Bilateral Congenital Ptosis Research Articles

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

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. 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). 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. This Turkish family segregates a variably expressed form of CFEOM that most closely resembles CFEOM3-linked CFEOM, but maps to the CFEOM1 locus. 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

Are carotid endarterectomy complication rates being monitored?

<h3>AIMS</h3> To characterise the inheritance of ptosis in one particular pedigree. <h3>METHODS</h3> The pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the condition. <h3>RESULTS</h3> Affected members of the pedigree have bilateral symmetrical congenital isolated ptosis, a condition which is linked to genetic markers on the X chromosome in this family. <h3>CONCLUSION</h3> A pedigree with dominantly inherited congenital bilateral ptosis is presented. The pedigree exhibits X linked dominant inheritance. A new ophthalmic condition was thereby characterised—namely, X linked dominant congenital isolated bilateral ptosis.

Tripartite frontalis muscle flap transposition for blepharoptosis.

Transposition of frontalis muscle to the tarsus is an effective technique for correction of blepharoptosis with poor levator function. This is refined by division of the frontalis muscle flap into three strips, which are sutured separately to the upper tarsal border. Thirty-six patients with blepharoptosis (54 eyelids) had tripartite frontalis muscle flap procedures. The ptosis was congenital in 33 patients. Forty-eight eyelids had poor levator function. Six had fair levator function. The frontalis action ranged from 8 to 14 mm. The average of follow-up evaluation was 32 months. The postoperative results were evaluated by Berke's criteria, various sensation tests of the forehead, and presence of forehead wrinkles. The tripartite frontalis muscle flap provided an even distribution of upward pull on the tarsus without tenting the lid margin. Ptosis on superior and primary gaze, an intrinsic complication of maximal levator resection or frontalis suspension, was not observed after this procedure. Lagophthalmos was transitory, usually disappearing within 3 months. Lid lag was mild-to-moderate. Mild hypesthesia of the forehead returned completely to normal in all patients, followed more than 24 months. Slight lowering of the medial portion of the eyebrow and incomplete wrinkling of the forehead on upward gaze were mild cosmetic defects after correction in 4 patients with unilateral ptosis. The tripartite frontalis flap technique is recommended for patients with bilateral congenital ptosis and fair-to-poor levator function, and for unilateral ptosis, if either contralateral brow lift or bilateral frontalis transposition is appropriate.

Neurological impairment in congenital bilateral ptosis with ophthalmoplegia

A case is described of congenital bilateral ptosis and ophthalmoplegia due to incomplete bilateral paralysis of the third cranial nerve associated with dysmorphisms, brain malformations and epileptiform EEG abnormalities. We hypothesize that in our case the ophthalmological disturbance is due to mesencephalic impairment. In literature there are few reports of congenital bilateral paralysis of the third cranial nerve and they lack detailed MRI findings. We stress in patients with congenital third cranial nerve palsy the importance of thorough neurological investigations including prolonged wake-sleep EEG monitoring as well as CT scan and MRI to establish the origin of the disorder.

Early Correction of Severe Congenital Ptosis

Twelve infants with severe unilateral or bilateral congenital ptosis were surgically repaired before 1 year of age in an attempt to achieve early functional and cosmetic improvement. In all cases, a frontalis suspension using polyfilament nylon suture (Supramid Extra) was performed. Postoperatively, 10 patients achieved near normal eyelid position and all had resolution of their chin-up head posture. Two slings eventually failed, requiring repeat procedures for recurrent ptosis. Two developed signs of cellulitis that were successfully treated with oral antibiotics.

Surgical options for congenital ptosis with poor levator muscle function.

HE SURGICAL approach to the correcT tion of congenital ptosis is based on the amount of levator muscle function. It is generally agreed that levator resections, tucks, or advancements provide adequate correction for cases with fair (5 mm to 7 mm) or good (8 mm or more) levator muscle function. Children with poor (4 mm or less) or absent levator muscle function are particularly difficult to treat. Frontalis suspension procedures using various suspensory materials and sutures are advocated by many surgeons for the correction of severe congenital ptosis. More recently, alternative procedures such as maximal or “supermaximal” levator resection”* and Whitnall’s sling3 have been proposed to correct this problem. EVALUATION In a child with severe unilateral or bilateral congenital ptosis, the levator muscle function should be examined in both eyes. The eyelid excursion is assessed by having the child look up and down while the brow is being held firmly. A millimeter ruler is held vertically in front of the lids of one eye, and the amount of excursion from extreme down to the extreme up position is measured. The distance between the lid crease and the lid border and the width of the palpebral aperature in the primary position is measured and recorded for each eye. The normal lid has an excursion of 15 mm, whereas a ptotic lid usually moves from 4 mm to 12 mm. As previously stated, poor levator function is considered 4 mm or less. The patient should be

Congenital bilateral recurrent nerve paralysis and ptosis: A new syndrome?

