Congenital Fibrosis Of Extraocular Muscles Research Articles

Congenital Fibrosis of Extraocular Muscles: A Case Report

Unprogressive unilateral or bilateral limited ocular motility, with or without ptosis, is a hallmark of the uncommon congenital disease known as congenital fibrosis of extraocular muscle (CFEOM). Fibrosis of the extraocular muscle leads to optic nuclear dysplasia or hypoplasia and reduced ocular mobility, which in turn causes it. diverse phenotypes of illness might cause patients to report with diverse presentations.

Genetic investigation in a four-generation Chinese family with congenital fibrosis of extraocular muscles and keratoconus

Here, we have reported the genetic and clinical characteristics of four generations of a family patient from China with congenital fibrosis of extraocular muscles 1 (CFEOM1) and keratoconus (KC). The history of diseases, clinical observations, and blood samples of all family members were collected. A total of 100 healthy participants were recruited as normal controls. The whole exome sequencing of the genomic DNA and polymerase chain reaction were performed on samples obtained from the controls and their family members to verify the gene variants. The functional analyses of the variants were performed by using different software. Two single nucleotide polymorphisms were detected in the proband and other patients in his families, including a heterozygous missense variation, g.39726207C > T (c.2860C > T, p.R954W, rs121912585), in the third highly conserved coiled-coil domain of KIF21A, and a heterozygous missense variant, g.30664732A > C (c.136A > C, p.S46R, rs200111443) in TGFBR2. The variant p.R954W in KIF21A was predicted to be pathogenic using software, whereas p.S46R in TGFBR2 was predicted to be of uncertain significance (VUS). Thus, KC might have occurred in the proband and his daughter because of a combination of genetic mutations and involuntary eye rubbing induced by CFEOM1. This is the first case of concomitant KC in a family having CFEOM1. Thus, the study provides new information about patients with KC having CFEOM1. Furthermore, the study suggests that attention should be paid to the early detection and diagnosis of KC in patients with CFEOM1.

Outcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis

ObjectiveTo compare the outcome of silicone sling frontalis suspension (FS) surgery in children with simple congenital ptosis and children with complex ptosis. DesignA retrospective cohort study. ParticipantsAll pediatric patients who underwent silicone sling FS surgery between 2009 and 2020 at a single centre. MethodsPatients were divided based on etiology into simple congenital ptosis and complex congenital ptosis. Pre- and postoperative margin-to-reflex distance (MRD1) measurements were determined from clinical photographs. Main outcome measures were assessed as differences in improvement in eyelid height and reoperation rate between the groups. ResultsTwo-hundred and eight children were included: 139 simple and 69 complex cases, with 83 females (40%). Mean (±SD) age at intervention was 1.9 ± 2.9 years. Complex cases included blepharophimosis epicanthus inversus syndrome (n = 35), Marcus Gunn jaw-winking syndrome (n = 12), oculomotor palsy (n = 8), congenital fibrosis of extraocular muscles (n = 3), chronic progressive external ophthalmoplegia (n = 3), and others. Mean MRD1 improved by an average of 1.6 mm in both groups. Repeat ptosis correction was performed in 50 of 171 patients (29%) without a history of failed ptosis procedures, and this rate was similar between simple and complex cases. Children under 3 years of age had higher rates of repeat ptosis repair than older children (n = 59 of 175 [34%] vs n = 5 of 33 [15%]; p = 0.03, χ2 test). ConclusionsSilicone sling FS has a favourable outcome in 70% of pediatric patients. Preoperative and final MRD1 and reoperation rates were similar between both groups, suggesting that despite the higher complexity in atypical cases, the outcome is similar.

Pulled-in-two syndrome in strabismus surgery for congenital fibrosis of the extraocular muscles

ABSTRACT Purpose: The aim of this study is to present six cases of pulled-in-two syndrome (PITS) in strabismus surgeries and to discuss our prevention and management strategies. Methods: This is a retrospective study presenting cases of PITS during strabismus operations. The medical records of the subjects who underwent operation in the strabismus unit of Beyoglu Eye Training and Research Hospital were reviewed retrospectively, from January 2000 till March 2022. Detailed ophthalmological examination records and angle of deviation were noted. Results: A total of six cases (four males and two females) with a mean age of 37.2 ± 28.0 (min 9–max 71) years were included in this study. All of the cases had congenital fibrosis of extraocular muscles (CFEOM). The most commonly involved muscle was medial rectus (83%). Majority of cases (67%) were adults. In all cases, the muscle was found and reattached to the globe. No patients had diplopia after surgery. Conclusion: PITS is a rare complication that can be seen during strabismus surgeries, and CFEOM patients are in the risk group. Therefore, surgeons should be cautious and prepared in risky patients to be able to manage this complication.

Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders

Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteristics in a cohort of Chinese CCDDs patients. A total of 122 CCDDs patients from 96 families were enrolled. All patients showed restrictive eye movements, and 46 patients from 46 families (47.9%, 46/96) were accompanied by multiple congenital malformations.Multi-positional high-resolution MRI was performed in 94 patients from 88 families, of which, all patients had hypoplasia of the cranial nerves except HGPPS patientsand 15 patientsfrom 15 families (17.0%,15/88) were accompanied by other craniocerebral malformations. WES wasperformed in 122 CCDDspatients.Tenpathogenic variants were detected in KIF21A, TUBB3, and CHN1 genes in 43 families. Three variants were unreported, including KIF21A (c.1064T > C, p.F355S), TUBB3 (c.232T > A, p.S78T) and CHN1 (c.650A > G, p.H217R). Of the 43 probands harboring pathogenic variants, 42 were diagnosed with Congenital Fibrosis of Extraocular Muscles (CFEOM)and one was Duane Retraction Syndrome (DRS). No definite pathogenic variants in known candidate genes of CCDDs were found in sporadic DRS, Möbius Syndrome (MBS) and Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) patients. The CFEOM patients harboring R380C, E410K and R262H variants in TUBB3 gene and F355S variant in KIF21A gene exhibited syndromic phenotypes. This study broadened the phenotypic and genotypic spectrums of CCDDs, and it was the largest clinical and genetic investigation for CCDDs patients from China. KIF21A and TUBB3 were the common pathogenic genes in Chinese CFEOM. MRI coupled with WES can provide a supportive diagnosis in patients with clinically suspected CCDDs.

BILATERAL CONGENITAL PTOSIS WITH CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES (CFEOM) IN MONOZYGOTIC TWINS

Cases of congenital ptosis are rare, that too occurring in twins. We are presenting a case of mono zygotic twins with bilateral ptosis with congenital fibrosis of extraocular muscles (CFEOM). A 5-year-old boy child and his twin brother who are monozygotic twins presented with bilateral ptosis. Both children had been diagnosed as having congenital fibrosis of extraocular muscles (CFEOM). Parents have refused surgical intervention for the extraocular muscle weakness. They were advised, if the twins complained of any visual abnormality, they should be brought to the ophthalmologists for further assessment.

A rare association of congenital fibrosis of extraocular muscles with keratoconus and bilateral sensorineural hearing loss: A co-incidence or some syndrome?

Congenital fibrosis of extraocular muscles (CFEOM) is an inherited restrictive ocular motility disorder characterized by unilateral or bilateral horizontal and/or vertical gaze impairment with ptosis. Keratoconus is a bilateral asymmetrical corneal ecstatic disease with multifactorial etiology, including complex interaction of both genetic and environmental factors. We report a case of a 29-year-old female who presented with chief complaints of bilateral diminution of vision and drooping of eyelids since early childhood with a history of seizures for 1 year. Visual acuity at presentation was hand movement close to face with accurate projection of rays in both the eyes. Contrast-enhanced magnetic resonance imaging of the brain and orbit revealed partially empty sella, neurocysticercosis, and bilateral atrophy of extraocular muscles. On detailed examination, she was found to have CFEOM type 1A (CFEOM1A, autosomal dominant inheritance) with bilateral advanced keratoconus, bilateral sensorineural hearing loss, bilateral presenile cataract, and neurocysticercosis. The association of CFEOM1A, keratoconus, and sensorineural hearing loss is not reported in the literature to date. Whether this association is co-incidental or part of some new syndrome needs to be evaluated further.

