The iridocorneal endothelial syndrome encompasses a spectrum of ocular disorders predominantly affecting one eye in young to middle-aged women, typically without a familial predisposition. The hallmark feature of iridocorneal endothelial syndrome is the migration of corneal endothelial cells towards the iridocorneal angle and onto the iris. This syndrome comprises three distinct clinical variations: progressive essential atrophy of the iris (including corectopia, iris atrophy, or iris hole), Chandler syndrome (characterized by corneal edema with mild to absent changes in the iris), and Cogan-Reese syndrome (manifesting as nodular pigmented lesions on the front surface of the iris). In cases involving corneal manifestations, such as corneal edema or decompensation, options like Descemet's stripping automated endothelial keratoplasty and Descemet membrane endothelial keratoplasty may be considered for optimal management. For instance, conditions affecting the iris, such as an iris cavity, multiple pupils, or photophobia, may make femtosecond-assisted keratopigmentation a treatment option. In cases of glaucoma secondary to iridocorneal endothelial syndrome, trabeculectomy with mitomycin C and the implantation of a glaucoma drainage device have been shown to reduce intraocular pressure effectively. At the same time, retrocorneal membrane interception-enhanced peripheral iridectomy has demonstrated significant efficacy.

We report the first case of concurrent iridocorneal endothelial (ICE) syndrome and keratoconus, treated successfully with Descemet's membrane endothelial keratoplasty (DMEK). A 60-year-old male presented with gradual visual deterioration in his left eye over 4 years. Best corrected visual acuity was 1.1 LogMar, with corneal stromal oedema. Hypertonic saline and systemic acyclovir provided no improvement. Further examination revealed peripheral anterior synechiae and possible ICE syndrome. Combined cataract surgery and adapted DMEK were performed, using right eye data for intraocular lens calculation. Postoperative histopathology confirmed ICE syndrome. Two months postoperatively, vision improved to 0.54 LogMar, with normal intraocular pressure and optical coherence tomography. Ten months later, unaided visual acuity reached 0.4 LogMar, with no significant changes observed in regular follow-ups. The patient remains satisfied with his vision. This case highlights the rare association of keratoconus with Chandler Syndrome and the first report of such a case where DMEK was used as management. The diagnosis of ICE syndrome complicates treatment, however, despite the challenges, DMEK demonstrated promising results for ICE-related corneal oedema in a patient with concurrent keratoconus, offering improved visual acuity and no complications.

(1) Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, the symptoms of which include both ocular and systemic abnormalities. In the studied subjects, the cornea was significantly opacified with peripheral scarring neovascularization, which is not specific to this syndrome. A suspicion of incorrect diagnosis was raised despite an initial diagnosis of a bilateral Chandler syndrome. (2) In order to provide the proper diagnosis, a DNA sequencing genetic test was conducted with three sisters carrying the presence of a genome imbalance in the FOXC1 gene. The aim of this study is to report a case of a Polish family with a novel gene mutation and its relation with ARS. (3) Our findings implicate the novel deletion of the FOXC1 gene in the pathogenesis of ARS in the affected family. The phenotypic variability observed, including differences in corneal and systemic anomalies, underscores the importance of genetic testing and suggests the influence of non-genetic factors on ARS manifestation.

