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One hundred and fifty-two patients with the Williams-Beuren syndrome were examined to assess the frequency and severity of ophthalmological features associated with the disorder. Eighty-two (54%) had strabismus, all but three, esotropia. One hundred and seventeen (77%) patients had blue irides, 10 (7%) green, and 25 (16%) brown. One hundred and twelve (74%) showed a typical so-called stellate iris pattern of the anterior stroma. Whitish anomalies were also detectable in brown irides. Two 9-year-old patients and one 46-year-old patient had initial cataract. Of all the patients with funduscopy, 22% had retinal vascular tortuosity. One patient had suspected Rieger syndrome. Two patients had ptosis, one with a Marcus-Gunn phenomenon. No ocular manifestation of hypercalcaemia was noted.
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PMID:The spectrum of ocular features in the Williams-Beuren syndrome. 872 68

Strabismus, or misalignment of the eyes, is a common ophthalmic problem in childhood, affecting 2 to 5% of the preschool population. Amblyopia is an important cause of visual morbidity frequently associated with strabismus, and both conditions should be treated simultaneously. Pharmacological means for treating strabismus and amblyopia can be divided into 3 categories: paralytic agents (botulinum toxin) used directly on the extraocular muscles to affect eye movements; autonomic agents (atropine, miotics) used topically to manipulate the refractive status of the eye and thereby affect alignment, focus and amblyopia; and centrally acting agents, including levodopa and citicoline, which affect the central visual system abnormalities in amblyopia. Botulinum toxin, the paralytic agent that causes the clinical symptoms of botulism poisoning, can be injected in minute quantities to achieve controlled paralysis of the extraocular muscles. Although the role of botulinum toxin is established in adults with paralytic strabismus, its usefulness in the treatment of comitant childhood strabismus (primary esotropia and exotropia) is not universally accepted. Botulinum injections tend to be more effective with smaller degrees of strabismus, in patients with good binocular fusion, and in managing overcorrections or undercorrections after traditional muscle surgery. Inadvertent ptosis and paralysis of adjacent muscles, unpredictable responses and technical constraints of the injections limit its use in children. Miotic therapy, by altering the refractive state of the treated eye, offers an alternative to optical correction with bifocals in treating esotropia due to excessive accommodative convergence. It is also effective in treating residual esotropia following surgery. The ease of use of glasses restricts the wide application of miotics in these common strabismus syndromes. Atropine, an anticholinergic agent, paralyses the ability of the eye to focus or accommodate. In amblyopia therapy, atropine is used to blur vision in the non-amblyopic eye and offers a useful alternative to traditional occlusion therapy with patching, especially in older children who are not compliant with patching. The neurotransmitter precursor levodopa and the related compound citicoline have been demonstrated to improve vision in amblyopic eyes. The therapeutic role of these centrally acting agents in the clinical management of amblyopia remains unproven.
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PMID:The role of drug treatment in children with strabismus and amblyopia. 1093 61

X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to 3-beta-hydroxysteroid-delta8,delta7-isomerase deficiency caused by mutations in the emopamil binding protein (EBP) gene. A 2.5-year-old Caucasian male was followed from the age of 6 weeks and noted to have significant developmental delay, hypotonia, seizures, and patchy hypopigmentation. Multiple congenital anomalies included a unilateral cataract, esotropia, crossed renal ectopia, stenotic ear canals, and failure to thrive, requiring G-tube placement. Multiple minor anomalies and ptosis were noted. No skeletal asymmetry or chondrodysplasia punctata were noted on skeletal survey at 6 weeks and 13 months. An extensive genetic work-up including cholesterol (126-176 mg/dl) and 7-dehydrocholesterol was unrevealing. However, the levels of 8(9)-cholestenol and 8-dehydrocholesterol were mildly increased in plasma, which was confirmed in cultured fibroblasts. This prompted molecular analysis of the EBP gene, which revealed a novel hemizygous (nonmosaic) mutation in exon 2 (L18P). Two restriction digests were developed that confirmed this mutation in skin fibroblasts, blood, and buccal cells (all nonmosaic). We determined that the patient's mother (adopted) also has the L18P mutation enabling prenatal diagnosis of a normal male fetus. She has normal stature, no asymmetry, no cataracts at this time, and has a patch of hyperpigmentation on her chest best visualized on Woods lamp examination, characteristic of CDPX2. The mild maternal phenotype has been described previously. However, this nonmosaic missense mutation has resulted in a severe phenotype in her surviving son.
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PMID:Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. 1536 6

