Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of vascular malformations (VMs). These result in chronic bleeding, acute hemorrhage, and complications from shunting through VMs. The goal of the Second International HHT Guidelines process was to develop evidence-based consensus guidelines for the management and prevention of HHT-related symptoms and complications. The guidelines were developed using the AGREE II (Appraisal of Guidelines for Research and Evaluation II) framework and GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology. The guidelines expert panel included expert physicians (clinical and genetic) in HHT from 15 countries, guidelines methodologists, health care workers, health care administrators, patient advocacy representatives, and persons with HHT. During the preconference process, the expert panel generated clinically relevant questions in 6 priority topic areas. A systematic literature search was done in June 2019, and articles meeting a priori criteria were included to generate evidence tables, which were used as the basis for recommendation development. The expert panel subsequently convened during a guidelines conference to conduct a structured consensus process, during which recommendations reaching at least 80% consensus were discussed and approved. The expert panel generated and approved 6 new recommendations for each of the following 6 priority topic areas: epistaxis, gastrointestinal bleeding, anemia and iron deficiency, liver VMs, pediatric care, and pregnancy and delivery (36 total). The recommendations highlight new evidence in existing topics from the first International HHT Guidelines and provide guidance in 3 new areas: anemia, pediatrics, and pregnancy and delivery. These recommendations should facilitate implementation of key components of HHT care into clinical practice.

Unilateral rectus resection in the treatment of undercorrected or recurrent strabismus.

BACKGROUND: When surgery is required for an undercorrection or for a recurrent strabismus that is in the same direction as the previous deviation, traditional options have included a rerecession of the previously operated muscle(s), a marginal myotomy of the previously operated muscle(s) with or without a resection of the direct antagonist, or a bilateral resection of the antagonist muscles. While many surgeons prefer to perform a bilateral resection for these reasons, a unilateral resection would be a useful approach for small to moderate deviations. METHODS: Data were collected for patients who had undergone a unilateral rectus resection: age, number of prior surgeries, the preoperative deviation, the postoperative deviation at 1 week, 6 weeks, and 6 months, and the amount of surgery performed. An acceptable postoperative result was considered to be any deviation >8 pd. RESULTS: A resection of a single rectus muscle was undergone by 11 3 patients. Complete data were available on 81 of these patients: 60 underwent a unilateral resection of the lateral rectus and 21 underwent a unilateral resection of the medial rectus. Of those patients undergoing a unilateral lateral rectus resection, 90% were acceptably aligned at the 6-month postoperative exam. Among those patients undergoing a medial rectus resection, 95.2% obtained a successful result. CONCLUSIONS: A unilateral resection of the medial or lateral rectus is an effective tool in the treatment of undercorrected or recurrent strabismus. It is predictable, stable in the immediate postoperative period, and limits surgery to 1 eye.

Augmented Hummelsheim procedure for paralytic strabismus.

PURPOSE: To report a modification of the Hummelsheim procedure for use in the management of paralytic strabismus. METHODS: Eight patients with paralytic strabismus secondary to third nerve palsy (n=1), sixth nerve palsy (n=3), combined cranial nerve palsy (n=1), or extraocular muscle damage (n=3) were treated using a modification of the Hummelsheim transposition procedure. The procedure involves half-tendon transpositions of the adjacent rectus muscles to the insertion of the paralyzed muscle, coupled with resection of the transposed halves. Further augmentation was achieved by surgical or pharmacologic weakening of the ipsilateral (n=6) or contralateral (n=1) antagonist. One patient underwent the procedure bilaterally. All patients underwent at least 6 weeks of follow-up. RESULTS: The mean preoperative primary position deviation in the seven unilateral cases was 54 prism diopters (delta) (range: 25-85 delta). Preoperative forced ductions were positive in four cases. Resections varied from 4-8 mm. Ipsilateral antagonist recession varied from 0-14 mm. The mean change was 52 delta (range: 25-85 delta). Five cases were aligned within 15 delta of orthotropia at 6 weeks. No cases of anterior segment ischemia or induced vertical deviation were noted. CONCLUSION: The modified Hummelsheim procedure appears capable of correcting large angles of strabismus associated with muscle palsy of various etiologies. It is safe, amenable to adjustable sutures, and relatively tissue- and vessel-sparing. Additional study is required to understand more fully the procedure's component effects and its interaction with ocular rotation.

Rupture of the anterior lens capsule in Alport syndrome.

Alport syndrome is an inherited disorder of type IV collagen, a major constituent of basement membranes. Eighty-five percent of cases are transmitted through X-linked dominant inheritance, although autosomal dominant and autosomal recessive inheritance has also been reported. Clinical manifestations of Alport syndrome include progressive glomerulopathy, sensorineural deafness, anterior lenticonus, posterior corneal dystrophy, and abnormal retinal pigmentation. Anterior lenticonus may lead to loss of vision because of progressive myopia or cataract formation. We report 2 cases of unusual cataract formation in adolescent boys who had a rupture of the anterior lens capsule. One rupture was spontaneous, and the other was traumatic.

The negative psychosocial impact of strabismus in adults.

