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Competing Interests: Competing interests: None declared.

Competing Interests: The authors report no conflicts of interest.

A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 ( CHST6 ) mutation, confirming the diagnosis of MCD. This concurrent presence of IFC with a corneal stromal dystrophy is previously unreported in the literature, to the best of our knowledge., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: Cataract surgery in microphthalmic eyes is challenging due to anatomical restraints, hard bulky nucleus. This series aims to evaluate the safety and efficacy of couching of intraocular lens in irido-fundal coloboma with microphthalmos., Setting: Tertiary care centre in South India., Design: Retrospective non-comparative study in eyes with irido-fundal coloboma, corneal diameter < 7 mm and brown cataract. Visual acuity less than 6/60 in other eye., Methods: Anterior chamber entry made, zonules broken and lens dislocated into the vitreous cavity in a controlled manner. Baseline Clinico-demographic details, corrected distance visual acuity (CDVA), Intra-ocular pressure (IOP), corneal diameter, axial length, lens status and post-surgery CDVA, IOP and complications recorded and followed up for atleast 6 months., Results: Fifteen eyes of 15 subjects were evaluated with a mean age 49.4 ± 10.9 years. At baseline, mean IOP 14.5 ± 3.8 mmHg, mean axial length 19.3 ± 0.5 mm, mean corneal diameter was 6.5 ± 0.34 mm and CDVA 2 logMAR which improved to 1.5 logMAR at 3 months (p value 0.002). Transient spike in IOP in 33.3% subjects was medically managed with no significant difference in IOP (p > 0.05) at baseline (14.5 ± 3.8 mmHg), 3 months post-surgery (16 ± 2.8 mmHg) and 6 months post-surgery (14.9 ± 2.5 mmHg). One patient underwent re-couching. No other major complications were noted., Conclusion: Couching of cataractous lens is an effective and safe method in microphthalmic eyes with irido-fundal coloboma as last resort procedure, where no other surgical procedure may work. It provides an ambulatory gain of visual acuity in previously non-ambulatory subjects. Corneal measurements help in determining the subset of patients where couching offers viable option., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

BACKGROUND Congenital eyelid coloboma in children often faces complications such as keratitis, symblepharon, and amblyopia. Repairing defects involving at least 50% of the eyelid margin can be challenging. Acellular dermal allograft (ADA) has achieved excellent results as a substitute in adult eye plastic surgery, with minimal morbidity. This report describes a case of reconstruction of an eyelid defect in a 7-month-old male infant using an ADA. CASE REPORT A 7-month-old male infant was referred due to congenital eyelid coloboma in the left eye, which affected nearly one-half of the upper and lower eyelids medially, with more than 9 mm of lagophthalmos and lacrimal duct malformation inducing dacryocystitis. Under general anesthesia, A U-shaped silicone drainage tube was inserted in the nasolacrimal duct to ensure an unobstructed lacrimal duct. The symblepharon release, pseudopterygium excision, and medial canthus reconstruction were performed sequentially. Then, the upper eyelid defect was repaired through the advancement of the lateral segment of the eyelid, following lateral cantholysis. A trimmed ADA was placed as a substitute for the tarsal plate in the lower eyelid defect area and sutured with the free edge of the retractor. Finally, the lower and lateral skin orbicular muscle flap was advanced to cover the acellular dermis composite graft. The postoperative eyelid morphology was satisfactory. At 6 months after surgery, lower eyelid retraction gradually appeared. CONCLUSIONS ADA is presented as an effective solution for reconstructing significant eyelid defects of infants. However, the potential of postoperative eyelid retraction still deserves future research and refinement in surgical techniques.

Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204-associated clinical entity and suggests that the phenotype may also involve congenital glaucoma., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

BACKGROUND The efficacy and safety of the implantable collamer lens (ICL) in correcting high astigmatism have been previously reported. They are commonly used as an alternative to laser refractive surgery due to advantages such as leaving the cornea untouched, inducing fewer higher-order aberrations, resulting in better optical and visual quality, and it is a reversible procedure. We aim to present the outcome of ICL in managing anisometropia without cataract in an eye with unilateral lenticular coloboma. CASE REPORT A 27-year-old man with a Marfanoid body habitus was seeking refractive surgery for the correction of high astigmatism in the right eye. On presentation, the best corrected visual acuity was 20/30 and 20/20 in the right eye and left eye, respectively. Slit lamp examination indicated inferior lens coloboma extending from the 5 o'clock to the 7: 30 o'clock position in the right eye, after dilation of pupil. Following a complete refractive work-up, a toric ICL implantation was the presumed suitable surgery. Three weeks postoperatively, central vaulting was low, his ICL subluxated inferiorly, and the previously implanted temporal footplates were resting over the lenticular defect inferiorly. A high-resolution ultrasound biomicroscopy confirmed the presence of a ciliary body (CB) cyst at 9 o'clock position. Urgent explantation of the unstable ICL was performed. CONCLUSIONS This case report emphasizes the challenges and limitations associated with ICL implantation in patients with lenticular colobomas and coexisting CB cyst. Selecting smaller lenticular colobomas and avoiding direct interaction between the weak zonules area and the ICL haptics are important steps to ensure the stability of implanted lens.

Microphtalmos with orbital cyst is a rare congenital abnormality of the eye and orbit that is caused by incomplete closure of the embryonic fissure. The cysts project through in a coloboma of the affected eye. It may be sporadic or genetic. Herein, the authors present a 32-year-old mother with unilateral and her 4-month-old daughter with bilateral microphtalmos and accompanying orbital cyst., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2023 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Optic disc pits are hypothesized to form because of failure of embryonic fissure closure, which can also present with congenital defects in the choroid, RPE, and neurosensory retina. It is also associated with serous macular detachment. We present a case report of a 32-year-old man with an optic disc pit and independent choroidal coloboma below the inferior peripapillary area in the left eye, associated with macular retinoschisis with serous detachment.

Background: Scleral fistulas are known to develop following blunt trauma in patients with retinochoroidal coloboma. These cases can be managed by surgical options such as silicone buckles, or with glue and scleral patch graft. Some cases have been shown to close spontaneously. We report the first-ever case managed by vitrectomy, endophotocoagulation, and gas tamponade., Purpose: We present a rare and interesting case of an atypical choroidal coloboma with traumatic scleral fistula due to blunt trauma manifesting with hypotony-related disc edema, maculopathy, and chorioretinal folds, which was managed surgically with vitrectomy, endophotocoagulation, and gas tamponade with a good anatomical and visual outcome., Synopsis: The video contains the case description and surgical management of a traumatic scleral fistula in a patient with atypical superotemporal choroidal coloboma. The patient developed hypotonic maculopathy and disc edema after 3 months following a blunt trauma sustained in a road traffic accident. A scleral fistula was suspected at the temporal edge of the coloboma but could not be accurately localized. In addition, due to the edge effect of the coloboma, the external repair was difficult. Hence, vitrectomy with internal tamponade was attempted., Highlights: The video highlights a different surgical approach to managing a traumatic scleral fistula at the edge of a retinochoroidal coloboma. There was a risk of leakage of intravitreal fluid into the orbit through the fistula; however, the gas bubble gave a better tamponade due to higher surface tension. It sealed the fistula presumably by creating a trap-door-like effect. The endophotocoagulation helped create adhesion between the tissues at the edge of the coloboma effectively sealing it. This was followed by a rapid recovery of the hypotony-related problems with good vision. Traumatic scleral fistula, at a difficult place such as the edge of a coloboma, can be successfully closed from an internal approach with vitrectomy, endolaser, and gas tamponade., Video Link: https://youtu.be/6rxgtFyy6cw., Competing Interests: None

