Bilateral Congenital Ptosis Research Articles

How does the Surgical Repair of Ptosis Impact Refractive Error?

ABSTRACT Purpose To identify a correlation between the degree of congenital ptosis and levels of refractive error, visual stimulus deprivation and anisometropic amblyopia, and any improvement with surgical intervention. Methods A prospective investigation of 30 patients aged 3 months to 8 years, with a diagnosis of unilateral or bilateral congenital ptosis. A full orthoptic assessment and cycloplegic refraction were performed and patients requiring surgical intervention for ptosis were at surgeon discretion. Results The mean age at presentation was 27.1 months. The prevalence of amblyopia ranged from 19 to 29%. There was no significant difference in the levels of astigmatism throughout the follow-up period between patients who underwent surgical intervention and who did not. There was a significant improvement in the visual acuity of the affected eye (p = .03) and both eyes open (p = .02), in patients who did not undergo surgery. This was then repeated on patients who underwent surgical intervention which showed no significant difference in the affected eye or both eyes open; p = .27, p = .32, respectively. Conclusion There is no significant change in the levels of astigmatism in both patients who underwent surgery and those who did not. Conservative management of congenital ptosis, while counterintuitive, proves not to deleteriously affect the visual potential of these patients.

Postoperative Visual Outcome: Sling procedure with prolene sutures in children with simple congenital ptosis.

ABSTRACTObjective:To assess the visual outcome after sling procedure using prolene sutures in children with simple congenital ptosis.Methods:A descriptive case series study was performed in the Department of Ophthalmology of Jinnah Post Graduate Medical Centre, for a duration of six months in which 20 patients aged 3-10 years were selected with either unilateral or bilateral congenital ptosis. They were thoroughly examined and visual acuity and degree of ptosis were measured pre-operatively. Frontalis sling surgery was performed using prolene sutures on all patients after which their visual acuity and degree of ptosis were measured once again after three months post-operatively. Data were analyzed using SPSS version 20.0. For qualitative variables, frequency and percentages were calculated. Mean and Standard deviation was commutated for the quantitative variable.Results:The mean age of the patients was 8.15±1.75. 11 (55%) male and 9 (45%) female participants were included in the study. Visual acuity improved in all the patients with all the patients attaining a visual acuity of 6/6 (n=12, 60%), 6/9 (n=7, 35%), and 6/12 (n=1, 5%). The degree of ptosis post-operatively was not found in any patient either.Conclusion:Sling procedure helped in eliminating ptosis and improved visual acuity in patients with simple congenital ptosis.

Treatment of Congenital Ptosis in Infants With Associated Amblyopia Using a Frontalis Muscle Flap Eyelid Reanimation Technique.

To determine the efficacy of a frontalis muscle flap eyelid reanimation technique for correction of severe congenital ptosis and associated amblyopia in infants. The authors performed a retrospective chart review of patients 12 months of age or younger with unilateral or bilateral congenital ptosis and associated amblyopia or deemed at high risk for amblyopia due to visual deprivation. Following ptosis repair via a frontalis muscle flap technique, primary outcomes of postoperative eyelid position and amblyopia reversal were assessed. Seventeen eyes of 12 participants were included for study. Seven of these patients had simple congenital ptosis, and the remainder had ptosis as part of a syndrome. Nine were diagnosed with amblyopia preoperatively, and the remaining 3 were too young for acuity testing but had occlusion of the visual axis by the ptotic eyelid in primary gaze. Postoperatively, the mean margin-to-reflex distance 1 was 2.4 mm (range: 0.0-4.0), and 9 patients (75%) demonstrated no evidence of amblyopia. Only 2 patients had eyelid asymmetry greater than 2 mm, which in both cases was due to lack of frontalis activation by the patient secondary to ongoing visual impairment. The most common complication was lagophthalmos in 6 eyes (35.3%), with no significant associated surface keratopathy. The frontalis muscle flap technique may offer a new and effective approach to treating infants with severe congenital ptosis causing poor eyelid excursion and associated amblyopia while avoiding use of an implant.

