Comparison of axial length and anterior segment parameters of patients with myopia measured using 2 fourier-domain optical coherent biometry devices.

BACKGROUND: This study assessed the agreement of ocular parameters of patients with myopia measured using Colombo intraocular lens (IOL) 2 and IOLMaster 700. METHODS: Eighty patients (male, 22; average age, 29.14 ± 7.36 years) with myopia (159 eyes) were included in this study in May 2023. The participants' axial length (AXL), central corneal thickness (CCT), lens thickness (LT), white-to-white distance (WTW), front flat (K1), steep (K2), mean (Km) corneal keratometry, astigmatism (Astig), J0 vector, and J45 vector were measured using the IOLMaster 700 and Colombo IOL 2. The measurements from both devices were compared using the generalized estimating equation, correlation analysis, and Bland-Altman plots. RESULTS: With the Colombo IOL 2, lower values for K2 and J0 (odds ratio [OR] = 0.587, p = 0.033; OR = 0.779, p < 0.0001, respectively), and larger values for WTW, Astig, and J45 (OR = 1.277, OR = 1.482, OR = 1.1, all p < 0.0001) were obtained. All ocular measurements by both instruments showed positive correlations, with AXL demonstrating the strongest correlation (r = 0.9996, p < 0.0001). The intraclass correlation coefficients for AXL and CCT measured by both instruments was 0.999 and 0.988 (both p < 0.0001), and Bland-Altman plot showed 95% limits of agreement (LoA) of -0.078 to 0.11 mm and - 9.989 to 13.486 µm, respectively. The maximum absolute 95% LoA for LT, WTW, K1, K2, and J0 were relatively high, achieving 0.829 mm, 0.717 mm, 0.983 D, 0.948 D, and 0.632 D, respectively. CONCLUSIONS: In young patients with myopia, CCT and AXL measurements obtained with the Colombo IOL 2 and IOLMaster 700 were comparable. However, WTW, LT, corneal refractive power, and astigmatism values could not be used interchangeably in clinical practice.

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings of Patients with Iridocorneal Endothelial Syndrome

This case report aims to present the findings of in vivo confocal microscopy (IVCM) and anterior segment optical coherence tomography (AS-OCT) in three patients with iridocorneal endothelial (ICE) syndrome. Three female patients 37, 50, and 57 years of age presented with complaints of unilateral visual impairment and elevated intraocular pressure (IOP). Biomicroscopy revealed unilateral pupil irregularities and anterior synechiae, and gonioscopy demonstrated synechiae in the iridocorneal angle. IOP was within normal limits with medical treatment in two patients, while one patient had an IOP of 44 mmHg despite maximal antiglaucomatous treatment. IVCM revealed large, polymorphic, and hyperreflective cells in the corneal endothelial layer of the affected eyes and normal corneal epithelium, stroma, and endothelium in the fellow eyes. AS-OCT findings were normal in healthy eyes, while the affected eye showed synechiae in the iridocorneal angle and a hyperreflective, thickened endothelial layer. The patient with refractory glaucoma underwent trabeculectomy surgery with 5-fluorouracil. In conclusion, IVCM and AS-OCT allow a detailed examination of endothelial cell abnormalities and iridocorneal membranes in ICE syndrome, which is characterized by unilateral pupil and iris irregularities and anterior synechiae mainly in women.

Anterior segment swept-source optical coherence tomography and ultrasound biomicroscopy in iris and ciliary body lesions.

OBJECTIVES: Differentiation of iris and ciliary body lesions as benign or malignant and cystic or solid is important. The aim of this study was to compare anterior segment swept-source optical coherence tomography (AS SS-OCT) and ultrasound biomicroscopy (UBM) findings in iris and ciliary body tumors. RESEARCH DESIGN AND METHODS: Forty-two eyes of 38 cases with iris and ciliary body tumors imaged with UBM and AS SS-OCT between September 2018 and September 2023 were evaluated retrospectively. RESULTS: Of 42 eyes, 14 had melanoma, 14 iris pigment epithelial (IPE) cysts, 7 nevi, 3 Lisch nodules, 2 iris stromal cysts, 1 pars plana cysts, and 1 iris mammillations. An equivalent (100%) visualization of the anterior tumor margin was obtained with both techniques. Compared to AS SS-OCT, UBM was superior for posterior margin visualization in melanocytic tumors and IPE cysts. Bland-Altman plots demonstrated good agreement between UBM and AS SS-OCT for melanocytic tumors < 2.5 mm in base diameter and < 2 mm in thickness. CONCLUSIONS: Although, UBM is the gold standard for ciliary body and iridociliary tumors. AS SS-OCT should be considered as an excellent alternative to UBM, especially in minimally elevated iris lesions.

