Lacrimal Punctum Research Articles

Eye lid and canalicular laceration due to obstetric trauma. Case report

Abstract Ocular injuries associated with birth trauma are rare. Their incidence increases in cases of instrument-assisted delivery, emergency cesarean section, and abnormal presentation of the fetus. We present the clinical case of a premature Asian male baby, aged 33 + 2 weeks and weighing 1,500 g. The infant was born out of a twin pregnancy and was delivered by emergency cesarean section. Following delivery, a 5 mm long lower eyelid laceration was observed in the inner corner of the left eye, with injury to the inferior canaliculus. A Mini-Monoka® monocanalicular intubation stent was inserted on the seventh day with anastomosis of the proximal and distal ends of the canaliculus laceration. The skin was then sutured with a polyglactin 8/0 (Vycril®) suture. The postoperative treatment consisted of tobramycin and dexamethasone eye drops four times per day for 10 days. A good progression was observed, the position of the inferior lacrimal punctum was adequate, and syringation was normal. The Mini-Monoka® was removed after 14 weeks.

Dacrocystography: a pre requisite to endoscopic dacrocystorhinostomy

<p class="abstract"><strong>Background:</strong> Dacryocystography is a simple radiological procedure in which a radiographic water-soluble dye like iohexal or neohydriol is injected into the lacrimal system and free flow of dye is noted from the eyes into the nose and any restriction in the flow of indicates obstruction and site of the same.</p><p class="abstract"><strong>Methods:</strong> This is a prospective study of role of dacryocystography in 31 cases of dacrocystitis who presented to the ENT outpatient clinic of Dayanand Medical College and Hospital over a period of 1.5 years i.e. from June 2016 to December 2017 who were planned for dacrocystorhinostomy. Patient was placed in dorsal decubitus position and local anaesthesia was administered. No. 15 catheter was connected to a syringe containing contrast medium and its ends are introduced into both lacrimal puncta. Head of the patient is fixed and the contrast medium was administered through both the puncta simultaneously and serial radiographs were obtained</p><p class="abstract"><strong>Results:</strong> The role of dye study, prior to endoscopic dacrocystorhinostomy dacrocystography was studied in 31 subjects. Of the 22 subjects who underwent surgical intervention, 18 (81.8%) had a complete obstruction while 4 (18.2%) had a partial block.</p><p class="abstract"><strong>Conclusions:</strong> Dacryocystography is a useful and cost-effective investigation to delineate the obstruction in the nasolacrimal system. It aids in confirmation of clinical diagnosis as well as making a diagnosis in doubtful cases.</p>

Laceración palpebral y canalicular asociada a trauma obstétrico. Descripción de un caso

Ocular injuries associated with birth trauma are rare. Their incidence increases in cases of instrument-assisted delivery, emergency cesarean section, and abnormal presentation of the fetus. We present the clinical case of a premature Asian male baby, aged 33+2 weeks and weighing 1,500g. The infant was born out of a twin pregnancy and was delivered by emergency cesarean section. Following delivery, a 5mm long lower eyelid laceration was observed in the inner corner of the left eye, with injury to the inferior canaliculus. A Mini-Monoka® (FCI, Issy-Les Moulineaux, France) monocanalicular intubation stent was inserted on the seventh day with anastomosis of the proximal and distal ends of the canaliculus laceration. The skin was then sutured with a polyglactin 8/0 (Vicryl 8/0, Ethicon, Johnson & Johnson S. A., Madrid, Spain) suture. The postoperative treatment consisted of tobramycin and dexamethasone eye drops four times per day for 10 days. A good progression was observed, the position of the inferior lacrimal punctum was adequate, and syringation was normal. The Mini-Monoka® was removed after 14 weeks.

Conjunctival dacryocystorhinostomy in the treatment of proximal lacrimal drainage obstruction

The problem of reconstruction of the lacrimal drainage system in cases of obliteration of both lacrimal points and/or both lacrimal canaliculi remains one of the most difficult in dacryology. The most common and effective operation for this pathology is Conjunctival dacryocystorhinostomy using tubes developed by L. Jones in 1962. However, wearing the tube for a long time and the complications associated with it can cause dissatisfaction with the treatment, even if the surgery was successful. The surgery technique and the tubes design have undergone numerous modifications to increase the amount of positive outcomes and reduce the number of complications. The results of original studies on this problem were analyzed revealing a lack of knowledge about the optimal design and material of the implant. There are few studies aimed at developing methods that ensure persistent preservation of the anastomosis after tube removal.