A Rare Case of Twins with Bilateral Congenital Ptosis – A Case Report

Cases of congenital ptosis are rare, let alone bilateral and occurring in twins. There are many diagnostic dilemmas, often needing genetic testing and advanced imaging such as magnetic resonance imaging.This case report will look at the case of a twin with this interesting feature who are presented to a primary care clinic. It will center around how the diagnosis of congenital fibrosis of extraocular muscles was reached and what management options are available for this twin.International Journal of Human and Health Sciences Vol. 04 No. 02 April’20 Page : 142-144

Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants

The aim of this study was to report PAX6 disease-causing variants in six Czech families, to describe the associated phenotypes, and to perform functional assessment of the splice site variants. Detailed ophthalmic examination was performed. The PAX6 coding region was directly sequenced in three probands. Two probands were analysed by exome sequencing and one by genome sequencing. The effect of two variants on pre-mRNA splicing was evaluated using an exon trapping assay. Six different heterozygous PAX6 variants were identified, with c.111_120del and c.1183+1G>T being novel. Both c.1183+1G>T and c.1032+1G>A were proved to cause aberrant splicing with exon skipping and subsequent frameshift. The phenotypic features were variable between and within families. One individual, aged 31 years, presented with mild unilateral ptosis accompanied by aniridia in the right eye, partial aniridia in the left eye, and bilateral congenital cataracts, without marked foveal hypoplasia. Bilateral microcornea, partial aniridia, congenital cataracts, and a large posterior segment coloboma were found in another proband, aged 32 years. One child, aged 8 years, had bilateral high myopia, optic nerve colobomas, anterior polar cataracts, but no iris defects. Another individual, aged 46 years, had bilateral congenital ptosis, iris hypoplasia, keratopathy with marked fibrovascular pannus, anterior polar cataract, and foveal hypoplasia combined with impaired glucose tolerance. However, his daughter, aged 11 years, showed classical features of aniridia. Our study extends the genetic spectrum of PAX6 disease-causing variants and confirms that the associated phenotypic features may be very broad and different to the ‘classical’ aniridia.

SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.

Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second family, conductive hearing loss was the major clinical feature described; however, the affected persons also had ptosis. Here, we present a large family combining all three predescribed features of SIX2 gene deletion. The phenotype in four affected family members in three generations consisted of bilateral congenital ptosis, epicanthus inversus, frontonasal dysplasia with broad nasal bridge and hypertelorism, frontal bossing and large anterior fontanel in childhood, narrow ear canals, and mild conductive hearing loss with onset in childhood. Thus, the phenotypic spectrum of SIX2 haploinsufficiency is widened. Moreover, 2p21 microdeletions with SIX2 haploinsufficiency appear to lead to a recognizable phenotype with facial features resembling blepharophimosis-ptosis-epicanthus inversus syndrome.

Clinical trial comparing autogenous fascia lata sling and Gore-Tex suspension in bilateral congenital ptosis.

PurposeTo study the effect of autogenous fascia lata sling (AFLS) versus Gore-Tex suspension (GTS) regarding the functional and aesthetic outcomes in patients with bilateral congenital ptosis.Patients and methodsA prospective comparative randomized single-center study enrolled 110 patients with bilateral congenital ptosis. One group (n=55) underwent AFLS and the second group (n=55) underwent GTS. Exclusion criteria were good levator function, absent Bell’s phenomenon, and abnormal ocular motility. Follow-up period was 2 years. Functional outcome was measured from digital photos by analysis of upper eyelid margin position relative to the superior limbus and classified as very good (<3 mm), good (3–5 mm), poor (>5 mm), and recurrent. Aesthetic outcome was assessed in terms of lid contour, symmetry of eyelid height, and lid crease presence. Complications were also reported.ResultsFailure rate (recurrence and complications) was less in AFLS (P=0.035). Symmetrical lid height and good contour were more frequently attained by AFLS (P=0.007 and 0.047, respectively). However, the frequency of very good, good, poor, recurrence, lagopthalmos, ectropion, infection, and formed lid crease individually showed no statistically significant difference (P=0.252, 0.482, 1, 0.489, 0.438, 1, 0.618, and 0.506, respectively).ConclusionAFLS is a better choice in surgery for patients with bilateral congenital ptosis because it has fewer complications and a lesser recurrence rate than GTS.

Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum

We report a 3.5year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, hypertelorism, moderate mental retardation, short stature, short neck, hyperextensibility of the joints of the hands, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis.

