Congenital Orbital Fibrosis With Spontaneous Regression of Orbital Tumor.

Congenital orbital fibrosis (COF) is a rare disorder characterized by an infiltrating orbital mass with secondary involvement of the extraocular muscles that may present with extraocular muscle dysfunction, and globe and eyelid abnormalities in infancy. This condition is thought to be a nonprogressive process and literature on longitudinal assessment of COF is limited. The authors describe a case of COF which was followed for 15 years. The patient had stable symptoms of ocular dysmotility and ptosis but was noted to have spontaneous regression of the orbital mass on serial MRI.

Suspensión frontal con aponeurosis temporal en paciente con ptosis palpebral traumática recidivante crónica / Frontal suspension with temporal aponeurosis in a patient with chronic recurrent traumatic eyelid ptosis

La ptosis palpebral es una de las patologías más frecuentes en la consulta de oftalmología, tanto en urgencias como en el ámbito ambulatorio. El trauma del párpado superior puede provocar ptosis o retracción o una combinación de ambos. En este tipo de ptosis palpebral, su resolución mediante tratamiento quirúrgico, existiendo múltiples alternativas de procedimientos que se decidirá de acuerdo con la causas que las originan, así como la severidad de la ptosis. En este trabajo es a propósito de un caso clínico en el cual nos encontramos una paciente con ptosis palpebral traumática recidivante, utilizándose suspensión frontal con aponeurosis de músculo temporal, realizándose una variación de la técnica de Crawford disminuyendo la probabilidad de nueva recidiva

Palpebral ptosis is one of the most frequent pathologies in the ophthalmology consultation, both in the emergency room and in the outpatient setting Trauma to the upper eyelid can cause ptosis or retraction or a combination of both. In this type of eyelid ptosis its resolution by surgical treatment, there are multiple alternatives of procedures that will be decided according to the causes that originate them, as well as the severity of the ptosis, in this work is about a clinical case in which we find a patient with Recurrent Traumatic Palpebral Ptosis, using frontal suspension with aponeurosis of temporal muscle, performing a variation of the Crawford Technique decreasing the probability of recurrence.

Sphenoid sinus mucocele causing ptosis with pupil-spared ophthalmoplegia: a hint on carotid artery doppler ultrasound.

OBJECTIVE: Sphenoid sinuses mucocele (SSM) is an uncommon cause of orbital apex syndrome (OAS). Diagnosis of neurological complications in SSM might be delayed when the expansion of mucocele beyond the sinuses is not evident in conventional sinuses imaging. METHODS: We present a case of a 76-years old man with spared-pupil ophthalmoplegia associated with ptosis caused by a unilateral left SSM in which internal carotid artery Doppler ultrasound showed distal sub-occlusion waves pattern. RESULTS: Sinus occupation was noted in the magnetic resonance imaging (MRI) and was further evaluated in computed tomography (CT) scan and MR angiography. Nor CT or MR angiography showed clear evidence of neighboring structures compression. Doppler ultrasound of internal carotid showed high-resistance waveforms and decreased wave velocities helping diagnosis. Structures compression was confirmed intra-operatively and the patient was discharged asymptomatic after sphenoid sinus drainage. CONCLUSION: In this first report of carotid Doppler ultrasound findings in a patient with a neurological presentation of a sphenoid sinus mucocele, a high-resistance waveform of the internal carotid may help differentiate uncomplicated sinusitis from invasive mucocele.

Elastoma of the Orbit: A Case Report.

A 78-year-old man presenting for revision ptosis surgery was found to have an asymptomatic left inferomedial orbital mass visible below the left lower eyelid on external inspection, and subconjunctivally on examination. This was subsequently diagnosed as an isolated elastoma. A mass in a similar location was excised 60 years previously. His other ophthalmological history included stable diplopia corrected with prism, left-sided ectropion, bilateral sequential phacoemulsification, and past bilateral ptosis which has been persistent on the left side despite surgical repair and revision. His examination revealed left hypertropia but was otherwise largely unremarkable. However, imaging demonstrated the soft tissue lesion abutting the left globe. An anterior orbitotomy was performed, and the lesion was biopsied and specimens sent for histopathological examination and immunohistochemistry. This is the first case of an elastoma of the orbit reported in the literature to the best of the authors' knowledge.

Congenital Conjunctival Cysts of the Orbit.