Chandler syndrome (CS) is one of the iridocorneal endothelial syndromes (ICEs) with proliferation of abnormal corneal endothelial cells over the anterior chamber (AC) angle and iris, resulting in complications, for example, secondary angle closure glaucoma (SACG). We report an association between CS and nanophthalmos, highlighting diagnostic and therapeutic challenges and pathological insights. A 46-year-old female patient presented with bilateral progressive blurring of vision. Examination revealed bilateral (OU) small corneal diameter, shallow AC, closed AC angle, beaten-bronze appearance of corneal endothelium, and mild iris atrophy in the right eye (OD). Intraocular pressure was 48 mm Hg and 22 mm Hg in the OD and left eye (OS), respectively. Fundus examination revealed optic nerve head cupping. Biometry showed short axial length and microcornea OU, that is, nanophthalmos. Optical coherence tomography and visual field revealed structural and functional evidence of glaucomatous optic neuropathy. Specular microscopy demonstrated reduction of corneal endothelial cell density and the light-dark reversal characteristic of ICE. Therefore, a diagnosis of CS with SACG and nanophthalmos was made. The patient was referred to a specialized glaucoma center with recommendation of clear lens extraction and a glaucoma drainage device with retropupillary tube placement. This is the first report of an association between CS and nanophthalmos. It highlights the possibility of SACG despite evident risk factors for primary angle closure glaucoma (PACG). Furthermore, it provides a hypothesis about the etiology of ICE. The concurrence of CS and nanophthalmos suggests that a common developmental mechanism could be implicated since periocular mesenchyme, the embryological precursor of corneal endothelium, plays a role in the development of optic cup and stalk. SACG should be considered even in the presence of evident risk factors for PACG, such as nanophthalmos. Additionally, the association of nanophthalmos and CS warrants revisiting the yet inconclusive etiology of CS, where a developmental mechanism could be considered. Ameen Ismail A, El-Ruby SA. Bilateral Chandler Syndrome, Nanophthalmos, and Angle Closure Glaucoma: A Complex Presentation, Challenging Diagnosis, and Pathological Insight-A Case Report. J Curr Glaucoma Pract 2024;18(2):68-73. Iridocorneal endothelial syndrome (ICE) is a rare disorder characterized by the increased proliferation and migration of corneal endothelial cells to the iris and iridocorneal angle, leading to secondary angle-closure glaucoma, corneal edema, and atrophy of the iris. This condition is often associated with secondary glaucoma due to obstruction of the trabecular meshwork in the iridocorneal angle, the formation of peripheral anterior synechiae of the iris, or both. Patients typically present with changes in the shape of the iris, a decrease in visual acuity, blurred vision, or a combination thereof. Vision loss typically occurs due to the progression of secondary glaucoma and corneal decompensation. If left untreated, ICE can progress to blindness.  ICE is typically a unilateral disorder and more frequently affects young adults and middle-aged females. The 3 clinical variants of ICE are essential iris atrophy (EIA), Chandler syndrome (CS), and Cogan-Reese syndrome (CRS). The clinical features of EIA include iridic changes such as full-thickness holes and endothelial dystrophy (see Image. Iridocorneal Endothelial Syndrome: Essential Endothelial Syndrome). The most common variant of ICE is CS, characterized by less iridic involvement, unilateral visual impairment, iridic atrophy, corectopia, and significantly more corneal edema, epithelial bullae, and endothelial dystrophy. The CRS typically presents with nodules on the anterior surface of the iris and perhaps endothelial disease and corneal edema.

Iridocorneal endothelial (ICE) syndrome is a group of ophthalmic disorders, first reported by Eagle and Yanoff in 1979, a disease characterized by abnormalities of the iris and the corneal endothelium, and mainly occurs unilaterally in young and middle-aged women, with no family history. ICE syndrome comprises a spectrum of three clinical variants: Progressive essential iris atrophy (corectopia, iris atrophy or iris hole), Chandler syndrome (corneal oedema with mild to absent iris change), and Cogan - Reese syndrome (nodular pigmented lesion of the iris). We are presenting this case because of its rarity, diagnostic intricacy and therapeutic challenge. We report in this study a case of Essential Progressive Iris Atrophy, an Iridocorneal Endothelial Syndrome variant in a 40 years old patient, female, complaining about the shape of the pupil in the left eye, as well as photophobia in the same side.In the first evaluation, we observed visual acuity of 1.0 in both eyes.Intraocular pressure was 14 mm Hg in the right eye and 12 mm Hg in the left eye. On the biomicroscope, we had a proper right eye finding, on the left eye Iris atrophy with deformity in the direction from 12 to 6 hours. We performed gonioscopy, an ultra sound (UBM), spectral microscopy, pachymetry, OCT and Octopus perimetry. We confirmed the diagnosis of essential iris atrophy based on the clinical findings, and in abnormalities in complementary exams. Nowadays, the patient is being followed in the Ophthalmology department at JZU Brcko District Bosnia and Herzegovina.