Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia.

Despite the advent of genomic sequencing, molecular diagnosis remains unsolved in approximately half of patients with Mendelian disorders, largely due to unclarified functions of noncoding regions and the difficulty in identifying complex structural variations. In this study, we map a unique form of central iris hypoplasia in a large family to 6q15-q23.3 and 18p11.31-q12.1 using a genome-wide linkage scan. Long-read sequencing reveals a balanced translocation t(6;18)(q22.31;p11.22) with intergenic breakpoints. By performing Hi-C on induced pluripotent stem cells from a patient, we identify two chromatin topologically associating domains spanning across the breakpoints. These alterations lead the ectopic chromatin interactions between APCDD1 on chromosome 18 and enhancers on chromosome 6, resulting in upregulation of APCDD1. Notably, APCDD1 is specifically localized in the iris of human eyes. Our findings demonstrate that noncoding structural variations can lead to Mendelian diseases by disrupting the 3D genome structure and resulting in altered gene expression.

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.

[Primary stromal cyst of the iris: case report].

Primary stromal cysts of the iris are rare, often asymptomatic, and incidentally found entities. Treatment is usually indicated in cases of enlargement or complications. However, imaging tests are required to determine their cystic nature and make an accurate differential diagnosis with malignant tumors, as well as for long-term follow-up. Ultrasound biomicroscopy is the technique of choice, although in most centers anterior segment optical coherence tomography is a more accessible and available imaging modality. We present a case of primary stromal cyst of the iris with an atypical presentation to illustrate the diagnosis and initial follow-up using anterior segment optical coherence tomography and photographs, and the management of complications. Anterior segment optical coherence tomography may be useful in the initial study and follow-up of anterior non-pigmented lesions where the cyst can be fully seen.

Spontaneous collapse of an iris stromal cyst in a young child.

A 4-month-old girl was referred for evaluation of an anterior chamber cyst in the left eye. Examination under anesthesia (EUA) revealed a large iris stromal cyst in the anterior chamber involving the angle and the pupillary border, with touch of the corneal endothelium and anterior lens capsule. Intraocular pressure was normal. There was no anisometropic refractive error by retinoscopy. Close observation with amblyopia management was recommended as the pupil was only partially occluded by the cyst, and there was a clear red reflex around the cyst. Repeat EUA 6 months following diagnosis showed spontaneous collapse of the cyst. There was no recurrence noted at her most recent follow-up, 2 years after presentation, and most of the pupillary axis remains unobstructed by the cyst. The patient continues to be followed to monitor for possible cyst progression, anisometropia, and development of amblyopia. Though rare, spontaneous resolution of an iris stromal cyst may occur and thus, observation may be considered, particularly if the cyst is not causing anterior segment complications or obstruction of the visual axis.

Fuchs' uveitis syndrome: a 20-year experience in 466 patients.

Fuchs Uveitis Syndrome (FUS), also known as Fuchs Heterochromic Iridocyclitis, is a chronic form of uveitis characterized by mild inflammation primarily affecting one eye. This study aimed to investigate the clinical and epidemiological features of FUS in an Iranian population. A retrospective analysis was conducted on 466 patients diagnosed with FUS at an ophthalmology center affiliated with Isfahan University of Medical Sciences between 2003 and 2021. The Kimura et al. criteria were used for FUS diagnosis. Demographic data, clinical characteristics, misdiagnosed cases, concurrent diseases, and associated ocular findings were analyzed. The study included 507 eyes of 466 FUS patients, with a mean age of 34.01 ± 11.25 years. Iris atrophy, keratic precipitates, and vitritis were common clinical findings. Heterochromia was an infrequent feature. Initial misdiagnosis occurred in 13 patients, with pars planitis being the most common incorrect diagnosis. Toxoplasmosis and multiple sclerosis were common concurrent diseases. Pediatric FUS cases were noted, possibly attributed to early-onset manifestations. Differences in clinical characteristics were observed when compared to other populations. This study provides insights into the clinical and epidemiological aspects of FUS in an Iranian population. Variations in clinical features, misdiagnosis patterns, and concurrent diseases were noted. Attention to specific clinical parameters can aid in accurate FUS diagnosis. Understanding these differences contributes to a better understanding of FUS presentation and its relationship with other diseases.