PURPOSE: To evaluate the clinical presentation, anatomical location, and histological features of congenital conjunctival cysts of the orbit. The location and the histological features of inflammation in these patients were compared with those for 293 orbital dermoid cysts. PATIENTS AND METHODS: Retrospective review of the clinical details, imaging, and histopathology for patients who had excision of conjunctival cysts from their orbit between 1992 and 2020; patients with a history of trauma or surgery were omitted. RESULTS: Twelve patients (7 male; 58%) with congenital conjunctival cysts were identified, the patients presenting at an average age of 16 years (median 26; range 1-61) with a symptoms for a mean duration of 20 months (median 24; range 6-36). The commonest symptoms were peribulbar lump (6/12 patients; 50%), and eyelid swelling and blepharoptosis (6/12 patients; 50%). An orbitaxl mass was palpable in 10 patients (83%), 3 patients (25%) had mild proptosis (1-3 mm), and the cysts were most commonly located superiorly (6/12 patients; 50%) or superonasally (3/12; 25%) in the anterior half of the orbit. Imaging was performed in 7 cases, this showing an intimate relation to the common sheath of the superior rectus/levator complex in 3 patients (25%) and to the trochlea in 1 (8%). All cysts were excised completely, and no patient had postoperative complications or recurrence. Chronic mild and nonspecific inflammation was evident within the cyst wall in 7 cases (54%), but-unlike 55% of the 293 dermoid cysts-none showed granuloma formation. CONCLUSION: Congenital conjunctival cysts are rare and usually present with a palpable mass in the upper eyelid sulcus. A significant proportion of these cysts have an intimate relationship with the trochlea, or the superior rectus, levator palpebrae or superior oblique muscles and, to minimize the risk of postoperative diplopia or ptosis, particular care must be exercised during surgery.

Factors that influence the postoperative upper eyelid position following surgery for involutional blepharoptosis.

External levator advancement is commonly performed for involutional blepharoptosis repair; however, it is difficult to predict the postoperative upper eyelid position (UEP) accurately in blepharoptosis surgery. The purpose of this study was to determine the factors that influence postoperative UEP following surgery for involutional blepharoptosis. We retrospectively studied 40 Japanese women (80 eyelids) who underwent bilateral external levator advancement surgery. We used digital analysis software to measure the UEP and the eyebrow position from straight-gaze view photographs. Statistical analysis was performed to determine the correlation between postoperative UEP and related factors, including age, levator function, amount of levator advancement, anatomical fixed position, and preoperative and intraoperative UEP. We also compared UEP changes in mild, moderate, and severe ptosis groups. Levator function affected both preoperative and postoperative UEP. The amount of levator advancement and the anatomical fixation position on the aponeurosis did not affect the postoperative UEP. However, both preoperative (r = 0.49) and intraoperative (r = 0.55) UEPs affected the postoperative UEP. In cases of severe ptosis, there was significant re-drooping after surgery, while in cases with mild ptosis, the intraoperative eyelid position was maintained or slightly elevated. In involutional blepharoptosis, the degree of preoperative and intraoperative UEP contributed to the postoperative eyelid position. These data suggested that the levator muscle function is a major contributing factor in the pathogenesis of involutional blepharoptosis.

Epiphora before and after upper eyelid functional blepharoplasty: A retrospective cohort study.

Epiphora and dermatochalasis are common presentations in the ophthalmology clinic. To evaluate the change of epiphora before and after functional blepharoplasty, this retrospective cohort study reviewed 39 medical records of epiphora patients who underwent upper blepharoplasty. Severity of epiphora using MUNK score was collected and compared between before and at 6 months after blepharoplasty. The analysis model was performed to measure tear breakup time (TBUT) and frequency of artificial tears use. Subgroups of subjects before blepharoplasty to short baseline TBUT (≤ 10 seconds) and long TBUT (≥ 10 seconds) were also evaluated for the MUNK score change. From the analysis of 39 patients, the results showed a statistically significant decrease in post blepharoplasty MUNK score compared to the baseline (all P < 0.001). There was no significant difference between baseline and post-operative TBUT (P > 0.05). Twenty patients were in the short TBUT group and 19 in the long TBUT group. The reduction of MUNK score after blepharoplasty in the short TBUT group was not different to the long TBUT group (P = 0.50, 95% CI -0.84 to 0.41). However, in short TBUT group, frequency of artificial tears use after surgery was less than pre-operation. From the study, upper eyelid blepharoplasty might be one technique reducing the bothersome epiphora in dermatochalasis patients.

Disseminated lymphoblastic lymphoma revealed by an isolated third cranial nerve palsy.

Dysfunction of the third cranial nerve can be provoked by a number of different conditions. An isolated cranial neuropathy as a first clinical sign of a non-Hodgkin lymphoma is very infrequent. We represent here an atypical case of lymphoblastic lymphoma revealed by an isolated third cranial nerve palsy. The patient was managed by alternating cycles of cyclophosphamide, vincristine, and prednisone. She made a full recovery with a complete resolution of the symptomatology.