Evaluation of Safety and Efficacy of Silicone Rod in Tarsofrontalis Sling Surgery for Severe Congenital Ptosis

To evaluate the efficacy and safety of silicone rod in tarsofrontalis sling surgery for severe congenital ptosis. A prospective, case series study was performed in 46 patients (56 eyelids) who underwent tarsofrontalis sling surgery using silicone rod for severe congenital ptosis. The efficacy of the silicone rod in tarsofrontalis sling surgery was evaluated by marginal reflex distance1 (MRD1), postoperative eyelid symmetry, and recurrence of ptosis. Safety of silicone rod was assessed by noting postoperative complications. The postoperative results were considered as good if MRD1 was 4.0 ± 0.5 mm (3.5-4.5 mm) and symmetry ≤1 mm; fair if MRD1 was 2.5 ± 0.5 mm (2-3 mm) and symmetry 1.5 to 2.0 mm; and poor if MRD1 was <2.0 mm and symmetry <2.0 mm. In cases of unilateral congenital ptosis, good results were seen in 83.3% cases, fair results in 11.1% cases, and poor results in 5.5% cases. In cases of bilateral congenital ptosis, good results were seen in 80.0% cases, fair in 15.0% cases, and poor result in 5.0% cases. Satisfactory postoperative eyelid elevation of ≥2 mm was seen in 93% cases. Complications in the form of granuloma formation, subsequent silicone rod extrusion, and recurrence occurred in 4% cases. The use of silicone rod in tarsofrontalis sling surgery for severe congenital ptosis repair is a safe and effective surgery, with few complications and easy removal and adjustment.

Comparing Open and Closed Techniques of Frontalis Suspension with Silicone Rod for the Treatment Congenital Blepharoptosis

ABSTRACTPurpose: To compare open and closed methods of the frontalis suspension operation with a silicone rod in the treatment of congenital blepharoptosis.Methods: Forty-four cases with unilateral or bilateral congenital ptosis with a poor levator function of < 4 mm were divided randomly into two groups. Each group underwent an eyelid crease incision operation (open) or a supralash stab incision (closed). Ptosis was measured by the difference between the upper eyelid margin reflex distance (MRD) of the affected eyelids of the unilateral and bilateral cases. Frequent follow-up examinations were performed up to 12 months post-surgery.Results: Associated ophthalmologic findings showed that amblyopia, strabismus, wound discharge and knot dehiscence problems were present in 36.6%, 27.3%, 8.5% and 8.5% of the patients, respectively. There was no significant difference between the abovementioned associated ophthalmic findings of the two operative methods studied (P = 0.37). The difference in the surgical methods and MRD 3, 6 and 12 months after operation did not reach statistical significance. Similar results for good MRD (3 < MRD < 5) were found in closed (54.5%, 12/22) and open (54.5%, 12/22) methods, while 40.9% (9/22) and 45.5% (10/22) of cases were attributed to the under correction group in the closed and open methods, respectively. In bilaterally operated cases, MRD was more symmetrical than in unilaterally operated eyes. The symmetry of MRD and the eyelid crease was more prevalent in the open technique group.Conclusions: The frontalis sling operation using a silicone rod exhibited better results, in terms of symmetry, in the open technique in comparison to the closed method.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include intellectual disability, microcephaly, short stature, hypotonia, hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76Mb in eight unrelated families with in total five affected males and seven affected females. All affected males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding ears and two of them showed a cleft palate. The affected females had various clinical symptoms similar to that of the males with congenital bilateral ptosis in three families as most remarkable feature. Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects.

Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser–Winter syndrome

BackgroundBaraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects. Case reportA 3.5year 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. ConclusionThis patient represents a mild case of Baraitser–Winter syndrome.

Local Anesthesia: A Feasible Option for Pediatric Frontalis Sling Surgery

The purpose of this study was to demonstrate the suitability of local anesthesia in the pediatric age group for oculoplastic procedures. The authors present a case of frontalis sling surgery performed under local anesthesia in a 15-year-old boy with bilateral congenital ptosis. No significant technical difficulties were encountered during the procedure. Optimal intraoperative eyelid placement was facilitated by the patient's comfort and cooperation. For some selected children, local anesthesia is a good alternative to general anesthesia to obtain the best outcome.

A case of A-pattern esotropia with dissociated vertical deviation with bilateral congenital ptosis

Dissociated vertical deviation (DVD) is an enigmatic strabismus entity for which various theories of causation have been proposed. Commonly seen in association with infantile esotropia, it responds unpredictably to surgical intervention hence fuelling theories for a supranuclear center defect albeit at the midbrain level. Cases of DVD associated with A- pattern eso or exotropia and superior oblique overaction have been reported, although rarely. We report a case of bilateral congenital ptosis associated with this complex. Not reported earlier, we hope this case may help in better understanding of the obscure etiology of this symptom complex.