A reformed “release hypothesis” for Marcus Gunn Syndrome, based on newer clinic observations and experimental evidences

Marcus Gunn Syndrome (MGS), mostly occurring in congenital ptosis patients, is characterized by jaw movement evoking ptotic eyelid retraction, followed by collapse. Inverted, bilateral and acquired MGS were also reported. Some cases manifest MGS only temporarily in life. These features suggest MGS may be due to multiple pathogeneses, which are still unclear. People also classify MGS as a kind of trigeminal oculomotor synkenesis (TOS), like Duane syndrome (DS), in which ocular adduction prompts eyelid moving or eyeball retraction. The most popular hypothesis for TOS is congenital miswiring, as evidence supporting this hypothesis is found in DS cases: hypoplasia abducens nerve fusing with a branch of oculomotor nerve is observed. Seven mutant genes have been identified associated with TOS and two of them are found among MGS cases. Accordingly, these mutant genes may dominate cranial nerve misconnection and generate TOS. However, unlike in DS case, evidence of miswiring is not encountered in most MGS cases. The fact is that two “MGS genes” are from congenital fibrosis of extraocular muscle (CFEOM) cases presenting with associated MGS. But most of MGS cases do not suffer CFEOM. Thus, mutant genes dominated congenital miswiring may not be the pathogenesis for the majority of MGS. As an alternate pathogenic pathway, a “release hypothesis” proposed that MGS is a primitive physiologic reflex that became suppressed during phylogenetic development but could be released under certain pathologic conditions. This hypothesis was and is overlooked because the hypothesized reflex arc has not been defined. Decades ago, a neural tract tracing study in Xenopus revealed a direct projection from masticator afferent mesencephalic trigeminal nucleus (Vme) neurons to oculomotor and trochlear nucleus (III/IV). In clinical studies, co-firing of pterygoid muscle and levator palpebrae was recorded by electromyography during onset of MGS, and stimulating pterygoid muscle nerve elicited eyelid retraction. Recently, retraction of the ipsilateral eyelid by stimulating the trigeminal motor root was even observed in cases without congenital ptosis and MGS, highlighting the existence of a latent pathway. In rats, recently we demonstrated projections from the Vme neurons to the III/IV, and to their premotor neurons in interstitial nucleus of Cajal by neural tract tracing and electrophysiologic studies. Fos expression in pre-oculomotor neurons was induced by repeated down stretching the lower jaw. Combining previous and our own studies, we assumed the Vme neurons is excited when jaw moves and in turn, some eyelid activity related III motoneurons are activated through projections of Vme to oculomotor system, like in Xenopus. Genetic factors may dominate to what extent this primitive reflex-arc is preserved, which consequently determines phenotype.

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

When muscle meets bone: a technique for suturing the lateral rectus muscle to the orbital wall

Lateral rectus disinsertion and reattachment to the lateral orbital wall has been previously described as a successful technique for satisfactory ocular alignment in patients with oculomotor cranial nerve paralysis and congenital cranial nerve dysinnervation disorder. We present a video of left lateral rectus disinsertion and reattachment to the lateral orbital rim combined with left medial rectus plication in a 9-year-old girl with presumed congenital fibrosis of extraocular muscles.

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant

BackgroundThe genetic basis of monocular elevation deficiency (MED) is unclear. It has previously been considered to arise due to a supranuclear abnormality.MethodsTwo brothers with MED were referred to Leicester Royal...

Management of restrictive strabismus

Aim of the study This study aimed to target a special type of strabismus, the restrictive type, with prediction of its problems, diagnostic, management, and results. Patients and methods This is a prospective randomized study performed in Alexandria. The participants of this study were 42 patients having restricted strabismus, with different diagnostic criteria, such as abnormal ocular deviation with the movement of the globe defective and not reaching the midline, abnormal position of the head, forced duction test, and anatomical changes found during surgery. Results The cases of restrictive strabismus included congenital cases including monocular elevation deficit, Brown’s syndrome, congenital fibrosis of extraocular muscles, oculomotor nerve palsy, and long-standing strabismus, especially unilateral presenting in old age. Cases needed specific diagnostic procedure such as forced duction test to be performed preoperatively and intraoperatively, and postoperative results were satisfactory in most cases except cases that underwent previous surgery with muscle resection, aggravating the condition and leading to more restrictions. Conclusion Cases of restrictive strabismus, when properly diagnosed, with special considerations, could arrive at a postoperative satisfactory outcome.