Significance: CHARGE, named for common findings-coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear anomalies-is a frequent etiology of deaf-blindness. A retrospective review in a pediatric low vision clinic presented the opportunity to investigate ocular findings in this syndrome with variable clinical presentations., Purpose: This retrospective study reviewed ocular findings and visual function measures from low vision evaluations of patients with CHARGE syndrome, which may influence their multidisciplinary management., Methods: A retrospective chart review was conducted by three examiners of 60 patients presenting with CHARGE syndrome at a pediatric low vision clinic. Visual acuity and contrast sensitivity were obtained using standard measures. Ocular alignment and cycloplegic refractive error measurements were recorded. Refractive findings were analyzed using vector analysis. Anterior and posterior segment findings were recorded., Results: Patients ranged in age from 1 to 29 years and were followed up for a mean of 4.3 years. Best-corrected visual acuity ranged from no light perception to 20/20 Snellen equivalent. Characteristics of strabismus, occurring in 82% of patients, were reported. Contrast sensitivity was reduced in 52% of patients. Chorioretinal colobomas were reported in 88% of patients. The most common ocular findings included nystagmus (43%), microphthalmia (27%), iris coloboma (27%), and facial nerve palsy (23%). Refractive vector analysis revealed significant myopic progression of the spherical equivalent with age and a tendency for with-the-rule astigmatism and minimal obliquity., Conclusions: This retrospective review of a relatively large sample size for this rare condition outlined the most common ocular manifestations of CHARGE syndrome. Decreased visual acuity, myopic refractive error, strabismus, and reduced contrast sensitivity were common. Thus, careful optometric evaluation in this population is required, as these findings must be considered in appropriate clinical and habilitative management., Competing Interests: Conflict of Interest Disclosure: BSK reports a financial conflict of interest for his consultancy concerning the Teller II Acuity Cards through University of Washington CoMotion. He reports a patent disclosure regarding the Mayer-Kran Double Happy Low Contrast Test. This author participated in the study design, interpretation, and writing of this manuscript. All other authors report no conflicts of interest and have no proprietary interest in any of the materials mentioned in this article., (Copyright © 2023 American Academy of Optometry.)

Competing Interests: Competing interests: None declared.

Background: Intracranial arachnoid cysts are cystic congenital malformations, filled with cerebrospinal fluid (CSF) originating from the arachnoid membrane. Generally, giant arachnoid cysts present with symptoms related to increased intracranial pressure, hydrocephalus or cognitive disorders, endocrinological problems, growth retardation, seizures, headache, and nonspecific symptoms such as dizziness. They can be detected by imaging when they become symptomatic or incidentally in childhood and adulthood. Our case was referred to our clinic because of ptosis and facial asymmetry found on examination. Subsequently, a intracranial giant arachnoid cyst was found incidentally on cranial computed tomography (CT)., Case: In an 18-month-old male infant admitted with ptosis, left frontal bulging and a dystopic globe with ptosis of the left upper lid were noted. The left half of the facial region and the left nostril also appeared to be asymmetrically elongated downward relative to the right. Fundus examination revealed an optic disc coloboma in the left eye. On general physical examination, he was unable to walk. A giant fronto-temporo-parietal arachnoid cyst with the cerebral parenchyma shifted 2cm to the right of the midline was observed on cranial CT. After a cysto-peritoneal shunt was performed, the physical appearance of our patient returned to normal., Conclusion: Ptosis cases accompanied by abnormalities such as optic disc coloboma and facial asymmetry should be evaluated for possible midline defects and intracranial pathologies prior to eyelid surgery., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Purpose: To report a case of Noonan syndrome with multiple lentigines with unusual ocular features., Methods: The authors describe a case of a 7-year-old girl with Noonan syndrome with multiple lentigines and anomalous optic disks., Results: A 7-year-old girl with genetically proven Noonan syndrome with multiple lentigines ( PTPN11 gene mutation) and anomalous optic disks was referred for treatment of persistent macular detachment after 1 year of conservative follow-up. The right eye demonstrated an optic disk coloboma with the best-corrected visual acuity of 20/32, the left eye demonstrated an optic disk pit with serous macular detachment (best-corrected visual acuity 20/50-20/80). Optical coherence tomography demonstrated a neurosensory detachment. Twenty-five gauge pars plana vitrectomy was performed with posterior hyaloid detachment, drainage over disk pit area, and SF6 20% gas tamponade. Surgery resulted in subretinal fluid reduction and improvement of the visual acuity to 20/32., Conclusion: A case of Noonan syndrome with multiple lentigines with optic disk coloboma in the right eye and optic disk pit with related maculopathy in the left eye. To the best of the authors' knowledge, this is the first reported case describing the association of Noonan syndrome with multiple lentigines and congenital optic disk anomalies. Optic disk pit maculopathy was managed surgically because of its longstanding nature with the deteriorating visual acuity., (Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Opthalmic Communications Society, Inc.)