Ponto lacrimal duplo pode ter apresentações clínicas diferentes

In this paper, we describe two adult patients who presented with double lacrimal puncta: one of them was asymptomatic and incidentally diagnosed, and the other complained of epiphora. In both patients, unilaterality, preference for the lower lid, and location medial to the normal punctum were common features of the accessory punctum. In the asymptomatic patient, irrigation revealed no obstruction in the punctum or the nasolacrimal drainage system. By contrast, the other patient's nasolacrimal drainage system exhibited obstruction. Therefore, dacryocystorhinostomy surgery and silicone tube intubation were successfully performed. Double lacrimal puncta may be associated with epiphora or dry eye. These manifestations can easily be missed in a routine examination. This report was written to emphasize that unilateral epiphora of dry eye symptoms may be related to supernumerary punctum or canalicular systems and can easily be diagnosed with lid eversion.

Characteristics of lacrimal passage diseases by 80-MHz ultrasound biomicroscopy: an observational study

PurposeTo investigate the microstructure of the lacrimal canaliculus and the characteristics of lacrimal canalicular diseases by 80-MHz ultrasound biomicroscopy (UBM).MethodsThis study included 33 participants: 20 normal subjects (40 eyes), 2 patients with chronic lacrimal canaliculitis (4 eyes), 10 patients with chronic dacryocystitis (16 eyes), and 1 patient with lacrimal punctum atresia (2 eyes). All participants underwent 80-MHz UBM; disease-specific features were noted.ResultsOn 80-MHz UBM of the lacrimal canaliculi (vertical section) in normal subjects, low echo of the lacrimal canalicular lumen and high echo of the lacrimal canalicular wall were observed. The uniform low echo near the wall was the mucosal epithelium. The outermost layer of medium-to-high echo was the subepithelial elastic fibrous layer. In the horizontal section, the lumen was continuous. Two linear high echoes parallel to the canalicular wall could be observed at the center of the lacrimal canaliculus, which were sometimes attached and sometimes separated. When separated, the center of the lacrimal canaliculus was a low echo area (lumen). Lacrimal canaliculitis (vertical section) showed obvious ectasia of the lacrimal canalicular lumen, with a high echo mass shadow, which might have been calculi, and uneven thickness of the mucosal epithelium with a slightly high echo shadow. In the horizontal section, the lumen varied in size with clear boundaries of medium and high echoes. The central linear high echoes of the lumen were absent, and the echoes of the mucosal epithelium were discontinuous. In chronic dacryocystitis, the lacrimal canalicular lumen was extensively enlarged, with continuous echoes and uniform thickness of the mucosal epithelium and homogeneous patches of slightly higher echoes. Lacrimal punctum atresia indicated that the lacrimal canaliculus existed in both eyes and its structure was normal.ConclusionsThe 80-MHz UBM is a new non-invasive technique that can be used for clear visualization of the fine structure of the lacrimal canaliculus, including the mucosal epithelium and subepithelial elastic fiber layer. The use of this approach will improve understanding of the hierarchical structure of the lacrimal canaliculi and provide a comprehensive basis for diagnosis, differential diagnosis, and treatment plan in patients with lacrimal passage diseases.

Eyelash in lacrimal punctum: demonstrating a negative pressure in the lacrimal sac

Eyelashes are normally arranged in two or three rows on the upper and lower eyelids. They are more numerous on the upper eyelid, with approximately 150 eyelashes being present on the upper and 75 on the lower eyelid. Eyelashes, like body hair, are shed regularly every 100 to 150 days. Usually, the shed eyelashes do not cause any symptoms.
 However, the cilia may sometimes get misplaced and end up in the lacrimal puncta, meibomian gland orifice, subconjunctival space, and corneal stroma. An eyelash that gets misplaced into the punctum has the potential to cause additional problems. Once the eyelash enters the punctum, the barbs on the hair prevent it from being expelled.

