation. RESULTS: The review identified 44 patients with BS (median age 5 years). The frequency of amblyopia was 15.9% (seven patients) in BS at initial presentation. Patient age (P=0.297), ocular alignment at primary position (P=0.693), anisometropia (P=0.184), and stereoacuity (P=0.061) were found to have no significant relation with amblyopia. The main associated risk factor was the absence of sensory fusion (P=0.013). CONCLUSIONS: Amblyopia may be encountered among patients with BS, and may be related to binocularity of the patient. Its recognition may be a critical step during the treatment planning and may determine presumably the success of future therapies.

Outcome of abducens nerve paralysis in patients with nasopharyngeal carcinoma.

PURPOSE: The objective of this study was to investigate the incidence, management and outcome of patients with nasopharyngeal carcinoma (NPC) who developed Vlth nerve palsy. METHODS: Between December 1993 and December 1999, we investigated retrospectively the charts of 166 patients with NPC. RESULTS: Twenty-eight of 166 patients (16.8%) had cranial nerve involvement at the time of the diagnosis of NPC. Sixteen (57.2%) were identified as having abducens nerve palsy. In 25% abducens nerve palsy was the presenting symptom. Three patients were able to compensate for their diplopia after prism correction or botulinum toxin-A injection, and six (50%) completely recovered from abducens nerve palsy after either radiotherapy or chemotherapy. CONCLUSIONS: Abducens is the most common cranial nerve involved in NPC, radiotherapy and or chemotherapy relieves the paralysis in half the patients. Prism correction or botulinum toxin-A injection are effective non-invasive procedures for patients with significant diplopia.

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.

Isolated strabismus affects 1-5% of the general population. Most forms of strabismus are multifactorial in origin; although there is probably an inherited component, the genetics of these disorders remain unclear. The congenital fibrosis syndromes (CFS) represent a subset of monogenic isolated strabismic disorders that are characterized by restrictive ophthalmoplegia, and include congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DURS). Neuropathologic studies indicate that these disorders may result from the maldevelopment of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. To date, five CFS loci have been mapped (FEOM1, FEOM2, FEOM3, DURS1 and DURS2), but no genes have been identified. Here, we report three mutations in ARIX (also known as PHOX2A) in four CFEOM2 pedigrees. ARIX encodes a homeodomain transcription factor protein previously shown to be required for nIII/nIV development in mouse and zebrafish. Two of the mutations are predicted to disrupt splicing, whereas the third alters an amino acid within the conserved brachyury-like domain. These findings confirm the hypothesis that CFEOM2 results from the abnormal development of nIII/nIV (ref. 7) and emphasize a critical role for ARIX in the development of these midbrain motor nuclei.

CNGA3 mutations in hereditary cone photoreceptor disorders.

We recently showed that mutations in the CNGA3 gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone photoreceptor disorders. CNGA3 mutations were detected not only in patients with the complete form of achromatopsia but also in incomplete achromats with residual cone photoreceptor function and (rarely) in patients with evidence for severe progressive cone dystrophy. In total, mutations were identified in 53 independent families comprising 38 new CNGA3 mutations, in addition to the 8 mutations reported elsewhere. Apparently, both mutant alleles were identified in 47 families, including 16 families with presumed homozygous mutations and 31 families with two heterozygous mutations. Single heterozygous mutations were identified in six additional families. The majority of all known CNGA3 mutations (39/46) are amino acid substitutions compared with only four stop-codon mutations, two 1-bp insertions and one 3-bp in-frame deletion. The missense mutations mostly affect amino acids conserved among the members of the cyclic nucleotide gated (CNG) channel family and cluster at the cytoplasmic face of transmembrane domains (TM) S1 and S2, in TM S4, and in the cGMP-binding domain. Several mutations were identified recurrently (e.g., R277C, R283W, R436W, and F547L). These four mutations account for 41.8% of all detected mutant CNGA3 alleles. Haplotype analysis suggests that the R436W and F547L mutant alleles have multiple origins, whereas we found evidence that the R283W alleles, which are particularly frequent among patients from Scandinavia and northern Italy, have a common origin.

Is activated factor VII associated with retinal vein occlusion?