INTRODUCTION: The goal in the treatment of strabismus is to realign the visual axes to eliminate diplopia, produce or restore binocular vision, expand the binocular visual field, and/or provide a normal appearance. The treatment of strabismus in adults who do not experience diplopia or who do not have binocular potential has sometimes been regarded as "cosmetic." Many adults with strabismus have stated that it has had a negative effect on their lives. This study was designed to ascertain whether there is a negative social bias against adult patients with strabismus that could affect interpersonal relationships and limit employment opportunities. METHODS: An orthotropic person was photographed in primary, right, and left gaze. These photographs were then digitally altered to produce an esotropia and exotropia of similar magnitude. Subjects were then asked to evaluate a single photograph with reference to personality characteristics that are important for social interaction and employment capability. RESULTS: Overall, the strabismic faces were judged significantly more negatively, across 11 descriptive characteristics, than the nonstrabismic face. The effect of esotropia was worse than exotropia. CONCLUSION: Strabismus creates a significant negative social prejudice. These biases can have a detrimental impact on socialization and employability. Treatment of strabismus may positively alter perceived characteristics of individuals and improve their ability to socialize normally and obtain employment. Therefore, the treatment of strabismus should not be considered cosmetic even when there is no hope of improving binocular vision.

Double vision in a child.

A 10-year-old boy presented with a complete left oculomotor cranial nerve palsy. Diagnostic evaluation, including neuroimaging and cerebral angiography revealed a small intracranial aneurysm compressing the third nerve. Neurosurgical clipping of the aneurysm produced resolution of the third nerve palsy. The rarity of this presentation in a young patient is discussed, along with the importance of rapid diagnosis and treatment.

Common ophthalmologic concerns in infants and children.

Pediatric ophthalmology differs from adult eye care in many aspects. Some disorders are seen only in children although others may be found in adults as well. A major difference between pediatric and adult ophthalmology is the impact that almost any disorder may have on the developing visual system. This article addresses common pediatric eye disorders and their potential effects on the visually impaired immature child. Referral guidelines and vision screening are also discussed.

Early and late postoperative alignment following unilateral lateral rectus recession for intermittent exotropia.

PURPOSE: Bilateral lateral rectus recession is useful in the treatment of intermittent exotropia. A unilateral recession may be used in the treatment of small-to-moderate angle intermittent exotropia as well. An early overcorrection following bilateral surgery has been shown to carry the best prognosis for future alignment. The relationship between the early and late postoperative alignment following unilateral surgery is unknown. The current study was designed to establish this relationship. METHODS: Thirty-seven patients undergoing a unilateral lateral rectus recession for intermittent exotropia were prospectively evaluated to determine the relationship between early and late postoperative alignment. Patients were evaluated 1 week and 6 months following surgery. A satisfactory result was considered to be alignment within 8 prism diopters (delta). RESULTS: Of the 37 patients who underwent surgery, 35 completed the study. Overall, 77% of patients achieved a satisfactory result at the 6-month exam (27/35). Satisfactory alignment at 6 months was obtained in all patients who were orthophoric (14/14), 77% (10/13) of patients with an exodeviation less than 9 delta (10/13), and 60% (3/5) of patients with an exodeviation less than 9 delta at the 1-week postoperative exam. Twenty-nine percent of patients changed alignment status during this time period (10/35), and 29% of all patients became more divergent (10/35). The average divergent shift for the entire group was 1.6 delta and was not significant. Among those patients who experienced a divergent shift, the average amount was 6 delta. CONCLUSIONS: There is not a significant difference in early versus late alignment following unilateral lateral rectus recession. Surgeons performing this procedure should not expect a significant divergent shift from the first postoperative week. Unlike bilateral recessions where an early overcorrection is desirable, acceptable alignment in the first week following surgery carries the best prognosis for later alignment.

Needle sterility during strabismus surgery.

BACKGROUND: Infection after strabismus surgery is uncommon and its cause remains unanswered. The source of the bacteria and the manner in which it enters the eye is often unknown. Most pediatric ophthalmologists now use 5% povidone-iodine to reduce the bacterial population before surgery. The needles used during strabismus surgery may be a source of bacterial contamination. METHODS: One hundred six needles were cultured after their use in strabismus surgery. RESULTS: Sixteen of 106 needles (15.1%) and 15 of 61 cases (24.6%) were culture positive. The organisms recovered closely resembled indigenous bacterial flora. CONCLUSION: This study suggests that the needles used during strabismus surgery may be the source of bacteria that can lead to infections after strabismus surgery.

Orbital hemorrhage after the administration of sub-Tenon's infusion anesthesia.

Administration of a sub-Tenon's anesthetic induced an orbital hemorrhage in a patient who underwent strabismus surgery. This report is the first case of this sight-threatening complication after sub-Tenon's infusion anesthesia.

Subnormal binocular vision in the Williams syndrome.

PURPOSE: Patients with Williams syndrome have been found to have a high prevalence of strabismus. This may be due to a primary sensory abnormality. The purpose of this study was to determine the prevalence of subnormal binocular vision in patients with Williams syndrome. METHODS: Patients being followed in an interdisciplinary Williams syndrome clinic were prospectively evaluated to determine their binocular status. RESULTS: Eleven patients with Williams syndrome underwent an ophthalmologic evaluation. Twenty-seven percent of patients had strabismus (3/11). Eight patients demonstrated no measurable strabismus. Six of these patients were found to have monofixation syndrome. CONCLUSIONS: There is a high prevalence of subnormal binocular vision in Williams syndrome. This subnormal binocular vision may explain the high prevalence of strabismus in this syndrome.

Reduced stereoacuity in Williams syndrome.

Strabismus is a frequently recognized manifestation of Williams syndrome [Greenberg and Lewis, 1988: Ophthalmology 95:1608-1612; Kapp et al., 1995: Am J Ophthalmol 119:355-360]. We recently evaluated the ophthalmologic function of 12 patients with Williams syndrome (WS), with an emphasis on binocularity. Four of 12 patients (33%) had measurable strabismus. Of the 8 remaining patients, examination of binocular function was possible in 6, all of whom demonstrated reduced stereoacuity. We speculate that subnormal binocular vision and the poor visuospatial performance observed in patients with WS may be related to abnormal brain morphogenesis in the region of the occipitoparietal cortex.