A histopathological study of lacrimal puncta in patients with primary punctal stenosis

We investigated the etiology of punctal stenosis based on the histopathological features of puncta and clinical correlations in punctal stenosis patients. A retrospective review was conducted of 69 cases from 38 patients who were diagnosed with punctal stenosis. Slit-lamp examination, the lacrimal irrigation test, dacryocystography, and spectral domain-optical coherence tomography were performed for the evaluation of punctal occlusions. For treatment, punctoplasty using a punch biopsy with or without silicone tube insertion and histopathological examinations were performed. The pathological features of the punctal membranes were classified into two types of epithelia: squamous (95.7%, 66/69) and columnar (4.3%, 3/69). The squamous epithelial specimens were divided into three groups: fibrous tissue (66.8%, 48/69), goblet cells (21.8%, 48/69), and keratinization (4.3%, 3/69). Most of the subepithelial pathology was fibrosis (82.6%, 57/69), and inflammation was noted in 17.4% (12/69) of the patients. Subepithelial fibrosis was the most common pathological feature in patients exhibiting stenosis with a squamous epithelium, while inflammation was more strongly correlated with patients with a columnar epithelium. However, there was no correlation between the histopathological findings and treatment outcomes. Our histopathological findings suggest that primary fibrosis of the stenotic punctum was caused by intrinsic inflammation of the puncta rather than spreading from the conjunctiva or eyelid. Punctoplasty was effective in treating punctal stenosis, regardless of the epithelial type.

Characterizing Congenital Double Punctum Anomalies: Clinical, Endoscopic, and Imaging Findings.

To characterize the anatomical anomaly of congenital double puncta, identify factors contributing to epiphora and its treatment. Retrospective review of patients presenting with epiphora and a double lacrimal punctum over a 6-month period. Five consecutive patients (3 female) were identified. The median age was 50 years (range 34-76). Investigations included punctum optical coherence tomography, dacryocystography, and canalicular endoscopy. The medial punctum was more morphologically abnormal when compared with healthy puncta, with optical coherence tomography showing no vertical canalicular component in 80% (4/5) of patients, and a more superficial than usual horizontal canaliculus in 80% (4/5). Dacryocystography and canalicular endoscopy showed the junction of the 2 inferior canaliculi, which was very proximal in 1, mid canalicular in 2, and at the level of the common canaliculus in 2. In 1 patient, the only abnormality identified was the double lower punctum, with a high tear meniscus and delayed fluorescence dye disappearance test. They underwent endonasal dacryocystorhinostomy with improvement of epiphora. In the other 4 patients, causes of epiphora were nasolacrimal duct stenosis with mucocoele, punctal stenosis, common canalicular stenosis with nasolacrimal duct stenosis, upper canaliculitis, and blepharitis. Their treatments included endonasal dacryocystorhinostomy, punctoplasty, canaliculotomy, and blepharitis treatment. All had improvement of epiphora following treatment. These findings suggest that the underlying canalicular anomalies are varied and that the clinical manifestation is also heterogenous. Optical coherence tomography imaging suggests that the medial of the 2 puncta is the more morphologically abnormal one, with dacryocystography and canalicular endoscopy demonstrating different accessory canaliculi lengths.Double puncta coexist with a range of other nasolacrimal pathologies. OCT suggests that the medial of the 2 double puncta is the abnormal one, with DCG and endoscopy demonstrating a range of accessory canaliculus lengths.

Clinical observation on the efficacy of silicone punctal plug for the treatment of acquired lacrimal puncta stenosis

Objective To observe the clinical efficacy of silicone punctal plug for the treatment of acquired lacrimal puncta stenosis. Methods The data of 46 eyes of 23 cases with acquired lacrimal stenosis from Apr. 2017 to Apr. 2019 were analyzed retrospectively. The observation group, 23 operative eyes, received punctum dilation followed by silicone punctal plug inserted into lacrimal punctum under surgjcal microscope and silicone punctal plug extraction after 2 months. The control group, 23 non-operative eyes, treated with lacrimal point dilator and lacrimal duct irrigation once a week for 2 months. Results No complication such as displacement or exfoliation of silicone punctual plug occurred in the observation group.The cure rate at 1, 2 and 3 months after silicone punctal plug extraction were 100%, 90.5%, 80.9%, and the apparent improvement rate was 100%.In the control group, the diameter of puncta was unchanged after treatment, and the improvement rate was only 21.7%. Conclusion Silicone punctal plug for the treatment of acquired lacrimal puncta stenosis is an effective and safe procedure. Key words: Stenosis, lacrimal punctum; Plug, punctal, silicone

A preliminary study on optical coherence tomography of the lacrimal punctum in normal adults

