Modern possibilities of optical reconstructive surgery in patients after removal of tumor of iridociliary zone

Choroid tumors constitute 2/3 of all intraocular tumors, out of which 23% are tumors of the iris and the ciliary body, and the rest are tumors of the choroid. After removing the tumor of the iridociliary zone (ICZ) it is necessary to perform optical reconstructive surgery to reduce light aberrations and increase visual functions. Purpose. To identify key features of the complex rehabilitation of patients after removal of the ICZ tumor. Material and methods. The clinical and functional results of the complex rehabilitation of 12 patients (12 eyes) aged from 35 to 84 years (average 66 years) were studied at least 1 year after removal of the ICZ tumor. The area of the iris defect before the reconstructive surgery ranged from 15% to 55%. Preoperative uncorrected visual acuity (UCVA) and best corrected visual acuity (BCVA) were 0.26 ± 0.19 (from 0.01 to 0.6) and 0.46 ± 0.22 (from 0.1 to 0.8) respectively. All patients were underwent phacoemulsification of cataract and implantation of the iris-lens diaphragm. Results. After the reconstructive surgery, UCVA and BCVA increased:0.5 ± 0.17 (from 0.2 to 0.7) and 0.61 ± 0.27 (from 0.3 to 0.9) respectively. Undesirable optical effects were decreased, and patients were satisfied with the cosmetic result. Conclusion. The presented algorithm of optical reconstructive surgery after removal of the ICZ tumor creates necessary conditions for increasing postoperative functional results and improving the quality of life of these patients. Key words: tumor of the iridociliary zone, iris-lens diaphragm, optical reconstructive surgery, phacoemulsification of cataract.

Secondary traumatic aniridic glaucoma: pathogenesis and treatment modalities

Ocular hypertension resulting from eye injuries occurs in 0.78–6.2%. Penetrating eye injuries rank first (22.5%), and blunt eye traumas rank second (7.65%). This paper addresses recent data on various surgical techniques for secondary traumatic aniridic glaucoma, their pros, and cons. When selecting a surgical technique, a differentiated approach should be followed depending on traumatic lesions of the anterior segment and hydrodynamics. Sometimes, implantation of a prosthetic iris device with an intraocular lens (to close iris defect and restore the diaphragmic function of the iris) triggers the onset of secondary glaucoma after iris injury. In uncontrolled intraocular pressure in the early postoperative period and preserved at least one-third of the iris, a non-penetrating deep sclerectomy can be performed. In extensive tissue damage (less than one-third of the iris is preserved), implantation of glaucoma drainage devices is a pathogenetically oriented strategy. Keywords: traumatic glaucoma, aniridia, secondary glaucoma, glaucoma surgery, prosthetic iris device with an intraocular lens. For citation: Sobolev N.P., Teplovodskaya V.V., Soboleva M.A., Sudakova E.P. Secondary traumatic aniridic glaucoma: pathogenesis and treatment modalities. Russian Journal of Clinical Ophthalmology. 2021;21(4):235–240 (in Russ.). DOI: 10.32364/2311-7729- 2021-21-4-235-240.

Formulation and Stability of Ataluren Eye Drop Oily Solution for Aniridia

Congenital aniridia is a rare and severe panocular disease characterized by a complete or partial iris defect clinically detectable at birth. The most common form of aniridia occurring in around 90% of cases is caused by PAX6 haploinsufficiency. The phenotype includes ptosis, nystagmus, corneal limbal insufficiency, glaucoma, cataract, optic nerve, and foveal hypoplasia. Ataluren eye drops aim to restore ocular surface PAX6 haploinsufficiency in aniridia-related keratopathy (ARK). However, there are currently no available forms of the ophthalmic solution. The objective of this study was to assess the physicochemical and microbiological stability of ataluren 1% eye drop in preservative-free low-density polyethylene (LDPE) bottle with an innovative insert that maintains sterility after opening. Because ataluren is a strongly lipophilic compound, the formulation is complex and involves a strategy based on co-solvents in an aqueous phase or an oily formulation capable of totally dissolving the active ingredient. The visual aspect, ataluren quantification by a stability-indicating chromatographic method, and microbiological sterility were analyzed. The oily formulation in castor oil and DMSO (10%) better protects ataluren hydrolysis and oxidative degradation and permits its complete solubilization. Throughout the 60 days period, the oily solution in the LDPE bottle remained clear without any precipitation or color modification, and no drug loss and no microbial development were detected. The demonstrated physical and microbiological stability of ataluren 1% eye drop formulation at 22–25 °C might facilitate clinical research in aniridia.