AIM: To determine whether a newly identified thrombophilia factor, activated factor VII (FVIIa), is associated with retinal vein occlusion (RVO). METHODS: 54 consecutive cases with RVO seen between March and September 1999 were included in the study. 22 cases had central retinal vein occlusion (CRVO) and 32 had branch retinal vein occlusion (BRVO). Ophthalmoscopic examination with detailed medical history was followed by blood analyses for liver and renal functions, cholesterol, triglycerides, complete blood count, and coagulation factors including protein C activity, free protein S, antithrombin III, fibrinogen, and factor VIIa (FVIIa). Data were compared with those of the control group, composed of 19 cases under ophthalmological follow up for refractive errors, presbyopia, or senile cataract. RESULTS: Hypertension was highly prevalent in cases with BRVO. Complete blood count, and liver and kidney function tests were within normal limits in the study group. Two cases had low protein C activity, and one had low free protein S. FVIIa levels were significantly higher in the RVO group than in the control group (p=0.0004). There was no significant difference in FVIIa levels between the CRVO and BRVO groups (p=0.51). CONCLUSION: No haematological parameter except FVIIa differed significantly from that of the control group. Elevation of FVIIa level may play a part in the pathophysiology of both CRVO and BRVO.

Presumed sertraline maculopathy.

PURPOSE: To report a unique case of a woman who developed simultaneous bilateral maculopathy presumed to result from intake of sertraline hydrochloride, a serotonin reuptake inhibitor. METHODS: Full clinical ocular examination, color vision testing, automated static perimetry, electroretinography, electrooculography and fundus fluorescein angiography were performed. Living members of her family were also examined. RESULTS: The patient had normal electroretinography and electrooculography results. Automated static perimetry showed generalized reduction of sensitivity and central scotomas. Macular lesions resolved 6 months after discontinuation of sertraline, however, during twenty months of follow-up her visual acuity and abnormalities in other psychophysical tests did not improve. CONCLUSION: Patients started on sertraline should be informed of the potential risk of developing maculopathy, and they should be examined regularly to detect possible early alterations.

Bilateral orbital hemorrhage induced by labor.

We describe a woman in whom bilateral orbital hemorrhage occurred during labor. She developed sudden proptosis and complete loss of vision bilaterally. After a stillbirth, she underwent total hysterectomy because of atonic uterus and postpartum hemorrhage. The location of the hematomas was confirmed by magnetic resonance imaging. Clinical resolution occurred in one month but both eyes remained blind. Fundoscopy revealed bilateral atrophy of the optic discs.

Reappraisal of probing of the congenital obstruction of the nasolacrimal system: is nasal endoscopy essential?

OBJECTIVE: The rate of false passages during probing for congenital nasolacrimal system obstruction (CNLO) is a major limiting factor for a successful outcome. This shortcoming may be decreased with the use of a nasal endoscope during probing. This approach is particularly important in the probing training of ophthalmology residents. METHODS: An experienced pediatric ophthalmologist performed probings on 11 eyes, and a group of ophthalmology residents under his supervision performed probings on another 11 eyes for CNLO. Their claims of a successful or unsuccessful procedure were evaluated with nasal endoscopy by an ear--nose--throat (ENT) surgeon. The age range of the patients was 8-23 months. RESULTS: The ophthalmologist made two false passages, one of which he was aware, out of 11 eyes. The residents had five false passages, two of which were unclear to them, out of another 11 eyes. No false passages occurred in obstructions at the level of the Hasner valve. None of the successful probings required more than a 30 mm probe introduction into the nasolacrimal canal from the inferior punctum. CONCLUSION: It seems justified to have a nasal endoscopic evaluation, performed by an ENT surgeon, for probings during the training program of ophthalmology residents. Difficult cases with stenosis proximal to the inferior meatus, prior false passage experience on a particular case, and any indication for silicone tube implantation will benefit from the use of an endoscope during the procedure. In order to achieve the best results in CNLO, the collaborative teamwork of an ophthalmologist and an ENT specialist is necessary.

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.

OBJECTIVES: To describe the phenotype of a Turkish family with variably expressed congenital fibrosis of the extraocular muscles (CFEOM), and to determine the genetic location of their disorder. METHODS: Participants were examined and had blood extracted for genetic analysis. The clinical features of the family's disorder were studied, and the disorder was tested for linkage to the 3 known CFEOM loci (CFEOM1, CFEOM2, and CFEOM3). RESULTS: Twenty-nine affected and 31 unaffected family members participated in the study. Eighteen affected individuals had congenital bilateral ptosis and restrictive infraductive (downward) ophthalmoplegia, consistent with the published descriptions of classic CFEOM families linked to the CFEOM1 locus. Eleven affected individuals, however, had eye(s) in a neutral primary position, residual upgaze, and/or absence of ptosis, thus deviating from previous descriptions of CFEOM1-linked families. Analysis of the autosomal dominant variably expressed disorder in this family revealed linkage to the CFEOM1 locus on chromosome 12 with a maximum lod score of 10.8 at D12S85. CONCLUSIONS: This Turkish family segregates a variably expressed form of CFEOM that most closely resembles CFEOM3-linked CFEOM, but maps to the CFEOM1 locus. CLINICAL RELEVANCE: These data establish that there is much greater phenotypic heterogeneity at the CFEOM1 locus than previously reported, and this may blur our ability to distinguish the different CFEOM loci based solely on clinical presentation. Arch Ophthalmol. 2000;118:1090-1097

Efficacy and complications of dose increments of botulinum toxin-A in the treatment of horizontal comitant strabismus.