Objective: To study the imaging characteristics and accumulate data of optical coherence tomography (OCT) of the lacrimal punctum in normal adults. Methods: From September to November 2018, 59 healthy adults (90 eyes) with normal lacrimal punctum structure were enrolled in this cross-sectional study conducted at the Lacrimal Center of Ophthalmology, Third Medical Center of PLA General Hospital, including 21 males (34 eyes) and 38 females (56 eyes), aged 18-65 years. All the subjects were examined by slit lamp microscopy to measure the maximum transverse diameter. OCT was performed to observe the inferior lacrimal punctum, including the external punctal diameter, the punctal diameter at 100 μm and 200 μm depth. The difference in the diameter of different parts of the punctum was analyzed. Independent sample t test and single factor analysis of variance were used for statistical analysis. Results: In normal adults, the maximum transverse diameter under a slit lamp was (545.6±149.3) μm, the external punctal diameter on OCT images was (548.4±130.5) μm, and the punctal width at 100 μm and 200 μm depth on OCT images was (262.8±120.8) μm and (179.2±110.0) μm, respectively. There was no significant difference between the maximum transverse diameter of the punctum under a slit lamp microscope and the OCT outer diameter of the punctum (t=0.133, P=0.894). There were significant differences between the diameter of the lacrimal punctum in the different scanning sites of the OCT (F=213.237, P<0.01). There was significant difference between the punctal width at 100 μm and the external punctal diameter on OCT images (t=15.229, P<0.01). There was significant difference between the punctal width at 200 μm and the external punctal diameter on OCT images (t=20.517, P<0.01). There was significant difference between the punctal width at 100 μm and 200 μm depth on OCT images (t=4.855, P<0.01). Conclusion: The width of different parts of the lacrimal punctum in healthy adults is different on OCT images, and the punctal width at 200 μm depth is the narrowest. (Chin J Ophthalmol, 2019, 55: 695-699).

Efficacy of application of newly designed silicone stent in the anastomosis of lacrimal canaliculus

Objective To evaluate the efficacy of application of newly designed silicone stent in the anastomosis of inferior lacrimal canaliculus. Methods The data of 45 eyes of 45 patients with inferior lacrimal canaliculus laceration from Mar. 2016 to Mar. 2018 were analgzed retrospectively. The newly designed silicone tube was implanted in the anastomosis of lacrimal canaliculus, and the broken end of the lower lacrimal canaliculus were sutured with 8-0 absorbable suture. Then the lacrimal stents were removed at 3 months after operation. The patients were followed up for 6-12 months. Results After operation, 41 patients(91.11%) were cured, 2 patients(4.44%) were improved. However, 2 patients were ineffective. The total effective rate was 95.56%. The main complications were lacrimal duct obstruction in 2 patients (4.44%) and lacrimal point tear in 1 patient (2.22%). Conclusion The newly designed silicone stent has the characteristics of simple to operate, excellent cosmetic result, safe state of catheterization and convenient to fetch tube. Key words: Anastomosis, lacrimal canaliculus; Stent, silicone, newly designed

Lower Eyelid Contour in Graves Orbitopathy

ABSTRACTPurpose: The aim of the present study was to analyze quantitively the lower lid contour of patients with Graves orbitopathy.Methods: Bézier curves were manually adjusted to the ciliated and nasal (or lacrimal) portions of the lower lid contour of 41 patients with Graves orbitopathy and 43 normal subjects using National Institute of Health (NIH) ImageJ software. Considering the main coordinates of the Bézier functions, the Matlab software was employed to express the lid contours with 1000 points. The first order numerical derivative of the curves was calculated in order to compare the curvature of the whole lid contour of patients and controls. The same comparison was made for the temporal and nasal contour segments. Other parameters measured included the location of the lowest point on the contours (contour peak); the position of the lateral and medial canthi, as well as the angle formed by the lower lacrimal punctum and the vertex of the inner canthus.Results: The curvature of the temporal portion of the lid contours of patients and controls correlated with both the height of the lateral canthus and the magnitude of the MRD2. Graves retraction affects the medial and lateral portion of the lid. Both segments were more curved in patients than in controls. The lower punctum was significantly lowered, increasing the angle between the lower punctum and the medial canthus.Conclusions: The increased lateral curvature of the lower lid seen in patients with Graves disease is a natural geometric effect of the increment of MRD2. The nasal portion of the lid is also significantly lowered by retraction.

Acquired Obliteration of the Proximal Lacrimal Drainage System.