Ocular coloboma is a rare congenital disability. If involving the macula, it affects the patient's vision and subsequently affects childhood development and quality of life in the future. Appropriate low vision aid and timely rehabilitation can provide the best possible quality of life for visually impaired children. We report a 9-year-old boy who presented with a diminution of vision in both eyes, and who was just enrolled in pre-school. He was diagnosed with bilateral iridochorioretinal coloboma associated with nystagmus and unilateral cataract. After all the necessary evaluation, a telescope was prescribed for distance and a dome magnifier for near. Furthermore, a peaked cap and photo grey lens were given for outdoor activities. This case highlights the importance of low vision intervention in a visually impaired child. Appropriate low vision aid and rehabilitation can improve patients' lifestyle and academic performance who are diagnosed with iridochorioretinal coloboma., Keywords: case reports; coloboma; ocular; rehabilitation; training.

Acquired lens colobomas secondary to ocular surgeries are scarcely described in the literature. We describe two cases of acquired lens coloboma in two infants with glaucoma who underwent ocular surgery. The coloboma in the first case was likely because of direct trauma to the lens zonules during an optical iridectomy with a vitrectomy cutter, resulting in localized loss of zonules and consequently localized lens coloboma. The coloboma in the second case was noticed during examination under anesthesia after scleral buckling and cryopexy for retinal detachment. The cause for coloboma development in this case could be disruption of the lens zonules because of stretching of the globe after scleral buckle surgery or because of injury to zonules during scleral buckling and the cryopexy procedure., Competing Interests: None

Purpose: We report use of cyanoacrylate (N-butyl-Cyanoacrylate) in previously failed retinal reattachment surgeries for chorio-retinal colobomas. We report the surgical technique, its challenges, and long-term outcomes in three patients who underwent the surgery., Methods: A chart review of patients with chorio-retinal colobomas and retinal detachment repair with cyanoacrylate at a tertiary eye care center in Nepal. Cyanoacrylate was used to seal colobomatous retinal breaks in eyes which had undergone multiple retinal surgeries with failed outcome., Results: Three eyes that were operated using cyanoacrylate were included. All three patients had attached retina and none of the patients required a long-term tamponading agent. None of the patients underwent head positioning following the surgery. All of the patients had a visual acuity gain of 3/60 or more at the end of 8 months. No adverse or inflammatory reactions were noted., Conclusion: We demonstrate that cyanoacrylate is safe and less resource-demanding without a requirement of second surgery to remove a tamponading agent. It could be helpful in eyes with persistent retinal detachment in colobomatous eyes. Because we were able to achieve favorable outcomes without head positioning, we believe it may also be helpful in patients who are not suitable for positioning because of bodily or bony deformities and in retinal detachment with other coexisting trauma.