Safety and Efficacy of Silicone Rod Frontalis Suspension Surgery for Childhood Ptosis Repair

To evaluate the safety and efficacy of silicone rod frontalis suspension surgery for childhood ptosis. The authors retrospectively studied 89 consecutive children (110 eyelids) who had silicone rod frontalis suspension surgery for ptosis at Duke University Eye Center from 1983 to 2004. Marginal reflex distance1 (MRD1) elevation of 2 mm or more (vs preoperative MRD1) was considered satisfactory. MRD1 was measured as the vertical distance from the corneal light reflex in primary gaze to the upper eyelid margin. The postoperative eyelid symmetry (< or = 1 mm = satisfactory) was the difference between the MRD1 of the surgical and fellow eyelid. Median age at surgery was 45 months (range: 3 to 223 months) and median follow-up was 17 months (range: 1 to 88 months). Ptosis types (number of eyelids) were unilateral congenital (53), bilateral congenital (30), third nerve palsy (16), Marcus Gunn jaw wink (7), trauma (2), and myasthenia gravis (2). Median MRD1 elevation was 2 mm or greater for all ptosis types, whereas satisfactory postoperative symmetry occurred in 60% of unilateral and 100% of bilateral congenital ptosis cases (last follow-up). Complications occurred in 10 eyelids (9%) and reoperation occurred in 10 eyelids (9%). The use of silicone rod frontalis suspension surgery for ptosis repair in pediatric patients is modestly effective, with few complications and easy removal and adjustment.

Recurrent Mutation of the KIF21A Gene in Japanese Patients with Congenital Fibrosis of the Extraocular Muscles

To report recurrent mutation of the KIF21A gene in three Japanese families in which some members have congenital fibrosis of the extraocular muscles type 1 (CFEOM1), and to describe the clinical characteristics of the families. Standard ocular examinations were performed on 18 normal and affected members of three unrelated families. To detect mutations, we determined the DNA sequence of exons 8, 20, and 21 and the splice sites of the KIF21A gene. All affected members had a heterozygous mutation of the KIF21A gene in exon 21 (R954W). Clinically, each patient had congenital bilateral ptosis, an infraducted primary position of each eye, and the inability to raise either eye above midline. The KIF21A gene mutation R954W was detected in the patients with CFEOM1 screened in this study, all of whom were Japanese, reflecting similar reports from Europe, America, the Middle East, and Japan. We suggest that mutations of the KIF21A gene contribute to the development of CFEOM1 regardless of ethnicity. We also found that the delimitation of the KIF21A gene mutation site enabled us to efficiently detect the KIF21A gene mutation despite the large number of KIF21A gene exons.

Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion

Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki-Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina. Mental handicap, facial dysmorphism and craniosynostosis may also be associated. We report a patient with combined WAGR and Potocki-Shaffer syndromes, and obesity. She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. A left nephroblastoma was detected at 15 months. Other features included moderate developmental delay, growth deficiency, facial dysmorphism, multiple exostoses and cranial lacunae. High-resolution and molecular cytogenetics confirmed a del(11)(p11.2p14.1) deletion with a proximal breakpoint between the cosmid DO8153 and the BAC RP11-104M24 to a distal breakpoint between cosmids CO8160 (D11S151) and F1238 (D11S1446). The deletion therefore includes EXT2, ALX4, WT1 and PAX6. This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested. Molecular and follow-up data on the original WAGRO case are briefly presented.

Familial ptotic lid elevation during ipsilateral abduction

To report and discuss the clinical findings of a 17-member family with 2 siblings who exhibit ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction. Sixteen members of the 17-member immediate family underwent ophthalmic examination. Two siblings exhibited ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction. One was bilaterally affected and the other had unilateral findings. A third sibling had isolated bilateral congenital ptosis. A fourth demonstrated classic Duane syndrome Type I in the right eye. Other family members did not have ophthalmic abnormalities. A unifying mechanism of congenital cranial dysinnervation may underlie these and similar phenotypes of oculomotor and/or abducens nerve abnormalities with or without abnormal synkinesis.

Alternating ptosis after bilateral frontalis muscle suspension for congenital ptosis

PURPOSE: To report an unusual response to bilateral frontalis suspension surgery for congenital ptosis. METHODS: Case report. RESULTS: A 6-year-old child with infantile esotropia and bilateral congenital ptosis received a homologous fascia lata frontalis suspension. After surgery, the patient exhibited an alternating ptosis, caused by alternating unilateral frontalis muscle contraction, which has persisted throughout 3 years of postoperative observation. CONCLUSION: Symmetric frontalis muscle activation may not always occur after bilateral frontalis muscle suspension surgery for congenital ptosis. Amblyopia, strabismus, or fixation preference may predispose patients to use unilateral brow elevation, despite bilateral frontalis muscle suspension surgery.

X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition

AIMSTo characterise the inheritance of ptosis in one particular pedigree.METHODSThe pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the...