CHARGE syndrome without colobomas: Ophthalmic findings.

To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. In our cohort, all patients had a positive CHD7 mutation, in addition to a clinical diagnosis. 19.4% (13/67) of CHARGE patients did not have a coloboma in either eye. 69.2% (9/13) had strabismus, 76.9% (10/13) had a refractive error that warranted refractive correction, 23.1% (3/13) had amblyopia, 38.5% (5/13) had nasolacrimal duct obstruction, 30.8% (4/13) had dry eye syndrome and exposure keratopathy, 15.4% (2/13) had ptosis, 15.4% (2/13) had blepharitis, 15.4% (2/13) had Cortical Visual Impairment, 7.7% (1/13) of patients had optic nerve drusen, 7.7% (1/13) had Marcus Gunn Jaw Winking, and 7.7% (1/13) with an eyelid nevus. There are numerous ophthalmic findings in individuals with CHARGE Syndrome without colobomas. No study to date has evaluated the ophthalmic findings in CHD7 positive CHARGE patients without colobomas. These findings need to be assessed and treated to ensure optimal vision in the CHARGE patient population. Absence of coloboma does not rule out a diagnosis of CHARGE syndrome, and if there is a clinical suspicion, clinical confirmation then genetic testing would be warranted.

Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia.

BACKGROUND: Wnt signaling pathway plays an important role in promoting ostergenesis. WNT1 mutations have been considered as a major cause of ostergenesis imperfect (OI). We identified an OI patient with pathogenic consanguineous-derived homozygous WNT1 missense mutation. METHODS: We designed and applied a panel of known 261 genes associated with hereditary bone diseases for targeted next-generation sequencing to examine clinically diagnosed OI patients. Detected mutations were confirmed by Sanger sequencing. RESULTS: The female proband presented with severe OI with low bone density, multiple long bone fractures, short stature, and absence of dentinogenesis imperfect and brain malformation. She had congenital ptosis and exotropia with her left eye, and absence of blue sclera. The proband came from a consanguineous family and had a homozygous WNT1 missense mutation (c.677C>T, (p.S226L)). In addition, three other compound heterozygous mutations (c.1729C>T in FKBP10, c.1958A>C in FGFR3, c.760G>C in TRPV4) were also detected in her family members. CONCLUSION: We report the first identified case of consanguineous derived homozygous WNT1 mutation leading to severe osteogenesis imperfecta with congenital ptosis and exotropia.

Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.

3MC syndromes are rare heterogeneous autosomal recessive conditions previously designated as Mingarelli, Malpuech, Michels, and Carnevale syndromes, characterized by dysmorphic facial features, facial clefts, growth restriction, and intellectual disability. 3MC is secondary to mutations in the MASP1, MASP3, COLEC11, and COLEC10 genes. The number of patients with 3MC syndrome with known mutations in the COLEC11 or MASP1 is, to date, less than 50. At the time this case presented (2015), the only gene identified in Online Mendelian Inheritance in Man to be associated with 3MC syndrome was MASP1. We present, to the best of our knowledge, the first prenatal report of 3MC syndrome, secondary to a homozygous variant in MASP1. Fetal findings included bilateral cleft lip and palate, abnormality of the sacral spine, a right echogenic pelvic kidney, and brachycephaly. 3MC syndrome should be considered as part of the differential diagnosis when fetal ultrasound detects facial clefts and spinal defects, as the risk of recurrence is significant and a molecularly confirmed diagnosis allows for alternate reproductive options.

[Clinical histopathologic characteristics of lacrimal glands in lacrimal gland prolapse with blepharochalasis].