Tubulin mutations and ophthalmic manifestations: a pediatric case series

Tubulinopathies are a wide and overlapping range of brain malformations caused by six known gene mutations of different tubulin isotypes. Brain abnormalities include a range of lissencephalies and polymicrogyria-like cortical dysplasias with additional structural cerebral anomalies. Ocular findings involve associated cortical visual impairment, Congenital fibrosis of extraocular muscles (CFEOM) and associated ptosis, strabismus, and less commonly optic nerve hypoplasia. We present an observational case series of children diagnosed with a tubulinopathy, with emphasis on ophthalmic manifestations.

Scleral Perforation During Inferior Rectus Muscle Recession in Congenital Fibrosis of the Extraocular Muscles

Purpose: We report a case of a scleral perforation during inferior rectus recession in congenital fibrosis of extraocular muscles and the management of this perforation with a scleral patch graft. Case summary: A 20-month-old female with bilateral ptosis, absence of elevation and a chin-up position was diagnosed with congenital fibrosis of extraocular muscles. Because severe esotropia in the downward gaze was observed, we first performed esotropia surgery. After 1 year, she underwent a bilateral ptosis correction. We decided to perform bilateral inferior rectus recession due to an abnormal head posture and the absence of elevation. Because the inferior rectus muscles were extremely tight and adhered to the sclera, hooking and isolating these muscles during surgery was difficult. After muscle suture placement, a portion of the sclera that contacted the left inferior rectus was chipped off as this muscle was disinserted with blunt Westcott scissors. A scleral perforation was observed, thus, we placed a scleral patch graft using the donor sclera and finished the bilateral inferior rectus recession. No abnormal findings for the vitreous or retina were detected. At 8 months after surgery, the patient exhibited exotropia of 12 prism diopters in her primary gaze. Her abnormal head posture nearly disappeared. Conclusions: Careful isolation and disinsertion of the muscle from the globe is necessary in the treatment of patients who are expected to exhibit severe adhesions between the muscle and sclera, such as patients with congenital fibrosis of extraocular muscles. J Korean Ophthalmol Soc 2016;57(3):524-527

Genetics of strabismus and lid diseases.

The prevalence of congenital ocular malformations has been described to vary from 0.04 to 6.8 per 10,000 live births. The nuclear mutations identified in chronic progressive external ophthalmoplegia harbor multiple mtDNA deletions that include POLG mutations, PEO1 mutations, OPA1 mutations and RRM2B mutations. In Kearns-Sayre syndrome, the spontaneous mitochondrial deletions vary from 1.3 to 8.0 kb subunits of the oxidative phosphorylation enzymes and several t-RNA genes are affected. Oculopharyngeal muscle dystrophy is both autosomal dominant and recessive form. Congenital fibrosis of extraocular muscles (CFEOM) 1 has mutations in KIF21A on chromosome 12 with TUBB3 mutation also being seen. CFEOM 2 is an autosomal recessive, genetically distinct entity with homozygous mutations in PHOX2A. CFEOM 3 is autosomal dominant heterozygous missense mutations in TUBB3. Most cases of Mobius syndrome are sporadic with familial cases being autosomal dominant, autosomal recessive or X-linked recessive inheritance. Genetic testing has shown abnormalities involving chromosome 1 and 13. Presynaptic congenital myasthenic syndrome is caused by ChAT (choline acetyltransferase) mutation. Two loci have been found for myotonic dystrophy (DM). DM1, which is associated with trinucleotide expansion on chromosome 19q13.3 and DM2 which is associated with CCTG tetranucleotide expansion at 3q21. Blepharophimosis is caused by mutations in the FOXL2 gene 49 located at chromosome 3q23. Lymphedema-distichiasis is an autosomal dominant disorder caused by mutations in the FOXC2 gene.