TGFß Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage.

Purpose: Mutations in the genes encoding type IV collagen alpha 1 (COL4A1) and alpha 2 (COL4A2) cause a multisystem disorder that includes ocular anterior segment dysgenesis (ASD) and glaucoma. We previously showed that transforming growth factor beta (TGFß) signaling was elevated in developing anterior segments from Col4a1 mutant mice and that reducing TGFß signaling ameliorated ASD, supporting a role for the TGFß pathway in disease pathogenesis. Here, we tested whether altered TGFß signaling also contributes to glaucoma-related phenotypes in Col4a1 mutant mice. Methods: To test the role of TGFß signaling in glaucoma-relevant phenotypes, we genetically reduced TGFß signaling using mice with mutated Tgfbr2, which encodes the common receptor for all TGFß ligands in Col4a1+/G1344D mice. We performed slit-lamp biomicroscopy and optical coherence tomography for qualitative and quantitative analyses of anterior and posterior ocular segments, histological analyses of ocular tissues and optic nerves, and intraocular pressure assessments using rebound tonometry. Results: Col4a1+/G1344D mice showed defects of the ocular drainage structures, including iridocorneal adhesions, and phenotypes consistent with glaucomatous neurodegeneration, including thinning of the nerve fiber layer, retinal ganglion cell loss, optic nerve head excavation, and optic nerve degeneration. We found that reducing TGFß receptor 2 (TGFBR2) was protective for ASD, ameliorated ocular drainage structure defects, and protected against glaucomatous neurodegeneration in Col4a1+/G1344D mice. Conclusions: Our results suggest that elevated TGFß signaling contributes to glaucomatous neurodegeneration in Col4a1 mutant mice.

Morphological Features Among Gaussian, Sagittal, and Tangential Curvature Maps in Normal and Keratoconus Eyes Using Anterior Segment Optical Coherence Tomography.

PURPOSE: To investigate and compare the morphological features and differences among Gaussian, Sagittal, and Tangential anterior corneal curvature maps obtained with an anterior segment optical coherence tomographer combined with a Placido disc MS-39 device in keratoconus (KC) and normal eyes. METHODS: Prospective, cross-sectional study including 37 KC and 51 healthy eyes. The pattern of astigmatism and maximum keratometry (Kmax), keratometry at the thinnest point (Ktp) and 2 mm diameter (K 2mm ), and inferior-superior dioptric asymmetry values were obtained and calculated from Gaussian, Tangential, and Sagittal curvature maps using the MS-39 (CSO). RESULTS: In KC eyes, an asymmetric bowtie pattern was observed in 64.86% (24/37), 64.86% (24/37), and 0% in the Sagittal, Tangential, and Gaussian maps, respectively. In normal eyes, 51.0% (26/51), 51.0% (26/51), and 0% showed a symmetric bowtie pattern in the Sagittal, Tangential, and Gaussian maps, respectively. There was a significant difference for the variables Kmax, Ktp, and K 2mm inferior among the Gaussian, Tangential, and Sagittal maps in both normal and KC groups. Sensitivity discriminating between normal and KC eyes was 100%, 97.3%, and 90.9% and specificity was 94.1%, 100%, and 100% for Kmax coming from the Tangential, Gaussian, and Sagittal maps, respectively. CONCLUSIONS: Gaussian maps displayed significantly different morphological features when compared with Sagittal and Tangential maps in normal and KC eyes. Anterior curvature maps from Gaussian maps do not show the morphological pattern of symmetric bowtie in normal eyes nor asymmetric bowtie in KC eyes. Kmax from Gaussian maps are more specific, however less sensitive than Tangential maps in discriminating KC from normal eyes.