Bilateral vocal cord paralysis is a rare, but not unheard of, occurrence in the perinatal period. It is often incompatible with life unless the problem is recognized promptly, the child intubated, and--following this--a tracheotomy performed. Bilateral congenital ptosis is a very rare occurrence and is almost always associated with either significant central nervous system deficit or with other oculomotor problems. The combination of congenital bilateral recurrent nerve paralysis and congenital ptosis has not been previously reported in the English language literature. The author has had the opportunity to manage two patients, a father and his daughter, both of whom manifested this unusual combination of symptoms. Detailed case histories are presented. Both of the patients were successfully managed by temporary tracheotomy followed by reinnervation of the larynx, with eventual extubation and satisfactory day-to-day airway. Although only two cases represent an inadequate number to determine a new syndrome, these striking findings in a father and his only offspring suggest the possibility that this may, indeed, represent a new symptom complex of congenital origin.

COMMENT ON BANK STORAGE OF FASCIA LATA

To the Editor. —The article entitled Feasibility of a Bank for Storage of Human Fascia Lata Sutures by Mandelcorn and Crawford that appeared in the May issue of theArchives(87:535-537, 1972) prompted us to report the case of a 10-year-old boy suffering from congenital bilateral ptosis. He had a brow suspension with autogenous fascia lata. We elected not to operate on both eyes at the same time. In the first operation, freshly obtained fascia lata from the patient was used. Fascia lata obtained during the first operation was preserved in liquid nitrogen for four months and was then used for the operation on the second eye. Both operations were performed by the same surgeon using the same technique. No difference was noted in the preserved material during surgery as compared to the fresh material. After a one-year follow-up, the results in both eyes were good and identical. Drs. Mandelcorn

Frontal Suspension Procedure using Frontalis Muscle for Management of Ptosis

Background : Ptosis has a reputation as a cosmetic problem, but it is more often as a functional deficit that can have real impact on patients’ lives. Ptosis results from the dysfunction of one or both of the upper eyelid retractors and often blocks peripheral vision. Ptosis can be congenital or caused by aging. Frontal suspension is one of few techniques for correction of ptosis especially for severe ptosis. Patient and Method : We reported one case of severe ptosis. The patient had bilateral congenital ptosis at both of upper eyelids. The upperlid excursion was 4 mm and marginal reflex distance (MRD) was 2 mm. A frontal suspension procedure using frontalis muscle was done for correction. Result : After frontal suspension procedure, MRDare 5 mm for both eyes. There wee no difficulty for closing the eyes. The cosmetic appearance was good. Patient was satisfied with the result. Conclusion : Frontal suspension procedure using frontalis muscle gives a good function and cosmetic result for severe ptosis.

Orodigitofacial dysostosis and oculodentodigital dysplasia: Two distinct syndromes with some similarities: By Eliecer Eidelman and Mark L. Wagner. Oral Surg., Oral Med. & Oral Path. 23: 311–319, March, 1967

Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects.A 3.5 year old female child with BRWS has bilateral congenital ptosis, microcornea, iris, choroid, and optic nerve coloboma, retinal detachment, and mental retardation. She has also frontal bossing, prominent forehead, thick eyebrows, transverse slanting, hypertelorism, wide palpebral fissures, and nystagmus. The nose is broad, and bulbous with wide nares, and broad nasal tip. She has also low set posteriorly rotated ears, full cheeks, long philtrum, large mouth (macrostomia), gum hypertrophy, decayed teeth, high arched palate, pointed chin, short neck, low posterior hair line, partial left simian crease, and short fingers. MRI brain shows frontal polymicrogyria.This patient represents a mild case of Baraitser–Winter syndrome.