Objective: To analyze the clinical histopathologic characteristics of lacrimal glands and possible mechanisms of lacrimal gland prolapse in blepharochalasis (BC). Methods: A case-controlled study of 23 consecutive patients with prolapse of lacrimal glands in BC was performed. All samples were obtained during surgery from the Department of Ophthalmology, Beijing Tongren Hospital, Capital Medical University between January 2009 and December 2016. The lacrimal tissue included prolapsed lacrimal glands (30 samples) and controls from the donors in the eye bank of Beijing Tongren Hospital, Capital Medical University (8 samples). Hematoxylin-eosin staining, special staining, immunohistochemistry and colloidal gold-labeled pre-embedded indirect immunogold electron microscopy (Gold-IIEM) were performed to analyze the histopathologic characteristics of the samples. The nonparametric Wilcoxon signed-ranks test was carried out for statistical analysis. Results: Among the 23 patients with lacrimal gland prolapse in BC, there were 3 males and 20 females. The mean age of morbidity was 11 years old (7-16 years). In the 8 normal control cases, 3 males and 5 females were included. The mean age was 15 years (10-20 years). In the 30 prolapsed lacrimal gland samples, hematoxylin-eosin staining showed enlargement of glandular lumina accompanied by inflammatory infiltrates of interstitial tissue in 2 samples. Marked loosening of collagen fibers of the obtainable lacrimal fascia was observed. The results on immunohistochemical staining demonstrated an increased level of immunocytes in the 30 prolapsed lacrimal gland samples, including IgA (+++, ++, +, -; 12, 11, 4, 3 vs. 0, 0, 1, 7; Z=-3.892), CD3(+)T cells (+++, ++, +, -; 2, 19, 7, 2 vs. 0, 0, 1, 7; Z=-4.168), matrix metalloproteinase (MMP)-3 (+++, ++, +, -; 0, 0, 11, 19 vs. 0, 0, 0, 8; Z=-2.005) and MMP-9 (+++, ++, +, -; 14, 14, 0, 2 vs. 0, 0, 0, 8; Z=-4.552) (all P<0.05). IgG, IgM, CD20 and C1-inhibitor were either absent or expressed at background level in the 30 prolapsed lacrimal gland samples (all P>0.05). Gold-IIEM showed zymogon granules in lacrimal glands were out of shape. MMP-3 and MMP-9 colloidal gold particles existed on the zymogon granules, and MMP-3 colloidal gold particles also existed on the surface of lacrimal gland epithelial cells. Conclusions: The histopathological changes in the lacrimal glands of lacrimal gland prolapse with BC include inflammatory infiltration, elastic fiber degeneration, marked loosening of the supporting fascia tissue, and an increased level of immunocytes, including IgA, CD3(+)T cells, MMP-3 and MMP-9. The results suggest that lacrimal gland prolapse with BC may result in the immuno-pathogenetic mechanisms with the involvement of cell-mediated immune responses. (Chin J Ophthalmol, 2020, 56: 205-210).

Primary Lash Ptosis.

INTRODUCTION: Lash ptosis is often an overlooked sign that may coexist with congenital and acquired blepharoptosis. This is a report of case series of patients presented in an oculoplastic clinic with visual field loss associated with lash ptosis. On examination, the primary pathology was attributed to lash ptosis dehiscence. METHODS: All patients underwent anterior lamellar repositioning and were followed for an average of 15 (10-24) months. RESULTS: All patients had resolution of visual field loss and heaviness of eyelids. CONCLUSIONS: Lash ptosis is associated with abnormalities such as floppy eyelid syndrome. However it may be a primary condition, with no background eyelid pathology and no external explanation for the eyelash ptosis. The condition might result from anatomical changes in the orbicularis oculi, Riolan's muscle, and tarsal plate. Patients in this series complained of upper lid visual field restriction. Anterior lamellar repositioning resulted in complete resolution of complaints. Additional studies are needed to learn about the pathophysiology of this entity.

Orbital Septum Fibrosis in Congenital Ptosis Correlates With Eyelid Function: A Clinicopathologic Study.

PURPOSE: Congenital ptosis can threaten visual function and is usually treated with surgical correction. This study tests the hypothesis that congenital ptosis involves not only the levator muscle but also the orbital septum, which may tether the eyelid in the primary position. METHODS: A retrospective chart review was performed on 30 patients (41 eyelids) with congenital ptosis who underwent surgical correction that included partial septum excision. Histologic analysis was performed by a masked pediatric pathologist, with grading of septal tissue disorganization and fibrosis based on standard histologic criteria. An independent comparison of histologic grading with clinical ptosis measures was then performed. RESULTS: Fifteen eyelids demonstrated significant septal fibrosis, 19 were mild, and 7 were not fibrotic. Thirty-six eyelids demonstrated histologic disorganization. Mildly fibrotic eyelids were found to have reduced preoperative levator function than those that were not fibrotic (2.84 ± 1.92 vs. 9.57 ± 4.76 mm; p < 0.0001). Samples that demonstrated significant fibrosis were also found to have reduced preoperative levator function (4.67 ± 2.12 vs. 9.57 ± 4.76 mm; p = 0.0007). Histologically disorganized samples were also found to have a lower preoperative levator function (9.50 ± 6.04 vs. 3.99 ± 2.49; p = 0.0052). CONCLUSIONS: Orbital septae in patients with congenital ptosis demonstrate histologic disorganization and fibrosis. When decreased levator function is observed clinically, septal fibrosis and/or disorganization is likely present. These observations suggest that debulking the fibrotic septum during congenital ptosis surgery may improve outcomes by releasing the eyelid from its congenitally tethered position, improving eyelid elasticity.