Repeatability assessment of anterior segment measurements in myopic patients using an anterior segment OCT with placido corneal topography and agreement with a swept-source OCT.

BACKGROUND: The precision of anterior segment biometric measurements in eyes has become increasingly important in refractive surgery. The purpose of this study is to assess the repeatability of the automatic measurements provided by a new spectral-domain optical coherence tomograph (SD-OCT)/Placido topographer (MS-39, CSO) and its agreement with a swept-source OCT (SS-OCT) biometer (CASIA SS-1000, Tomey) in patients with myopia. METHODS: The right eye of 235 subjects was scanned 3 times with both devices. The evaluated parameters included central corneal radius of the steep meridian, central corneal radius of the flat meridian, mean central corneal radius, thinnest corneal thickness, central corneal thickness, anterior chamber depth, corneal volume and diameter. The intraobserver repeatability of the MS-39 measurements was calculated using intraclass correlation coefficient (ICC), within subject standard deviation, coefficient of repeatability, coefficient of variation and repeated-measures analysis of variance of the 3 repeated measurements. The agreement between the two devices was evaluated by 95% limits of agreement (LoA). RESULTS: The majority of the parameters acquired from MS-39 showed high repeatability. The repeatability of corneal diameter was slightly lower than the other measurements, although the ICC remained high. Agreement with the CASIA SS-1000 was good, indicated by the Bland-Altman plots with narrow 95% LoA values for all parameters assessed. CONCLUSIONS: The high repeatability of automatic measurements by the new device supports its clinical application in eyes with myopia, and the good agreement between the two devices indicates they could be used interchangeably for the parameters evaluated.

Zonular instability-associated morphologic features in eyes with primary angle closure disease using the swept-source anterior segment - optical coherence tomography system.

BACKGROUND: This study aims to investigate the morphologic features of the crystalline lens in Primary Angle Closure Disease (PACD) patients with zonular instability during cataract surgery using the swept-source CASIA 2 Anterior Segment-Optical Coherence Tomography (AS-OCT) system. METHODS: A total of 398 eyes (125 PACD eyes with zonular instability, 133 PACD eyes with zonular stability, and 140 cataract patient controls) of 398 patients who underwent cataract surgery combined or not glaucoma surgery between January 2021 and January 2023 were enrolled. The crystalline lens parameters were measured by CASIA2 AS-OCT. Then, logistic regression was performed to evaluate the risk factors associated with zonular instability. RESULTS: The results revealed that PACD eyes had a more anterior lens equator position, a steeper anterior curvature of lens, shorter Axial Length (AL), shallower Anterior Chamber Distance (ACD), higher Lens Vault (LV) and thicker Lens Thickness (LT), when compared to eyes in the cataract control group. Furthermore, PACD eyes in the zonular instability group had steeper front R, front Rs and Front Rf, flatter back Rf, thicker lens anterior part thickness, higher lens anterior-to-posterior part thickness ratios, shallower ACD, and greater LV, when compared to PACD eyes with zonular stability. The logistic regression analysis, which was adjusted for age and gender, revealed that zonular instability was positively correlated with anterior part thickness, lens anterior-to-posterior part thickness ratio, and LV, but was negatively correlated with lens anterior radius and ACD. CONCLUSION: Steeper anterior curvature, increased lens anterior part thickness, higher anterior-to-posterior part thickness ratio, shallower ACD, and greater LV are the anatomic features of PACD eyes associated with zonular instability.

Postoperative Inflammation After Anterior Segment Surgery.

A 71-year-old woman had 2 months of worsening vision and pain in her right eye. Examination revealed retrocorneal plaque, peaking of the pupil, and temporal prominent scleral vessels with inferotemporal scleral thinning. What would you do next?

3D Mapping of the DMEK Detachment Area from OCT Scans of the Anterior Segment of the Eye - Clinical Applications. / 3D-Kartierung der DMEK-Abhebungsfläche aus OCT-Scans des vorderen Augensegmentes mit klinischen Anwendungen.