We present a series of patients with acquired obliteration of one or more components of the proximal lacrimal drainage system, including puncta and canaliculi. This finding was noted with and without other obstructions or stenoses of the lacrimal drainage system. Review of these patients in search of possible risk factors for this condition and histopathology of two patients are presented. Medical records of patients treated at the Massachusetts Eye and Ear Infirmary between 2010 and 2016 with diagnosis codes of lacrimal punctum stenosis, stenosis of unspecified lacrimal punctum, epiphora due to insufficient drainage, and epiphora not otherwise specified were retrospectively reviewed. Patients were excluded if there was a history of congenital punctal agenesis, trauma, or any other identifiable etiology of lacrimal system obstruction. Twelve patients were identified with obliterated puncta. Most patients were female (n = 11, 91.7%) and Caucasian (n = 9, 75%). The mean age was 61 years (median 62, range 22-90 years). Clinical findings ranged from one involved punctum to all four puncta, and associated ipsilateral canalicular obstruction was noted in 4 patients (33.3%). The inferior puncta were the more frequently affected structures (61.5%) compared to the superior puncta (38.5%). Nine patients (75%) reported use of topical ophthalmic medications prior to onset of symptoms. The most frequent class of medication implicated was topical antibiotics; however, patients often used a combination of medications. In 2 cases, pathological specimens of the canaliculi revealed absence of a canalicular lumen. Although various combinations of lacrimal system stenoses and obstructions have been described, acquired punctal obliteration is an under-recognized entity. These cases differ from typical punctal stenosis in that the puncta are completely obliterated, and no indication of a punctal opening is clinically detectable. In this study, 3 patients had previously documented normal lacrimal irrigation. The ipsilateral canaliculi were also found to be obstructed in a third of patients. Two patients had complete absence of a canalicular lumen on histopathology. The predominance of inferior punctum involvement, patient history of symptom onset after ipsilateral medication use, and known prior patent irrigation in several cases support the hypothesis that these cases represent a severe yet insidious idiosyncratic reaction to topical medication.

Insertion of a preloaded Monoka™ stent for congenital nasolacrimal obstruction: Intraoperative observations. A preliminary study

To study the intraoperative deployment of a pre-loaded probe for a "pushed" monocanalicular nasolacrimal intubation. Non-randomized study of consecutive cases. Description: A classical Monoka™ silicone stent with the silicone tube attached at right angles to the punctal plug is contained entirely inside an introducer connected to a piston. Insertion: The procedure begins with intubation of the nasolacrimal duct with the metallic introducer. Traction on the piston retracts the metallic introducer inside the handpiece. This relative shortening progressively ejects the stent, starting with its free end at the bottom of the introducer. The operation was observed endoscopically under single-blind conditions. Twenty-eight preloaded Monoka™ stents were placed consecutively, in 28 congenital nasolacrimal duct intubations in 22 patients (28 sides). Endoscopic examination showed that the free part of the stent was progressively ejected from the introducer during retraction of the piston. Insertion of this pushed stent into the nasal cavity was effective in 23/28 cases (82.1%). A total of 28 preloaded stent insertions were attempted and 23 were correctly deployed. At the end of nasolacrimal duct intubation, contact between the punctal plug and the lacrimal punctum was problematic in four cases (4/28=14.2%). At the beginning of stent placement, premature ejection of the punctal plug within the end of the introducer occurred in five cases (5/28=17.8%). These five stents failed to insert properly into the nasal cavity. At the end of insertion, retention of the punctal plug in the introducer occurred in two cases (2/28=7.1%). No cases of intraoperative or postoperative epistaxis were observed. Intraoperative nasal endoscopy validated the concept of the preloaded Monoka stent and its deployment. Reproducibility and improved reliability may require a change in stenting technique and a design modification.

Dynamic optical coherence tomography imaging of the lacrimal passage with an extrinsic contrast agent.

Recently, in vivo trans-conjunctiva optical coherence tomography (OCT) imaging of the lacrimal passage was demonstrated using a turbid commercial eye drop as an extrinsic contrast agent. However, static OCT images are not sufficient to unambiguously delineate the lumen boundary to render 3D lumen images of the lacrimal passage by segmentation. The turbid eye drop is expected to include small particles that flow and undergo Brownian motion and can be used as an extrinsic contrast agent for dynamic OCT. We conducted dynamic OCT measurements of the lacrimal passage using a swept source OCT system. Firstly, characterization of the dynamic OCT properties of the eye drop was performed. For improved delineation of the lumen boundary, we calculated the sum of the squared differences of intensities with two different normalization parameters. By making composite color images from OCT images and these two dynamic OCT images, we could execute unambiguous segmentation of the lumen of the lacrimal passage. Three-dimensional volumetric images of parts of the lacrimal passage, i.e., lacrimal canaliculus and lacrimal punctum, are demonstrated.

A Simple Surgical Approach for the Management of Acquired Severe Lower Punctal Stenosis.