Surgical Predictors of Reduced Marginal Reflex Distance After Upper Blepharoplasty.

PURPOSE: Ptosis may occur in certain cases after upper blepharoplasty. The authors aim to characterize the incidence of postoperative marginal reflex distance (MRD1) reduction after upper blepharoplasty and surgical variables that may predict this occurrence. METHODS: In this cross-sectional study, patients > 18 years old undergoing upper blepharoplasty were screened. Patients were excluded if they had any history of ptosis and brow surgery. Data regarding the excision of skin, muscle, fat, and brow fat as well as crease formation were documented. The distance in millimeter from the center of the pupil to the upper eyelid margin in the midpupillary line (MRD1) was measured digitally. The primary outcome measure was a postoperative reduction in MRD1 of >1 mm. Secondary outcome was overall mean change in MRD1 and the incidence of ptosis as defined by a final MRD1 ≤ 2.5 mm. RESULTS: The final sample consisted of 100 patients (200 eyelids) and the mean age was 55.8 years. There were 65 patients with orbicularis muscle removal, 52 patients with postseptal fat removed, and 9 patients with crease formation. Overall 15 patients developed MRD1 decrease of greater than 1 mm (5 bilaterally and 10 unilaterally) with 7 eyes demonstrating a final MRD1 of ≤ 2.5 mm. In multivariate modeling, muscle removal was found to be the only variable with significant impact on the development of MRD1 reduction > 1 mm after upper blepharoplasty (p < 0.05, odds ratio = 8.2). The other variables did not significantly contribute. The overall mean (SD) MRD1 was 3.43 mm (1.1) preoperatively and 3.62 mm (1.1) postoperatively (p < 0.01). CONCLUSIONS: Fifteen percent of patients demonstrated a reduction in MRD1 > 1 mm after upper eyelid blepharoplasty, and those with orbicularis resection were more likely to experience this change.The authors' study demonstrates a 15% incidence of postoperative MRD1 reduction after upper eyelid blepharoplasty. Orbicularis oculi muscle removal was significantly associated with this occurrence.

[Pathological features of levator aponeurosis in patients with involutional blepharoptosis].

Objective: To observe pathological features of levator aponeurosis in patients with involutional ptosis. Methods: A prospective study. Twenty-nine consecutive patients with involutional blepharoptosis who underwent levator aponeurosis advancement surgery for blepharoptosis correction were enrolled at Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University from 2007 to 2013. Twenty-nine specimens of the levator aponeurosis were obtained during surgery. Hematoxylin-eosin staining, Van Gieson staining, Masson staining, immunohistochemistry and transmission electron microscope observations were performed to observe the features of levator aponeurosis. Twelve normal specimens of fresh levator aponeurosis were obtained from Beijign Tongren Eyebank as control group. Mann-Whitney's U-test and multiple linear regression were used for statistical analysis. Results: Among the enrolled cases, there were 19 males and 10 females;14 cases were diagnosed with moderate ptosis and 15 cases with severe ptosis;9 cases involved with both eyes, 9 cases with right eyes, and 11 cases with left eyes. The mean age was 59 years. Among the 12 normal cases, there were 5 males and 7 females. The mean age was 56 years. Histopathological observation showed fascicle disruption(+++, ++, + 24, 2, 3 vs. 0, Z=-5.666, P<0.001), scarcity of cross-striations(+++, ++, + 23, 2, 4 vs. 0, Z=-5.582,P<0.001), collagen fibers hyperplasia(+++, ++, + 15, 10, 4 vs. 0, Z=-5.223,P<0.001), fatty infiltration(+++, ++, + 24, 5, 0 vs. 0, Z=-5.671,P<0.001), and a decrease of myoglobin expression(+++,++,+,- 9, 1, 1, 15 vs. 8, 1, 0, 0, Z=-3.004, P=0.005) in levator aponeurosis. Transmission electron microscope recorded presence of collagen fiber hyperplasia and cellular degeneration including mitochondria swelling and hyperplasia, vacuoles, lipid droplets, nucleus pycnosis, chromosome condensation, disintegrated organelles, myeloid body and autophagy. Multivariate linear regression showed a correlation between fat infiltration and age(ß=0.425, P=0.043) while suspicious related clinical features as independent variables and observed histopathological features as dependent variables. Conclusion: The levator aponeurosis appears to be involved with muscle fiber degeneration, collagen fiber hyperplasia and cellular degeneration in patients with involutional blepharoptosis. (Chin J Ophthalmol, 2018, 54: 671-677).