Graft detachment is the most common complication after Descemet membrane endothelial keratoplasty (DMEK). To assess the amount of graft detachment, precision is limited when using slit-lamp biomicroscopy. Detachment of DMEK grafts can be assessed automatically on anterior segment optical coherence tomography (AS OCT) images and allows visualization of the area and volume of detachment using 3D maps. This article provides an overview of its applications such as accurately assessing the course of natural graft attachment, identification of potential risk factors for detachment and evaluation of the long-term effect of graft detachment. The 3D map of DMEK detachment may support researchers and clinicians in precise quantification of the area and volume of graft detachment even in large data sets, and the intuitive, fast and reliable evaluation.

Comparison of Scheimpflug Corneal Tomography and Anterior Segment Optical Coherence Tomography Measurements in Corneal Cystinosis: A Case Series.

PURPOSE: To report the clinical course and compare the utility of Scheimpflug tomography (ST) and anterior segment optical coherence tomography (AS-OCT) for central corneal thickness (CCT) and corneal densitometry (CD) assessment in patients with corneal crystals owing to nephropathic cystinosis. METHODS: A retrospective chart analysis of three patients with nephropathic cystinosis and the presence of corneal cystine crystals in both eyes was performed. All patients underwent clinical examination and anterior segment photography, ST, and AS-OCT scans. Corneal densitometry was exported from built-in proprietary software for ST and from custom-made validated software for AS-OCT. Anterior segment optical coherence tomography images were rescaled to grayscale units from 0 (maximum transparency) to 100 (minimum transparency) to match built-in ST densitometry readings. Furthermore, the mean pixel intensity, representative of CD, was calculated from the pixels corresponding to the segmented cornea. RESULTS: All three patients had pathognomonic cystine crystals deposits in the cornea and were treated with cysteamine medications that resulted in clinical improvement. The CCT measured using ST exhibited a range from 560 to 958 µm. Conversely, when assessed with AS-OCT, the CCT varied within the range of 548 to 610 µm. Both examinations could be performed, but in the more severe cases, AS-OCT showed far greater utility to estimate CD. In four of six eyes examined, ST showed disproportionate CCT values, compared with the AS-OCT, whereas reliable CD measurements were only available in AS-OCT. CONCLUSION: The AS-OCT could be considered a baseline ocular measurement in cystinosis and in the evaluation of disease progression and treatment efficacy.

A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.

Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research has indeed boosted our understanding in the molecular basis of ASD and genes associated with both autosomal dominant and recessive patterns of inheritance have been described with a wide range of expressivity. Here we describe the molecular characterization of a cohort of 162 patients displaying isolated or syndromic congenital ocular dysgenesis. Samples were analyzed with diverse techniques, such as direct sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing (WES), over 20 years. Our data reiterate the notion that PAX6 alterations are primarily associated with ASD, mostly aniridia, since the majority of the cohort (66.7%) has a pathogenic or likely pathogenic variant in the PAX6 locus. Unexpectedly, a high fraction of positive samples (20.3%) displayed deletions involving the 11p13 locus, either partially/totally involving PAX6 coding region or abolishing its critical regulatory region, underlying its significance. Most importantly, the use of WES has allowed us to both assess variants in known ASD genes (i.e., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmental syndrome and Jacobsen syndrome). Our data clearly suggest that WES allows expanding the analytical portfolio of ocular dysgenesis, both isolated and syndromic, and that is pivotal for the differential diagnosis of those conditions in which there may be phenotypic overlaps and in general in ASD.

Estimation of angle parameters by ASOCT and biometric parameters by optical biometer in eyes with occludable angles and open angles.

PURPOSE: To compare anterior chamber angle (ACA) parameters measured by Anterior Segment Optical Coherence Tomography (ASOCT) and biometric parameters measured by Swept-Source (SS) OCT-based biometry among patients with suspected occludable angles and open angles. METHODS: An analytical, cross-sectional study was performed on subjects attending our ophthalmology outpatient department with suspected occludable angles (van Herick grades 0, 1, and 2) in group 1, and with open angles (van Herick grades 3 and 4) in group 2. Each subject underwent a complete ophthalmic examination to exclude any intraocular pathology like cataract. We recruited 128 eyes of 64 subjects, 34 in group 1 and 30 in group 2. Each eye was henceforth subjected to ASOCT (Spectralis, Heidelberg Engineering, Heidelberg) and SS-OCT-based optical biometry (IOL Master 700, Carl Zeiss Meditec AG). Anatomical parameters were recorded and compared between the two groups. RESULTS: The main outcome measures of the study included nine ASOCT parameters (central corneal thickness [CCT], lens vault, AOD750, ACA, TISA750 [nasal and temporal], and ACW) and five optical biometric parameters (CCT, ACD, WTW, LT, and axial length). We found a significant difference (p < 0.05) among all the anatomical parameters between the two groups, except CCT which was not significantly different (p = 0.297). CONCLUSIONS: ASOCT and SSOCT biometry overcome the challenges of gonioscopy and allow screening for angle closure disease in otherwise normal subjects. ASOCT may serve as an alternative to gonioscopy as it clearly separates occludable angles from open angles in a non-invasive and objective manner.