Background: Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2)., Case Presentation: We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including hypertelorism, down slanted palpebral fissures, and dysplastic ears with tragus hypoplasia and pre-auricular pit. Ophthalmologic evaluation and heart ultrasound identified left chorioretinal and iris coloboma and ostium secundum type atrial septal defect, respectively. Based on the suspicion of cat eye syndrome, a standard karyotype analysis was performed, and detected an extra small marker chromosome confirming the CES diagnosis. The chromosomal abnormality was then defined by array comparative genome hybridization (a-CGH, performed also in the parents), which identified the size of the rearrangement (3 Mb), and its de novo occurrence. Postnatally, our newborn presented with persistent hypoglycemia and cholestatic jaundice. Endocrine tests revealed congenital hypothyroidism, cortisol and growth hormone (GH) deficiencies, which were treated with replacement therapies (levotiroxine and hydrocortisone). Brain magnetic resonance imaging, later performed, showed aplasia of the anterior pituitary gland, agenesis of the stalk and ectopic neurohypophysis, confirming the congenital hypopituitarism diagnosis. She was discharged at 2 months of age, and included in a multidisciplinary follow-up. She currently is 7 months old and shows a severe global growth failure, and developmental delay. She started GH replacement treatment, and continues oral hydrocortisone, along with ursodeoxycholic acid and levothyroxine, allowing an adequate control of glycemic and thyroid profiles as well as of cholestasis., Conclusions: CES phenotypic spectrum is wide and highly variable. Our report highlights how among the possible associated endocrine disorders, congenital hypopituitarism may occur, leading to persistent hypoglycemia and cholestasis. These patients should be promptly assessed for complete hormonal evaluations, in addition to major malformations and midline anomalies. Early recognition of such defects is necessary to decrease fatal events, as well as short and long-term related adverse outcomes., (© 2022. The Author(s).)

Purpose: To describe a novel surgical technique to treat refractory serous retinal detachment in a patient with an optic disk coloboma., Methods: Case report., Results: A 32-year-old male patient with an optic disk coloboma in his right eye was referred for recurrent retinoschisis and serous macular detachment despite multiple vitrectomies. Previous surgical procedures included peeling of internal limiting membrane and juxtapapillary laser as well as different tamponade agents such as sulfur hexafluoride gas, standard silicone oil, and heavy silicone oil. Our first approach to close the cavity using autologous platelet concentrate and gas tamponade was also unsuccessful with early recurrence of the submacular fluid. In a second attempt, an autologous neurosensory retinal transplant was used to cover the optic disk cavity. At 17-month follow-up, the macula was still attached. As a postoperative complication, the patient developed high intraocular pressure, for which laser cycloablation eventually was necessary., Conclusion: Autologous neurosensory retinal transplant may be a reasonable treatment option for patients with recurrent optic disk cavity-associated maculopathy.

Background: CHARGE syndrome (CS) is an autosomal dominant genetic condition whose recognition in the neonatal period is complicated by considerable phenotypic variability. Pediatric patients with genetic disorders have a known high incidence of hypoglycemia, due to many concurring factors. To date, neonatal hypoglycemia is a feature poorly explored in the literature associated with CS. This paper adds to the existing literature on hypoglycemia in CS and provides a brief review of the mechanisms through which CS, as well as the main genetic syndromes associated with neonatal hypoglycemia, may determine it., Case Presentation: The patient was a term newborn, first-born daughter to non-consanguineous parents. At birth, axial hypotonia with slight hypertonia of the limbs, and dysplastic auricles were noted. The incidental finding of asymptomatic hypoglycemia led to the initiation of glucose infusion on the II day of life, continued for a total of 8 days (maximum infusion rate: 8 mg/kg/min). In-depth endocrinological examinations showed poor cortisol response to the hypoglycemic stimulus, with normal GH values, thyroid function and ACTH. In view of the suspected hypoadrenalism, oral hydrocortisone therapy was initiated. Inappropriately low values of plasmatic and urinary ketones supported the hypothesis of concomitant transient hyperinsulinism, not requiring therapy. A brain MRI was performed, documenting thinning of the optic nerves, non-displayable olfactory bulbs and dysmorphic corpus callosum. An eye examination revealed bilateral chorioretinal coloboma. Temporal bone CT scan showed absence of the semicircular canals. The unexpected findings of coloboma and absence of semicircular canals led to the suspicion of CS, later confirmed by the molecular analysis of CHD7., Conclusions: It seems important to consider CS in the differential diagnosis of persistent hypoglycemia in newborns with specific anomalies. At the same time, it is advisable to consider the risk of hypoglycemia in children with CS, as well as other genetic syndromes. Awareness of the many possible causes of hypoglycemia in newborns with genetic conditions may help steer the investigations, allowing for an appropriate and timely treatment., (© 2022. The Author(s).)