Strabismus fixus is a rare condition and usually is of convergent type in which one or both eyes are anchored in a position of extreme adduction. Convergent type strabismus fixus is considered to be a congenital disorder and a part of congenital extraocular muscle fibrosis syndrome. Villasecca and Martinez described an acquired type of strabismus fixus. Hayashi et al reported that progressive esotropia could develop into the acquired type of convergent strabismus fixus. There are very few reports of divergent strabismus fixus in the literature. It may or may not be accompanied by ptosis or generalized extraocular muscle fibrosis. In our report, a case of divergent type strabismus fixus is described and discussed.
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PMID:Divergent strabismus fixus--a case report. 1270 80

Two brothers are reported with congenital ptosis and esotropia, one of whom also has polythelia. This particular constellation of clinical features has not previously been described, although comparison with recorded families does show significant overlap with the pedigree reported by Frydman et al.
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PMID:Congenital ptosis with esotropia in brothers. 1286 74

A retrospective review was carried out of 204 patients with blepharophimosis, (blepharo) ptosis and epicanthus inversus syndrome (BPES). Of these, 94 (46%) had an autosomal dominant family history of BPES. Forty (20%) had manifest strabismus. Of these, 28 (70%) had esotropia, 10 (25%) had exotropia and 2 (5%) had hypertropia. Twelve (6%) patients had nystagmus. Seventy (34%) patients had a significant refractive error requiring spectacles. Twenty-one (30%) of these patients had anisometropic hypermetropia and 24 (34%) had anisometropic myopia. Forty-three patients had bilateral amblyopia and 40 had unilateral amblyopia, with 26 (65%) of these undergoing occlusion treatment. Of these, 14 had strabismus and refractive error, 7 refractive error only, 2 strabismus only and 3 neither refractive error nor strabismus. We conclude that there is a higher incidence of strabismus and refractive error in patients with BPES than in the normal population.
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PMID:The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). 1471 Apr 75

Ondine's Curse or congenital central hypoventilation syndrome (CCHS) is a neurocristopathy (failure of migration or differentiation of neural crest-derived precursor cells) and is characterized by hypoventilation or apnea, which is most pronounced during sleep, with no other abnormalities of the neuro-respiratory system. Because of respiratory distress soon after birth, patients must be intubated and ventilated for a long time. This disorder may be associated with other symptoms of neurocristopathy (Hirschsprung disease, neuroblastoma, neuroganglioma) and other abnormalities of the autonomic nervous system (vasomotor dysfunctions or ophthalmic abnormalities: abnormal pupils, insufficient convergence, strabismus, or ptosis). We report the original case of a CCHS patient who presented with alternative ptosis of both the right and left eyes and esotropia. The ocular findings should lead to earlier diagnosis and speedier adequate treatment.
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PMID:[Ondine's Curse and rare oculomotor abnormalities: a case report]. 1688 11

