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.

Assessing the corneal sub-basal nerve plexus by in vivo confocal microscopy in patients with blepharoptosis.

BACKGROUND: To assess in vivo confocal microscopy features of corneal sub-basal nerve plexus in patients with congenital or aponeurogenic blepharoptosis using a fully automated software (ACCMetrics). PATIENTS AND METHODS: This prospective study included 33 patients with blepharoptosis and 17 normal controls. The corneal sub-basal nerve plexus was assessed using in vivo confocal microscopy, and the ocular surface status was evaluated by tear break-up times. RESULTS: The mean age of 33 patients with blepharoptosis and 17 normal controls were 38.77 ± 22.81 years and 48.35 ± 17.15 years, respectively. The mean duration of blepharoptosis was 16.42 ± 15.60 years. In 13 patients with unilateral blepharoptosis, there was no significant difference between affected eyes and contralateral eyes (all ps > .05), except for wider corneal nerve fibre width (CNFW) in affected eyes (0.024 ± 0.001 versus 0.023 ± 0.001 mm/mm2, p = .021). In 20 patients with bilateral blepharoptosis, there was no significant difference between the eyes. No significant difference was detected between 19 cases with congenital blepharoptosis and 14 cases with aponeurogenic blepharoptosis. When compared with normal controls, eyes with both unilateral and bilateral blepharoptosis had significantly wider CNFW. But from the point of aetiology, only eyes with congenital blepharoptosis presented with wider CNFW (p = .001), rather than the eyes with aponeurogenic blepharoptosis (p = .093). Besides, four young patients with congenital blepharoptosis revealed very sparse sub-basal nerve plexus. CONCLUSIONS: These data suggested that corneal confocal microscopy demonstrated no significant changes in patients with blepharoptosis as compared with normal controls, except for relatively wider CNFW in congenital affected eyes. However, in some children and young adults with congenital blepharoptosis, the density of corneal sub-basal nerve plexus was evidently decreased, which needs to be cautioned when ones with congenital blepharoptosis want to take corneal surgeries or wear contact lens.Key messagesWhen compared with normal controls, no significant effect was found in the influence of blepharoptosis on the most of corneal nerve parameters, except for corneal nerve fibre width (CNFW) in the group of congenital blepharoptosis.The age of onset of blepharoptosis may influence corneal nerve fibres, so timely surgical treatment of congenital blepharoptosis is not only conducive to the development of normal vision, but also beneficial to the reduction of corneal nerve lesions to some extent.We noted that some young blepharoptosis patients revealed sparse corneal nerve, which should be taken precaution when ones with congenital blepharoptosis who want to take corneal surgeries or wear contact lens.

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.

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and Ohdo syndrome, as well as non-syndromic intellectual disability (ID) in hemizygous males. Recently, female patients with de novo missense variants and de novo protein truncating variants in MED12 were described, resulting in a clinical spectrum centered around ID and Hardikar syndrome without ID. The missense variants are found throughout MED12, whether they are inherited in hemizygous males or de novo in females. They can result in syndromic or nonsyndromic ID. The de novo nonsense variants resulting in Hardikar syndrome that is characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, are found more N-terminally, whereas the more C-terminally positioned variants are de novo protein truncating variants that cause a severe, syndromic phenotype consisting of ID, facial dysmorphism, short stature, skeletal abnormalities, feeding difficulties, and variable other abnormalities. This broad range of distinct phenotypes calls for a method to distinguish between pathogenic and non-pathogenic variants in MED12. We propose an isogenic iNeuron model to establish the unique gene expression patterns that are associated with the specific MED12 variants. The discovery of these patterns would help in future diagnostics and determine the causality of the MED12 variants.

MASP1-related 3MC syndrome in a patient from Turkey.

3MC syndrome is a rare condition manifesting with typical facial appearance, postnatal growth deficiency, skeletal manifestations, and genitourinary tract anomalies. 3MC is caused by biallelic pathogenic variants in MASP1, COLEC11, or COLEC10. Here, we report an affected subject of Kurdish origin from Turkey presenting with facial dysmorphisms, such as, hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows, umbilical hernia, and caudal appendage. These features were compatible with 3MC syndrome. Molecular analysis revealed a novel homozygous pathogenic variant, c.310C > T; p.Gln104Ter in the MASP1 gene, resulting in a premature stop codon. Few subjects with 3MC syndrome have been reported in the literature so far. Thus, detailed study of this subject contributes to the evolving clinical and genetic characterization of 3MC syndrome.

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).

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.

Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23-1p36.22. We present even more proximally located overlapping deletions from seven individuals, with the smallest region of overlap comprising 1 Mb at 1p36.13-1p36.12 (chr1:19077793-20081292 (GRCh37/hg19)) defining a new contiguous gene deletion syndrome. The characteristic features of this new syndrome are learning disability or mild intellectual disability, speech delay, behavioral abnormalities, and ptosis. The genes UBR4 and CAPZB are considered the most likely candidate genes for the features of this new syndrome.

Marcus Gunn Jaw-Winking Syndrome: a Case Report.

INTRODUCTION: Marcus Gunn syndrome is a rare phenomenon with very less number of cases reported in literature. It may be congenital or acquired. AIM: The aim of this case report was to report the clinical characteristics of Marcus Gunn patient from our Clinic. CASE REPORT: A comprehensive opthalmologic examination, CDVA (corrected distance visual acuity), fundus examination and photography, was conducted in Marcus Gunn patient. Clinical findings of patient presented as - chin positioned slightly upwards, extraocular motility normal on both eyes, cover test with normal findings, pupillary examination normal on both eyes. Left upper eyelid was in a lower position than the right one. On right eye, rima interpalpebrarum was 9 mm with upgaze of 13mm. On the left eye, rima interpalpebrarum was 5 mm with upgaze of 6 mm, and with open mouth, left rima interpalpebrarum was 10 mm. Visual acuity on both eyes was 1.0. Cycloplegic refraction on both eyes was +0,75 diopters (D), and Lang test was normal. In the differential diagnosis of patients with ptosis, Marcus Gunn jaw winking syndrome should be considered especially if it improves during feeding, sucking, chewing, smiling or any kind of mouth movement. In case of ptosis always do the jaw test. Have the infant bottle-feed. An older child can chew gum. Have the patient open the mouth, move the jaw from side to side, or protrude the jaw forward. CONCLUSION: Address first to treatment of any amblyopia if present - eyeglasses, patching etc., or strabismus. Think twice before deciding to operate.

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.