Background: Uveal colobomata are eye defects that result from failure of the optic fissure of the neuroectoderm-derived optic cup to close between weeks 5-7 of fetal life. Mutations in YAP1 have previously been linked to uveal coloboma. We present the clinical features and genetic basis of a one-year-old male with bilateral uveal colobomata., Materials and Methods: Clinical features were gathered from an age-appropriate evaluation and retrospectively from clinical records. DNA samples were collected from the proband, his uncle (who also had coloboma), both parents, and one sibling. Whole-genome sequencing of the coding regions and intron-exon boundaries confirmed a mutation in the proband. These genetic findings were verified using the Sanger method of DNA sequencing., Results: The proband is a male with congenital bilateral colobomata (iris/retina/nerve), reduced vision, nystagmus with null point, bilateral microcornea, right microphthalmia, possible mild right hemifacial microsomia, a tubular nose, possible spina bifida occulta, and astigmatism. Whole-genome sequencing confirmed a heterozygous YAP1 frameshift mutation NM&#95;001130145.3:c.178dupG p.(Asp60GlyfsTer52) in the proband. This mutation was absent in all other tested family members., Conclusions: We report a de novo mutation in YAP1 that likely results in nonsense-mediated decay. Given the association with YAP1 haploinsufficiency and colobomatous microphthalmia, this novel variant provides a molecular diagnosis for the proband. Further insight into YAP1 mutations may have implications in the prevention/treatment of uveal coloboma and other syndromic disorders.

Purpose: To describe the clinical and imaging features in a series of patients diagnosed with macular coloboma (MC) and intrachoroidal cavitation (ICC)., Methods: Patients diagnosed with MC based on clinical examination between June 2017 and July 2021 were retrieved from the electronic medical record system and were included in the study. Colour fundus photographs, optical coherence tomography (OCT) and Multicolour® imaging scans of these patients were analysed., Results: We identified 16 eyes of 11 patients with MC on fundus examination. Based on OCT imaging features, conforming variant of MC was seen in 9 (56%) eyes and non-conforming variant in 7 (44%) eyes. No eyes with MC in the study showed features of both conforming and non-conforming varieties simultaneously. In the non-conforming variety of MC with presence of intercalary membrane break, ICC was identified in 5 (71%) of these eyes. ICC in MC appeared as flat, dark greenish areas with or without an orange-coloured boundary abutting the margin of the coloboma on Multicolour® imaging., Conclusion: In 31% eyes, ICC was seen in non-conforming type of MC and was well-identified on Multicolour® imaging. It appears that presence of intercalary membrane break and detachment are prerequisites for developing ICC., (© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)

Competing Interests: None

Competing Interests: None

Purpose: : To analyze the anatomical and visual outcomes of microincision vitrectomy surgery (MIVS) with silicone oil tamponade in eyes having coloboma-related retinal detachment (RD) and evaluate the risk factors for recurrence of RD., Methods: : This was a retrospective, multicentric analysis of eyes having coloboma RD undergoing MIVS with silicone oil tamponade between March 2010 and July 2018., Results: : We evaluated 148 eyes of 144 patients. The mean age of presentation was 17.4 ± 9.8 years (range: 2-65 years) and the mean follow-up duration was 13.1 ± 13.8 months (range: 3-84 months). The single operation success rate was 88.5% (131 eyes), with an overall successful outcome achieved in 90.5% (134 eyes). Recurrence of RD occurred in 17 eyes (11.5%) over a mean duration of 2.59 ± 3 months. The risk of recurrence was found to be higher in eyes where relaxing retinectomy (RR) was performed (odds ratio [OR]: 3.22; P = 0.05). A statistically significant improvement in vision was noted in the majority of cases from logMAR 1.85 ± 0.34 preoperatively to logMAR 1.33 ± 0.6 post-surgery (P = 0.002)., Conclusion: : MIVS with silicone oil tamponade provided an anatomical success rate of 90.5% in eyes with coloboma RD with a significant improvement in visual acuity. Eyes in which RR was performed were susceptible to higher rates of re-detachment., Competing Interests: None