Rat Model of Type 2 Diabetes Mellitus Recapitulates Human Disease in the Anterior Segment of the Eye.

Changes in the anterior segment of the eye due to type 2 diabetes mellitus (T2DM) are not well-characterized, in part due to the lack of a reliable animal model. This study evaluated changes in the anterior segment, including crystalline lens health, corneal endothelial cell density, aqueous humor metabolites, and ciliary body vasculature, in a rat model of T2DM compared with human eyes. Male Sprague-Dawley rats were fed a high-fat diet (45% fat) or normal diet, and rats fed the high-fat diet were injected with streptozotocin intraperitoneally to generate a model of T2DM. Cataract formation and corneal endothelial cell density were assessed using microscopic analysis. Diabetes-related rat aqueous humor alterations were assessed using metabolomics screening. Transmission electron microscopy was used to assess qualitative ultrastructural changes ciliary process microvessels at the site of aqueous formation in the eyes of diabetic rats and humans. Eyes from the diabetic rats demonstrated cataracts, lower corneal endothelial cell densities, altered aqueous metabolites, and ciliary body ultrastructural changes, including vascular endothelial cell activation, pericyte degeneration, perivascular edema, and basement membrane reduplication. These findings recapitulated diabetic changes in human eyes. These results support the use of this model for studying ocular manifestations of T2DM and support a hypothesis postulating blood-aqueous barrier breakdown and vascular leakage at the ciliary body as a mechanism for diabetic anterior segment pathology.

Direct observation and measurement of circumlental space and its relation to anterior chamber angle characteristics in iridotomized phakic eyes with primary angle closure disease.

Primary angle closure disease (PACD) is a major cause of blindness worldwide. It has a high prevalence in East Asia, especially in China, which leads to a higher incidence of blindness than open-angle glaucoma. The aim of this study was to directly observe the circumlental space (CLS) in laser peripheral iridotomized eyes with PACD and to determine whether this structure plays a role in the pathogenesis of PACD. Fifty eyes of 50 patients with PACD, who had received laser peripheral iridotomy performed with neodymium:yttrium-aluminum-garnet were recruited from glaucoma clinics from March 2021 to May 2022, including 17 primary angle closure suspect (PACS), 16 primary angle closure (PAC) and 17 primary angle closure glaucoma (PACG). They were classified into two groups based on whether the ciliary process and the crystalline lens equator were in contact using slit-lamp photograph: the attached group and the unattached group. The demographic, clinical characteristics and anterior segment parameters measured from ultrasound biomicroscopy were compared between the attached group and the unattached group. Thirty-three eyes were assigned to the attached group and 17 eyes belonged to the unattached group. In the unattached group, the mean CLS was 0.10 ± 0.07 mm. No significant differences were identified between the different diagnosis groups in age, sex, best-corrected visual acuity, intraocular pressure, white-to-white, axial length, central corneal thickness, anterior chamber depth, flat keratometry, steep keratometry or iridotomy diameter (p > 0.05). The unattached group had shorter trabecular-ciliary process distance (p = 0.021) and larger ciliary process area (p = 0.001) compared with the attached group. Small CLS and its potential effect (partial ciliary block) might be considered as one of the mechanisms of PACD.

Atypical presentation of bilateral iridoschisis with abnormal visibility of iris vessels: Role of anterior segment optical coherence tomography.