Strabismus Surgery in Congenital Fibrosis of the Extraocular Muscles: A Paradigm

Background: Congenital fibrosis of extraocular muscles (CFEOM) is a rare group of disorders with variable phenotypes that result from aberrant innervation to the EOMs leading to synergistic vertical and/or horizontal deviations. We report our experience with the surgical management of patients with CFEOM.Materials and Methods: We reviewed the clinical findings, the surgical management, and outcomes of 52 consecutive CFEOM patients operated by one surgeon at a university hospital setting between 1993 and 2014. Patients were divided into CFEOM1, 2, or 3 based on clinical and/or molecular genetic findings.Results: Thirty-seven (71.2%) cases were bilateral and 15 (28.8%) were unilateral. Six of the bilateral cases had CFEOM2, and the rest of the patients had either CFEOM1 or CFEOM3. The median age at the first surgery was 10 (1–43) years. Twenty-five were females and 27 were males. Nineteen patients had previous strabismus and/or ptosis surgeries elsewhere. The mean number of operations at our center was 1.6 ± 0.7 (1–4). A temporary stay suture was used in eight patients and permanently in seven. Of the 40 patients with abnormal head position, 18 achieved excellent, 15 good, and seven poor outcomes and ocular alignment in primary position following the latest surgery was excellent in 19, good in 18, and poor in 14 of the patients, as defined in the “Methods” section of the paper.Conclusions: Although patients with CFEOM present significant strabismus surgical challenges because of EOM dysinnervation, fibrosis, and/or heterotopia, satisfactory alignment and improvement of the head posture can be attained in a significant proportion of patients using an individually tailored surgical approach.

Magnetic resonance imaging of congenital fibrosis of extraocular muscle associated with limb movement disorder in a family

Background Congenital fibrosis of extraocular muscles (CFEOM) affects patient' s appearance and quality of life,and no effective treatment for this disease is available.Imaging study is helpful for exploring the pathogenesis of CFEOM.Objective This study was to describe the characteristics of CFEOM associated with limb movement disorder using magnetic resonance imaging (MRI).Methods A family with CFEOM associated with limb movement disorder was investigated in Renmin Hospital of Wuhan University.Disease history was collected and the pedigree was investigated.Ophthalmologic examinations,including corrected visual acuity,refractive error,slitlamp examination,ophthalmoscopic examination,force of levator palpebrae superioris,ocular movement,eye position,forced duction test,and bell phenomenon examination,were performed.Ocular orbital and cranial MRI was performed in 4 CFEOM patients and 10 normal subjects to compare the structures of the extraocular muscles,motor nerve and cranium.Oral informed consent was obtained from each patient prior to any medical examination.Results A total of 1 1 members from 3 generations were investigated in this study,presenting with 4 cases of disease.The mode of inheritance of this family complied with the Mendelian autosomal dominant inheritance law.Clinical signs included disturbance of eye movement,deviation of eye position,ptosis,lack of Bell sign and positive reaction of passive pull test.In addition,unstable gait,improper body limb alignment,dysphasia and mental retardation were ohserved in 1 patient,which coincided with the diagnostic criteria of type 3 CFEOM.MRI results demonstrated that the levator palpebrae superioris,superior rectus and superior oblique muscle were clearly thinner,and the medial rectus,lateral rectus,inferior rectus muscle were thinning in the patients,showing significant differences in comparison with the normal controls(P＜O.05).The oculomotor and abducens nerves became thinner and even absent in the patients.Cranial MRI showed that Ⅲ-3 in the pedigree with callosum was shorter than that of the normal controls,suggesting that patient suffered from corpus callosum hypoplasia.Meanwhile,cranial MRI indicated the presence of cerebellar hypoplasia and the expansion of the fourth ventricle.Conclusions MRI demonstrates consistent abnormalities of the oculomotor nerves and abducens nerves in the affected individuals in this CFEOM 3 family,and some affected members exhibit two types of central nervous system abnormalities-corpus callosum and cerebellar hypoplasia.These findings suggest that CFEOM 3 is primarily a neuronal disease. Key words: Fibrosis of extraocular muscle/congenital, syndrome; Imageology; Magnetic resonance; Corpus callosum agenesis; Etiology

Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia

BackgroundMutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Mutations in the PAX6 gene are detected in the patients with congenital aniridia.Case presentationHerein we report a boy with both congenital fibrosis of extraocular muscles and aniridia. Sequence analysis of his KIF21A and PAX6 genes reveals a 1-bp deletion (c.745delC) in the PAX6 gene and a missense mutation of c.2860C > T (p.Arg954Trp) in KIF21A.ConclusionsThis study demonstrates that the occurrence of independent mutations in more than a single gene in a patient may lead to a complex phenotype.