Bilateral acute depigmentation of the iris (BADI) and bilateral acute iris transillumination (BAIT): A case series from a center in Brazil.

Bilateral acute depigmentation of the iris and bilateral acute iris transillumination (BAIT) are similar clinical entities. The former causes acute-onset depigmentation of the iris stroma without transillumination, whereas the latter causes depigmentation of the iris pigment epithelium with transillumination. The etiopathogenesis of these conditions is not yet fully understood, but the proposed causes include the use of systemic antibiotics (especially moxifloxacin) and viral triggers. We present a case series of five female patients with a mean age of 41 (32-45) years, all of whom suffered acute onset of bilateral pain and redness of the eyes after moxifloxacin use (oral or topical). It is important for ophthalmologists to be aware of the two forms of iris depigmentation since this case series suggests that SARS-CoV-2 or its empirical treatment with moxifloxacin may trigger iris depigmentation. If this is the case, clinicians will likely see increased incidences of bilateral acute depigmentation of the iris and bilateral acute iris transillumination during and after the COVID-19 pandemic.

Leukocoria Due to Persistent Hyperplastic Primary Vitreous.

This case report discusses a diagnosis of persistent hyperplastic primary vitreous presenting as leukocoria in a boy aged 50 days.

Iris atrophy following intracameral dexamethasone injection: a report of two pediatric cases.

We report 2 pediatric cases of iris atrophy that developed roughly 1 month after intracameral injection of dexamethasone suspension 9% following unilateral goniotomy and cataract extraction.

Bilateral total iris atrophy, corneal decompensation and glaucoma following bilateral cosmetic artificial iris implantation: A case report of severe sequela and successful management.

PURPOSE: Cosmetic iris implants have a record of high ocular complications and are no longer in use. These complications include glaucoma, corneal decompensation, iris atrophy, uveitis, cataract and retinal detachment. CASE PRESENTATION: We report a case of a 44-year-old lady presented with bilateral total iris atrophy, glaucoma and corneal decompensation after cosmetic artificial iris implantation. The patient underwent bilateral artificial iris removal, glaucoma drainage device for the right eye, and micropulse laser for the left eye. In addition, she underwent phacoemulsification with iris-diaphragm intraocular lens implant for the right. The cornea of the right eye ended up with successful Boston keratoprosthesis after rejection of previous 2 grafts. CONCLUSIONS: To the best of our knowledge, we describe the first report of bilateral total iris atrophy following a cosmetic iris implant accompanied by bilateral glaucoma and corneal decompensation.

A case report of iridoschisis and cataract: a challenging diagnosis.

PURPOSE: To report the cataract surgery of a 79-year-old female patient with iridoschisis and senile nuclear cataracts. OBSERVATIONS: Ophthalmologic examination of the 79-year-old female patient who came to our clinic with complaints of decreased vision in the right eye was observed to have a grade-3 senile nuclear cataract and iridoschisis in quadrants 2-3, 4-7, and 10-11 of the iris in the right eye and a grade-2 senile nuclear cataract and iridoschisis in quadrants 5-7 in the left eye to a lesser extent compared to the right eye. The iris fibrils were not connected to the corneal endothelium. A safe surgical area was created by administering the viscoelastic material several times during cataract surgery. CONCLUSIONS AND IMPORTANCE: Although iridoschisis has a low incidence rate, it is important to also consider comorbid ocular pathologies when treating iridoschisis patients. Since cataract surgery for these patients is more specialized than for uncomplicated cases, the necessary surgical planning must be paid due diligence.

Phacoemulsification combined with goniosynechialysis versus phacoemulsification alone for patients with primary angle­closure disease: A meta-analysis.