PURPOSE: To investigate the efficacy and complications associated with dose increments of botulinum toxin-A (BTA) for comitant horizontal strabismus patients. METHODS: Twenty-five esotropic (ET) and 45 exotropic (XT) patients received 2.5-20 U of BTA injection. Parameters for achieving less than 10 prism dioptres (pd) of horizontal deviation and percentage correction of the pretreatment deviation were assessed for injections of less than 10 U and more than 10 U of BTA. Induced ptosis and vertical deviation were examined within and after 6 months of follow-up. RESULTS: The mean pretreatment deviations were 38.6 +/- 2.5 pd and 37.6 +/- 1.9 pd for the ET and XT groups, respectively. After receiving 1.6 and 1.5 injections on average, improvement to less than 10 pd at the primary position occurred in 32% of ET and 22% of XT patients; the difference was not statistically significant. The percentage corrections of the ET patients were 41.4 +/- 9.3% and 36.9 +/- 5.6% in those treated with less than 10 U and more than 10 U of BTA respectively; the difference between the two groups was insignificant. For the XT patients the values were 42.1 +/- 7.4% and 28.9 +/- 3.5% respectively, which also were not statistically significantly different. Frequency of induced ptosis was more common in ET than XT patients (p = 0.01) and this difference was more pronounced with increased doses of BTA (7.7% in ET and 5.3% in XT patients with less than 10 U of BTA, and 24.0% in ET and 4.3% in XT patients with more than 10 U of BTA). Ptosis resolved completely within 6 weeks in all cases. Induced vertical deviation with less than 10 U of BTA was encountered in one case of ET (11.1%, 9 pd) and in another case of XT (8.3%, 4 pd), increasing to 60.0% (2-20 pd) and 38.8% (4-16 pd) respectively with more than 10 U of BTA injection. In about a year, induced vertical deviation resolved in approximately 40%, and decreased in 30% of the cases. CONCLUSION: Increasing the dose of BTA is clinically effective in larger deviations, although statistically indifferent, especially in ET compared with XT. However, an increased dose is accompanied by increased incidence of induced ptosis and vertical deviation. Ptosis is temporary, but vertical deviation may persist for a long time and may present a cosmetic problem for some patients when more than 10 U of BTA is used.

A comparative study on the effects of apraclonidine and timolol on the ophthalmic blood flow velocity waveforms.

PURPOSE: To evaluate the effects of topical timolol and apraclonidine on retrobulbar blood flow velocity waveforms in a group of healthy volunteers. METHODS: Apraclonidine 1% and timolol maleate 0.5% single dose administrations were crossed over double masked in 12 healthy volunteers. The intraocular pressure measurements were followed by Doppler examination of the ophthalmic artery and the central retinal artery. RESULTS: Intraocular pressure was reduced significantly on both treated and fellow eyes after timolol (p = 0.003, p = 0.04 respectively) and after apraclonidine (p = 0.002, p = 0.01 respectively). After apraclonidine administration end diastolic velocity, mean velocity decreased and pulsatility index increased in the ophthalmic artery of both treated and fellow eyes. Resistivity index increased and peak systolic velocity decreased only in the ophthalmic artery of treated eyes. All Doppler indices remained nonsignificant for central retinal artery of both eyes. After timolol administration there were no significant changes of the Doppler indices in the ophthalmic artery and central retinal artery of the treated and fellow eyes. CONCLUSION: Topical timolol and apraclonidine significantly reduced the intraocular pressure. Single dose administration of apraclonidine 1% increased the vascular impedance distal to the ophthalmic artery. On the other hand, timolol 0.5% had no effect on vascular impedance.

Full-time atropine, intermittent atropine, and optical penalization and binocular outcome in treatment of strabismic amblyopia.