Synergistic convergence and substituted convergence

Dear Editor, Jain et al.[1] described two intriguing cases with horizontal gaze palsy and progressive scoliosis. In the article, bilateral adduction on attempted lateral gaze was referred to by the term ‘synergistic convergence’. Bilateral deficit of abduction associated with simultaneous bilateral adduction on attempted lateral gaze has been previously referred to in different terms, including ‘synergistic convergence’ and ‘substituted convergence’.[2–4] Synergistic convergence, the term used when miosis is not present during convergence on attempted lateral gaze, has been related to peripheral causes, such as, congenital fibrosis of extraocular muscles, ocular misinnervation, or rarely, central causes like horizontal gaze palsy with progressive scoliosis, and brain stem dysplasia.[2] The term ‘substituted convergence’ has been used in earlier case reports for a convergence movement accompanied by miosis on attempted lateral gaze, in patients with pontine, cerebellar or posterior fossa lesions, and brain stem maldevelopments.[3] Presence of miosis during lateral gaze, in patients with simultaneous bilateral adduction on an attempted lateral gaze, is important for distinguishing the mechanism of this abnormal ocular movement. In the report of Jain NR et al.,[1] pupillary response to the lateral gaze in case 2 should have been pointed out, in order to understand the mechanism and to use the term ‘synergistic convergence’. The mechanism of synergistic convergence is controversial. Khan et al.[2] found normal convergence with appropriate miosis in their patient, whereas, miosis did not accompany convergence during attempted horizontal gaze; therefore, he pointed out discrete neuroanatomic localization of the three components of near triad (convergence, miosis, and accommodation). The significance of synergistic convergence was the rare glimpse of vergence dissociated from miosis, which suggested a more peripheral localization, selectively affecting vergence without pupillary involvement compared to substitution convergence. The mechanism of substituted convergence is also controversial. Leigh and Zee[4] offered a mechanism for this abnormal ocular movement in the setting of horizontal gaze, suggesting synchronized coexistance of the vergence and version system in conjugate eye movement. Lesioning of the version system can result in overactivity of the convergence system. The mechanism of convergence substitution in cases with horizontal gaze palsy with progressive scoliois (HGPPS) may be different from cases with acute pontine lesions, as presumably there is no acute disruption or injury to the underlying circuitry that is intact in convergence, but aberrant in conjugate horizontal gaze in HGPPS. The presence of miosis during lateral gaze suggests the use of the full vergence system in the absence of the version system to assist the limited gaze (adaptive phenomenon). Also, checking the amount of accommodation (myopic refractive error shifts) during substituted convergence movements should also have been determined, to confirm the use of convergence in these cases. In conclusion, the terms ‘synergistic’ or ‘substituted’ convergence should be used separately and further observations are needed to clarify the pathomechanism of those paradoxical eye movements in patients with HGPPS.

Surgical management of hypotropia in congenital fibrosis of extraocular muscles (CFEOM) presented by pseudoptosis

PurposeTo describe the demographics, characteristics, management pitfalls, and outcomes of pseudoptosis associated with congenital fibrosis of the extraocular muscles (CFEOM).MethodsA retrospective review was performed of eight patients presenting with ptosis and hypotropia to oculoplastic service. All patients underwent full ocular evaluation and magnetic resonance imaging of brain and orbit. Five of these patients underwent stepwise correction of hypotropia by single-stage adjustable strabismus surgery (SSASS), followed by a frontalis sling if needed.ResultsEight patients had congenital strabismus with severe ptosis and a positive forced duction test. There was a highly significant improvement from preoperative mean hypotropia angle of 30 prism diopters (PD) to 9 PD mean postoperative angle (P = 0.006). Surgery for ptosis was not needed in 80% of eyes.ConclusionCFEOM involving both ptosis and hypotropia could be properly managed with the correct sequence of surgical steps. Proper vertical alignment by correction of hypotropia utilizing SSASS may alleviate the need for ptosis surgery.