Purpose Evaluation of using pigtail probe to detect and open severely stenosed lower lacrimal punctum followed by self-retaining bicanalicular intubation. Study design A prospective nonrandomized clinical study. Methods The study included 24 patients with severe lower punctal stenosis (grade 0 according to Kashkouli scale) attending at Menoufia University Hospitals. The upper punctum and canaliculus were patent. All patients were complaining of epiphora and had a thorough ophthalmological examination including dye disappearance test and slit-lamp examination. Pigtail probe was used from patent upper punctum to detect the lower stenosed punctum which was opened with a scalpel. Syringing of the lower lacrimal passages was done to confirm its patency, and self-retaining silicone bicanalicular stent was inserted. The silicone tube was left in place for 6 months before it was removed. Patients were then followed-up for 1 year after the surgery. Results One year after surgery, epiphora was absent (grade 0) in 16 eyes (66.7%) and was present only occasionally (grade 1) in 4 eyes (16.7%). The difference from preoperative epiphora was statistically significant. One year after surgery, fluorescein dye disappearance time was grade 1 (<3 minutes) in 20 cases (83.3%), and grade 2 (3–5 minutes) in 4 cases (16.7%). There was a statistically significant difference compared with preoperative results. Conclusion Using the pigtail probe is effective in treatment of severe punctal stenosis. Maintaining the punctal opening and prevention of restenosis can be achieved by using self-retaining bicanalicular stent after confirmation of nasolacrimal duct patency. This trial is registered with NCT03731143.

Supernumerary punctum in upper lid: Rare presentation

A 25- year –old female presented with an unusual opening in her right upper lid. She had no other complaints. On examination two lacrimal Puncta had seen in on right upper lid. One was normal in appearance and position, other was medial to this and slit like. Probe test had showed both Puncta present on same Canaliculus. Fluorescein dye disappearance test showed rapid clearance of dye. Patient had no other complaints so, no treatment had required. Instruct the patient for manual occlusion of puncta during topical drugs administration.

Application of LY-Fr3 lacrimal duct stent in anastomosis of lacrimal canaliculus

Objective To analyze the efficacy of application of LY-Fr3 lacrimal duct stent in anastomosis of lacrimal canaliculus. Methods The data of 90 eyes of 90 patients with laceration of lacrimal canaliculus laceration were analyzed retrospectively, and all patients were treated with anastomosis and intubation of LY-Fr3 lacrimal duct stent. The follow up time was 6 months. Results The surgery time was 40 - 90 min, with average of (60.0±15.4) min. The curative rate was 90.0%, the effective rate was 96.7%. There were 14 patients (15.6%) with complications, included 11 cases of second blocking, 4 cases of anastomotic swollen, 2 cases of laceration of lacrimal punctum and 1 case of secondary dacryocystitis. The second blocking rate of patients removed the stent 3 months after surgery (32.4%) was higher than that 6 months after surgery (11.3%, P 0.05). Conclusion The appliction of LY-Fr3 lacrimal duct stent could get good effect in anastomosis of lacrimal canaliculus. Key words: Stent, duct, lacrimal, LY-Fr3; Anastomosis, laceration, lacrimal canaliculus; Complication

First reported adult patient with TARP syndrome: A case report

TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X‐linked syndrome often resulting in pre‐ or post‐natal lethality in affected males. In 2010, RBM10 was identified as the disease‐causing gene, and we describe the first adult patient with TARP syndrome at age 28 years, hereby expanding the phenotypic spectrum. Our patient had Robin sequence, atrial septal defect, intellectual disability, scoliosis, and other findings previously associated with TARP syndrome. In addition, he had a prominent nose and nasal bridge, esotropia, displacement of lacrimal points in the cranial direction, small teeth, and chin dimple, which are the findings that have not previously been associated with TARP syndrome. Our patient was found to carry a hemizygous c.273_283delinsA RBM10 mutation in exon 4, an exon skipped in three of five protein‐coding transcripts, suggesting a possible explanation for our patient surviving to adulthood. Direct sequencing of maternal DNA indicated possible mosaicism, which was confirmed by massive parallel sequencing. One of two sisters were heterozygous for the mutation. Therefore, we recommend sisters of patients with TARP syndrome be carrier tested before family planning regardless of carrier testing results of the mother. Based on our patient and previously reported patients, we suggest TARP syndrome be considered as a possible diagnosis in males with severe or profound intellectual disability combined with septal heart defect, and Robin sequence, micrognathia, or cleft palate.