A novel variant in PAX6 as the cause of aniridia in a Chinese family

Background: Aniridia is a kind of congenital human panocular anomaly, which is related to PAX6 commonly. Methods: A Chinese Aniridia pedigree underwent ophthalmic examinations, including visual acuity, slit lamp and fundoscopy examination. The targeted next-generation sequencing of Aniridia genes was used to identify the causative mutation. Results: A novel heterozygous PAX6 nonsense mutation c.619A>T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotypes related to the novel mutation include nystagmus, iris defect, cataract and absence of macular fovea. Conclusion: The novel nonsense mutation in PAX6 was responsible for aniridia phenotype in the family. which expands the spectrum of the PAX6 mutation and its associated phenotype.

A novel variant in PAX6 as the cause of aniridia in a Chinese family

Background: Aniridia is a kind of congenital human panocular anomaly, which is related to PAX6 commonly.Methods: The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were preformed in a Chinese aniridia pedigree. The targeted next-generation sequencing of Aniridia genes was used to identify the causative mutation.Results: A novel heterozygous PAX6 nonsense mutation c.619A>T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotypes related to the novel mutation include nystagmus, iris defect, cataract and absence of macular fovea.Conclusion: The novel nonsense variation in PAX6 was the cause of aniridia in this family, which expands the spectrum of the PAX6 mutation and its associated phenotype.

Rieger’s Anomaly without Posterior Embryotoxon: A Rare Presentation

Rieger’s anomaly is a rare congenital ocular defect with autosomal dominant inheritance, characterised by dysgenesis of the anterior segment. Ocular features of typical Reiger’s anomaly include a prominent anteriorly displaced Schwalbe's line (posterior embryotoxon), iris stromal hypoplasia, corectopia, and glaucoma. An atypical presentation of Rieger’s anomaly is described in the current case report. A 26-year-old female presented with diminution of vision in right eye and mild photophobia in both eyes, since childhood. On examination, it was recognised as an atypical isolated case of Rieger’s anomaly with several classical features including segmental full thickness iris defect and ectropion uveae. This was associated with total cataract in right eye and persistent pupillary membrane in left eye, without posterior embryotoxon and glaucoma. There were no other associated ocular or systemic anomalies. Patient was operated for cataract surgery in right eye under guarded visual prognosis. The postoperative visual acuity was 3/60, signifying pre-existing amblyopia. The patient was kept on close follow-up for the development of glaucoma. This is a rare case of Anterior Segment Dysgenesis (ASD) manifesting as atypical Rieger’s anomaly without posterior embryotoxon and any systemic association, signifying the fact that posterior embryotoxon is not an essential diagnostic criterion.

Implantation of ArtificialIris, a CustomFlex® iris prosthesis, in a trauma patient with an Artisan lens

Purpose: To evaluate probable complications of ArtificialIris implantation with iris-fixated intraocular lens. Method: Development of photophobia, glare, and psychological strain during face-to-face communication in a 23-year-old man with a widespread traumatic iris defect terminate to make a decision for performing implantation an ArtificialIris (HumanOptics, Erlangen, Germany) under the remnant iris without removing the patient’s existing Artisan lens. Results: Without any intraoperative or postoperative complications, the patient’s visual acuity increased by one line, the endothelial cell loss was comparable with the cell loss associated with standard cataract surgery, and the anterior chamber depth and anterior chamber anatomy did not change. At the final follow-up examination, the mean intraocular pressure (IOP) did not differ from baseline, and we achieved high level of patient satisfaction and subjective vision improvement. We discuss the particular importance of considering the patient’s expectations, the appropriate measurements, ways to perfect color evaluation, and the types of ArtificialIris products. Conclusion: The implantation of the ArtificialIris in patients with aphakic iris-supported lenses (i.e., preexisting Artisan lenses) is a feasible approach and a useful option for patients with thin irises and iris hypoplasia who are at risk of subluxation or the dislocation of the PCIOL as well as those with sclerally fixed PCIOLs.

Complete reconstruction of anterior segment surgery for a patient with traumatic cataract and iris defects: a case report

Background: Ocular trauma has relationship with variable damage towards anterior segment or posterior segment. Among them, cornea, iris and lens are vulnerable to injury. For patients with traumatic cataract and other anterior segment trauma， complete reconstruction of anterior segment surgery can be a good option to restore patients’ anterior segment that helps them regain their vision. Case presentation: We presented a case of traumatic cataract with iris defects after explosive trauma. A surgery was done to fully reconstruct the anterior segment of the patient’s left eye including separating posterior synechia of iris, removing cataract and implantation of IOL. Postoperatively, the patient didn’t complain about photophobia anymore and the uncorrected visual acuity (UCVA) of the patient reached from counting fingers to 20/25 and remained stable on follow-up at 1 week and 1 month. Conclusion: Our case suggested the importance of completely reconstruct anterior segment for patients who have traumatic cataract with traumatic iris defects and its benefits for society. Keywords: Traumatic cataract; Traumatic iris defect; Surgery