OBJECTIVE: The purpose of the study is to evaluate the monocular and binocular outcome of three types of "penalization" (blurring of the sound eye) treatment of amblyopia: traditional full-time atropine or optical penalization and a new intermittent atropine regimen involving atropine instillation 1 to 3 days a week. DESIGN: The study design was a retrospective study. PARTICIPANTS: A total of 163 patients with strabismic amblyopia treated by full-time atropine (n = 38), intermittent atropine (n = 73), or optical (n = 52) penalization participated. MAIN OUTCOME MEASURES: Logarithm of the minimum angle of resolution (logMAR) visual acuity, and binocularity index were determined. RESULTS: All three forms of penalization produced statistically significant mean reduction in amblyopia (1.7-2.7 logMAR lines) and mean improvement in binocularity by the end-of-treatment or long-term follow-up visit or both, with minimal mean loss after discontinuation or slight mean improvement on these measures at long-term mean follow-up of 1.9 to 4 years across groups. Few patients achieved high-grade stereoacuity. Compliance was high. Comparable efficacy was found for all three treatment groups after controlling for age, depth of amblyopia, and binocularity at the initial visit. Initial-visit amblyopia depth was strongly and significantly associated with amblyopia depth at both post-treatment visits. Pretreatment and post-treatment binocularity showed a similar strong relationship. Surprisingly, however, there was no consistent or significant association found between depth of amblyopia and binocularity in any visit combination. Post-treatment measures of these two variables also were not associated with initial-visit age or refractive error at any clinically significant level. Mean treatment duration was 1.1 to 2.9 years and was not found to be associated with visual outcome. Amblyopia reversal was found in one (full-time atropine) case at a clinically important level. CONCLUSIONS: The authors confirmed previous reports of penalization's efficacy as a primary treatment of moderate amblyopia (20/100 or better acuity) and, in some cases, relatively severe amblyopia (>20/100) and also confirmed its ability to significantly improve mean binocularity. Amblyopia and binocularity appear to respond to treatment independently and, within the postinfancy age range of the sample studied, the responses appear to be independent of initial-visit age. The high acceptability to patients and parents of atropine penalization, and particularly of the intermittent regimen introduced here, suggests the need for prospective-study-based re-evaluation of the relative merits of penalization and occlusion as the standard of care for mild-to-moderate amblyopia.

Magnetic resonance imaging in evaluation of congenital and acquired superior oblique palsy.

BACKGROUND: According to the recently popularized classification of superior oblique (SO) palsy based on congenital variations of the tendon, the primary pathology is the abnormality of the SO tendon rather than an innervational problem in congenital cases. If this hypothesis is true, denervation atrophy of SO muscle should not occur in patients with congenital SO palsy. METHODS: Eight patients with traumatic and nine patients with definite congenital SO palsy underwent magnetic resonance imaging (MRI) of the orbit. SO muscle width and cross-sectional area measurements were taken from coronal images and compared with the clinically uninvolved superior oblique muscles. RESULTS: Atrophy of varying degrees was observed in the SO muscle both in congenital and acquired cases. No significant difference was found in the appearance of the SO muscle between acquired and congenital SO palsy groups. CONCLUSION: We have been unable to demonstrate abnormalities of the SO tendon in both groups. The MRI appearance of the SO muscle suggested that in congenital SO palsy, the pathology is not limited to the tendon; there also is an abnormality of the muscle itself.

Factors influencing the successful outcome and response in strabismus surgery.

In this retrospective study based on 140 esotropic and 51 exotropic patients, the factors influencing successful outcome and response to strabismus surgery were investigated. Thirteen independent variables were chosen. The pre-operative deviation was found to be the only discriminant factor for early and late successful surgical outcomes in esotropic patients. For exotropic patients the visual acuity of the left eye was the discriminant factor for early successful surgical outcome. In esotropic patients the response to surgery increased with increasing amounts of pre-operative deviation. It was lower for patients with older age of onset and larger amounts of medial rectus recession. For exotropic patients the response to surgery was higher for larger pre-operative deviations. Eliminating possible sources of error when determining the pre-operative deviation will improve the predictability of the response to surgery and surgical outcome.

Factors influencing success and dose-effect relation of botulinum A treatment.

Botulinum toxin type A (BTA) treatment is an alternative to strabismus surgery. In this retrospective study the data on 45 esotropic and 49 exotropic patients with concomitant strabismus who were treated with BTA were analysed for dose-effect relationship, the effect of repeat doses and amblyopia on success of botulinum treatment. The esotropic patients were treated with a total of 80 and exotropic patients with 91 injections. The deviations were corrected within 5 degrees of straight in 33% of esotropic and 18% of exotropic patients. In esotropic patients the effect was dose dependent. This relation was not shown in exotropic patients. The repeat doses of BTA corrected the deviation to the same extent as the primary ones for both esotropic and exotropic patients.

Evaluation of congenital Brown's syndrome with magnetic resonance imaging.

The magnetic resonance (MR) findings in congenital Brown's syndrome were investigated. Sixteen involved eyes of 12 patients were compared with 20 eyes of 10 controls. An enlargement of the tendon-trochlea complex was observed in congenital Brown's syndrome. In addition, the appearance of the tendon-trochlea complex was irregular in shape and of intermediate signal intensity. The MR appearances in patients with a satisfactory or poor response to surgery did not show any significant differences from each other or from those in patients who had not undergone surgery. This was also the case for the patient with spontaneous improvement. The MR examination in congenital Brown's syndrome suggested that the abnormality was located at the tendon-trochlea complex but clinically it does not give a clue about the outcome of the disease.