Competing Interests: None

Background: Papillorenal syndrome is an autosomal dominant disorder associated with mutations in the gene PAX2 and often presents with characteristic and specific optic disc findings, frequently with renal dysplasia. In at least half of cases, an identifiable mutation in the PAX2 gene can be detected. We report the ocular findings in a second case of papillorenal syndrome with the c.350 G > C (p.Arg117Pro) mutation detected within the PAX2 gene., Methods: A case report of papillorenal syndrome due to PAX2 mutation. Complete ophthalmologic examination was performed as well as color fundus photography, fundus autofluorescence, and optical coherence tomography (OCT). Genetic testing was performed using a next-generation sequencing with CNV calling (NGS-CNV) panel test containing 55 genes associated with nephrotic syndrome or focal segmental glomerulosclerosis., Results: An 11-year-old boy who presented with hypertension and proteinuria was found to have stage IV chronic kidney disease. Presenting visual acuity was 20/25 in the right eye and 20/20 in the left eye. The fundus exam showed bilateral centrally excavated optic discs with absent central retinal vessels and a compensatory multiplicity of cilioretinal vessels, characteristic and specific for papillorenal syndrome. OCT showed outer retinal atrophy and macular schisis. Genetic testing identified the likely pathogenic c.350 G > C (p.Arg117Pro) mutation in PAX2., Conclusions: We report the first description, to our knowledge, of the clinical presentation, ocular and systemic findings, and ophthalmic imaging in an individual with papillorenal syndrome associated with the PAX2 c.350 G > C (p.Arg117Pro) mutation. Our case adds to the current understanding of papillorenal syndrome and demonstrates that this condition is associated with a pathognomonic optic disc appearance and significant renal disease.

Background Orbital cysts associated with microphthalmia are colobomatous lesions that typically present unilaterally and posterior to the globe. Case Report: A male infant had an orbital cyst associated with microphthalmia located anterior to the globe composed of a neuroglial wall, ependymal-like epithelial lining, with synaptophysin-positive cells resembling the retinal neuronal layer. Conclusion: This orbital cyst may represent a malformation of the eye rather than an encephalocele.

Background: Cataract surgeries are challenging in colobomatous eyes as they are associated with features such as microphthalmia, microcornea, zonular deficit, etc. These factors predispose to capsulorhexis extension, posterior capsular rent, zonular dialysis and result in unfavourable visual outcomes. The most critical step of cataract surgery in such cases is the capsulorhexis as the chances of extension are high in the colobomatous area. In presence of pre-existing zonular dehiscence, nucleus management becomes more challenging in advanced cataracts., Purpose: To illustrate efficient management of advanced cataract in colobomatous eyes., Synopsis: A 39-year old lady presented with complaints of gradually progressive diminution of vision in both eyes. Examination revealed bilateral nuclear sclerosis grade III-IV with irido-lenticular retinochoroidal coloboma (ILRCC). The patient was scheduled for bilateral cataract surgery after a thorough evaluation. Initially, the left eye was planned for phacoemulsification, in the course of which capsulorhexis extension occurred, leading to nucleus tilt and vitreous disturbance during emulsification. Automated anterior vitrectomy was done and the surgical approach was shifted to manual small incision cataract surgery (MSICS) with 3-piece intraocular lens placement in sulcus. The right eye was hence planned for MSICS and a rhexis extension was noted in this eye as well. Comparing the outcome of both the surgeries it was noted that both had capsulorhexis extension, but the management of nucleus and intraocular lens implantation was efficient in case of MSICS than phacoemulsification. Posterior chamber intraocular lens were placed in both eyes and the patient attained good visual outcome., Highlights: MSICS is a better approach to cases of ILRCC with advanced cataract. The capsulo should be tailored according to the site of coloboma such that it should be smaller in the area involving the coloboma and larger away from it., Video Link: https://youtu.be/d9FC0eavhRs., Competing Interests: None