The authors analyzed medical records of 1644 surgeries of strabismus and ptosis performed during the ten-years period (1997-2006). The surgeries were divided into three groups according to the age of the patients: 531 surgeries were performed in patients until the age of 6 years, 508 surgeries were in children aged 7-18 years, and the study included also 605 operative procedures in adult patients aged 19 years and older. The strabismus operations formed 1401 single or multi-phases surgeries and the ptosis correction was performed in 243 patients. The most common surgical procedures in strabismus were weakening or strengthening procedures on the horizontal muscles (65 %). Out of the weakening procedures, the authors positively preferred the adjustable partial myotomy acc. Gonin-Hollwich, which formed 51 % of surgeries on horizontal muscles. The very favorable results underlined the importance of this type of surgery in congenital esotropia, Duane syndrome I., and in excess of divergence. This surgical technique was also used as a weakening procedure as a part of the Kestenbaum procedure in the treatment of torticollis in horizontal nystagmus. The solely surgery on oblique or vertical muscles was performed in 16 %, and the most common operative procedure was the retro-position of the lower oblique muscle acc. to Parkes, and on the second place, there was its partial myotomy with electro-cautery acc. to Romer-Martinez. The weakening procedures were used together on the horizontal and oblique muscles in 10 %. Different surgical procedures, including the transposition's ones, were indicated in external ocular muscles palsies and torticollis. Altogether they formed 12 % of all strabismus surgeries. The most common procedure to treat the ptosis in children and teenagers was the fronto-tarsal suspension acc. to Fox (51 %), and in adults, it was the tarso-resection of the upper eyelid acc. to Fasanella (74 %).
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PMID:[Analysis of movement disorders surgeries at the Department of Ophthalmology, the FNKV Hospital, Prague, Czech Republic, during the ten-years period]. 1768 5

Botulinum toxin has been used extensively in strabismus management. However, less is published regarding its use in small-angled manifest deviations or decompensating heterophorias, where an alternative to surgery is required. The aim of this review is to look at the use and effectiveness of botulinum toxin in managing small-angled manifest deviations, both constant and intermittent, and decompensating heterophorias. These types of strabismus can prove difficult to manage, as the angle present is often too small for surgery to be advised, but it may still cause a cosmetic or symptom-producing problem. A search of the English speaking literature was undertaken using Medline facilities as well as a limited manual search of non-Medline journals and transactions. A brief overview is provided for mechanisms of action, complications and dose effects, and diagnostic and therapeutic uses of botulinum toxin. The main reported complications are those of ptosis, induced vertical deviation and subconjunctival haemorrhage. The higher the dose, the greater the risk of complications. In small-angle strabismus, botulinum toxin is reported as particularly useful in cases of acquired and acute-onset esotropia in aiding maintenance of binocular vision. It is useful for additional management of surgically under- or over-corrected esotropia, particularly for those with potential for binocular vision. Less effect is reported in primary exotropia versus primary esotropia. It is the management of choice for consecutive exotropia, particularly when patients have had previous multiple surgery and where there is a risk for postoperative diplopia. Botulinum toxin has a specific role in decompensated heterophoria, allowing the visual axes a chance to 'lock on' and subsequently maintain binocular vision. Successful outcomes are reported after 1-2 injections only but the results are best in cases of heterophoria with little near-distance angle disparity.
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PMID:Use of botulinum toxin in small-angle heterotropia and decompensating heterophoria: a review of the literature. 1776 54

Botulinum Toxin as a medical therapy was introduced by Dr Alan Scott more than 20 years ago. The first clinical applications of Botulinum Toxin type A (BT-A) were for the treatment of strabismus and for periocular spasms. Botulinum Toxin type A is often effective in small to moderate angle convergent strabismus (esotropia) of any cause, and may be an alternative to surgery in these cases. Botulinum Toxin type A may have a role in acute or chronic fourth and sixth nerve palsy, childhood strabismus and thyroid eye disease. The use of BT-A for strabismus varies enormously in different cities and countries for no apparent reason. Botulinum Toxin type A may be particularly useful in situations where strabismus surgery is undesirable. This may be in elderly patients unfit for general anaesthesia, when the clinical condition is evolving or unstable, or if surgery has not been successful. Botulinum Toxin type A can give temporary symptomatic relief in many instances of bothersome diplopia irrespective of the cause. Ptosis and acquired vertical deviations are the commonest complications encountered. Vision-threatening complications are rare. Repeated use of BT-A is safe.
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PMID:Botulinum toxin in the treatment of strabismus. A review of its use and effects. 1803 7


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