This meta-analysis aims to systematically compare the efficacy between phacoemulsification (PE) combined with goniosynechialysis (GSL) and PE alone for primary angle-closure disease (PACD) patients. All the data were searched from the PubMed, EMBASE and the Cochrane Library. The Cochrane Handbook was used to evaluate the quality of the included studies. Additionally, this meta-analysis was performed by using the Revman 5.4 software. Nine randomized controlled trials (RCTs) were included in this study. Compared with PE alone group, PE+GSL could result significant reduction in the IOP (MD, 1.81; p = 0.002). In the instrumental subgroup, also more reduction of IOP was shown in the PE+GSL group (MD, 2.11; p = 0.02). In the viscogonioplasty (VGP) subgroup, there was not no statistical difference between PE alone group and PE+GSL group (MD, 1.53; p = 0.11). Also, more reduction of peripheral anterior synechiae (PAS) was shown in the PE+GSL group (MD,59.15; p<0.00001). For the change in angle open distance (AOD)500, AOD 750, trabecular-iris space (TISA)500, number of glaucoma medications and best corrected visual acuity (BCVA), there was no difference between two groups (p = 0.25, 0.35, 0.17, 0.56, 0.08). For TISA 750, more improvement was shown in the PE+GSL group (p<0.00001). Instrumental separation had better effect on lowering IOP when it combined with PE. Both instrumental separation and VGP could reduce postoperative PAS. The operation of GSL has no obvious effect on postoperative vision.

Follow-Up of Bilateral Iridoschisis in a Patient With Alport Syndrome.

This case report discusses the long-term follow-up of a patient with bilateral iridoschisis and Alport syndrome.

A case of iridoschisis with partial lens dislocation in both eyes.

BACKGROUND: Iridoschisis is a rare condition that primarily affects individuals aged 60-70 years. The predominant characteristics of iridoschisis involve the tissue splitting and separation of the iris stromal layers, often resulting in two distinct layers and the presence of floating fibers in the anterior chamber. This article reports the case of a 48-year-old male with iridoschisis with partial lens dislocation in both eyes. CASE PRESENTATION: Trauma is the leading factor in the development of iridoschisis. However, there is no documented case of ocular trauma in the patient's medical history. Visible white atrophic fibers were observed bilaterally in the anterior iris stroma of both eyes of the individual, accompanied by a small quantity of iris tissue within the anterior chamber. In this instance, the magnitude of the iridoschisis corresponded with the degree of lens dislocation. We were apprised that the patient had regularly used a cervical massager for a prolonged period of time, positioning it upon the ocular region. Frequent stimulation of both eyes with excessive force resulted in the development of iridoschisis and the partial dislocation of the lens.During the initial surgical procedure, phacoemulsification (Phaco) was carried out on the left eye without the placement of an intraocular lens (IOL). Following a two-month interval, we proceeded with the IOL suspension. Subsequently, the right eye underwent Phaco, accompanied by the implantation of an IOL. After closely monitoring the patient's progress for two months, it was evident that their vision had significantly improved, substantiating the success of the surgical interventions. CONCLUSIONS: This finding posits that the recurrent friction applied to both eyes may induce iridoschisis and various ocular complications. In the event of ocular intricacies manifesting, expeditious medical intervention becomes imperative.

Unilateral progressive anterior iris adhesions in Mowat-Wilson syndrome: a new ocular finding.

Ocular associations in Mowat-Wilson syndrome (MWS) are rare. Those involving the anterior segment are scarce in the literature. We describe a child with genetic confirmation of MWS that presented with acquired onset of unilateral anterior iris adhesions with no known trauma.

Double temporal retinochoroidal coloboma with posterior embyotoxon and persistent pupillary membrane: a case report.

Ocular colobomas are typically located in the inferonasal quadrant and attributable to defective fetal fissure closure. Colobomas can, however, affect any part of the eye, from the eyelid to the optic nerve. We present the case of a 7-year-old girl with two retinochoroidal colobomas in an atypical temporal location, with associated other ocular defects.