PURPOSE: To describe clinical and anterior segment optical coherence tomography (AS-OCT) findings in a patient with bilateral iridoschisis and unilateral angle closure glaucoma (ACG) associated with abnormal visibility of iris vessels. CASE PRESENTATION: A 67-year-old male patient with a history of red and painful left eye (LE) one year earlier, presented to our ophthalmology department for a routine examination.Ophthalmic examination of the right eye revealed narrow anterior chamber with sectorial iris atrophy associated to abnormal visibility of an iris vessel. Intraocular pressure (IOP) was 12 mmHg with normal optic disc appearance. LE anterior chamber was narrow with diffuse iris atrophy and abnormal vessels visibility. IOP was 28 mmHg with an important optic disc excavation. On gonioscopy, angle was narrow without neovessels nor synechiae. AS-OCT of both eyes revealed shallow angles, iris splitting with material release in the anterior chamber, while pigmented epithelium was preservedAnti-glaucoma eye drops were prescribed and peripheral laser iridotomy was performed in both eyes with decreased IOP at 14 mmHg in the LE. CONCLUSION: Iridoschisis is a rare ocular condition characterized by a separation between the anterior and posterior layers of iris stroma with several clinical presentations, and may be associated with abnormal visibility of iris vessels in some cases. The diagnosis of iridoschisis may be challenging and AS-OCT can be a very useful tool to confirm the diagnosis in atypical presentations and to detect associated angle closure.

Toxic anterior segment syndrome (TASS): A review and update.

Toxic anterior segment syndrome (TASS) is an acute, sterile, postoperative inflammatory reaction of the anterior segment without vitreous involvement, following an uncomplicated and uneventful ocular surgery, having broad and multiple etiologies. The symptoms of decreased visual acuity and ocular discomfort generally occur within the first 12-48 h after intraocular surgery. The clinical signs include prominent limbus-to-limbus corneal edema, anterior chamber cells, aqueous flare, fibrinous inflammation, and/or keratic precipitates. There can be sight-threatening complications of TASS, such as permanent corneal decompensation, intractable glaucoma, and cystoid macular edema. The causes of TASS are emerging and being reported, so are the newer treatment options for managing the inflammation and its complications. Prevention guidelines for TASS are being updated, and a traceability system for surgical instruments and intraocular fluids used during the surgery is being perpetually developed. It is important to recognize TASS and start treatment on an immediate effect. Hereby, we review the literature on TASS, emphasizing its etiology, pathophysiology, management, prognosis, complications, and the importance of prevention as well as prompt recognition.

Portable Anterior Eye Segment Imaging System for Teleophthalmology.

Objective: This study aims to compare a new prototype for a portable anterior eye segment imaging system with the standard method for ophthalmology examination. Methods: The new imaging system consisted of two IMX219 Arducam autofocus sensors (Arducam, China, Nanjing) for Raspberry Pi V2 camera module connected to a Raspberry Pi Zero W (Raspberry Pi Foundation, UK, Cambridge) that clips to a wearable headset. The 2D videos of the anterior eye segment were recorded with the new system and a 720p FaceTime HD camera (Apple, Cupertino, CA). Afterward, ophthalmologists evaluated the videos using a standard clinical eye examination form. These evaluations were compared with the standard slit-lamp clinical assessment performed during the patient's visit. Results: Thirty-five eyes were evaluated. The sensitivity and specificity percentages were statistically significant between the two imaging modalities (P ≤ 0.001). The evaluations performed from videos obtained with the new imaging system had better sensitivity and specificity percentages overall. However, statistically significant differences were only observed in cornea, anterior chamber, iris, and lens. Conclusions: Specificity percentages were higher than sensitivity percentages in both imaging modalities, indicating that video evaluations are less accurate for pathological screening. Nevertheless, the new system evaluations were significantly better than the webcam evaluations. Translational Relevance: This study presented an alternative system to assess eye conditions for telemedicine, one that provides more details than the current standard and uses new wearable headsets technologies.

Cardiac anomalies in Axenfeld-Rieger syndrome.

Axenfeld-Rieger syndrome is a rare multi-system disorder associated with cardiac anomalies. All patients with a diagnosis of Axenfeld-Rieger syndrome were identified from our electronic medical record. Chart review was performed to document the presence and types of CHD. Out of 58 patients, 14 (24.1%) had CHD and a wide variety of cardiac lesions were identified.