Purpose: To evaluate outcomes of manual small-incision cataract surgery (MSICS) and phacoemulsification in eyes with chorioretinal coloboma., Setting: Tertiary eye center, South India., Design: Retrospective study., Methods: Electronic medical records of 71 patients with chorioretinal coloboma undergoing cataract surgery from January 2017 to December 2019 were evaluated. Demographics, corrected distance visual acuity (CDVA), slitlamp biomicroscopy findings, grade of cataract, type of coloboma and associated posterior segment pathology, outcomes of different surgical techniques and risk factors for poor visual outcomes, and intraoperative complications were analyzed., Results: Among the 78 eyes studied, 53.9% eyes achieved visual outcome of 20/40 or greater and 20.5% eyes achieved CDVA less than 20/200. For the MSICS group, the median preoperative CDVA was 1.78 (interquartile range [IQR] 1.08 to 2.60) logMAR), which improved to 0.60 (IQR 0.30-1.08) logMAR postoperatively. In phacoemulsification group, the CDVA improved from 0.78 (IQR 0.60-1.00) logMAR to 0.18 (IQR 0.18-0.30) logMAR. Statistically significant visual improvement was noticed in both groups (P < .001 in both). However, eyes that underwent phacoemulsification showed better visual recovery (P < .001). The mean age at presentation was 49.7 ± 10.8 years. MSICS was the most commonly performed surgery (61.54%), and 62 eyes had uneventful cataract surgery. Twelve eyes in MSICS group and 4 eyes in phacoemulsification group had intraoperative complications. Poor visual outcome was associated with male sex, microcornea, hard cataracts, and macular involvement of coloboma., Conclusions: MSICS is an alternative to phacoemulsification in colobomatous eyes with advanced cataract. Hard cataract and microcornea were risk factors for intraoperative complications. Significant postoperative improvement in CDVA was noticed in both macula involved and macula not involved groups., (Copyright © 2021 Published by Wolters Kluwer on behalf of ASCRS and ESCRS.)

Purpose: To report our anatomical outcome with the internal limiting membrane (ILM) graft procedure in the management of rhegmatogenous retinal detachment (RRD) secondary to optic disc coloboma (ODC)., Methods: Description of a new surgical procedure in one eye of one patient who underwent pars plana vitrectomy (PPV) combined with ILM graft technique. Subsequent follow-up included optical coherence tomography (OCT) and visual acuity., Results: After only 1 week, the OCT revealed the ILM graft plugging the retinal tear with complete resorption of subretinal fluid. The sealing effect of this graft persisted after 6 months. However, visual outcome was poor and corrected distance visual acuity was 20/200 as a result of the previous long-standing retinal detachment with loss of photoreceptors., Conclusion: We suggest that ILM graft could be performed as a first line treatment in the management of RRD secondary to ODC. This direct closure of the retinal tears, allows a quick and effective interruption of the communication between the subretinal space and the vitreous cavity. Detecting these retinal tears and applying this technique as soon as possible could achieve not only an earlier anatomical success but obtain good visual results in retinal tears with RRD secondary to ODC. Further studies will be necessary to provide more evidences.

Purpose: To describe the vitreoretinal structure at the margin of the choroidal coloboma in infants and older patients using swept-source (SS) OCT., Design: Retrospective case series., Participants: Nineteen eyes of 16 patients with choroidal coloboma (7 males, 9 females; average age, 12.3 ± 7.1 years)., Methods: The patients were classified into 2 groups: infants 1 year of age or younger (3 eyes) and older patients (16 eyes). Each finding on SS OCT was documented according to previously defined histopathologic findings., Main Outcome Measures: Description of the SS OCT features of choroidal colobomas., Results: Swept-source OCT showed that the extracolobomatous retina centrally traversed the margin to continue as the marginal intercalary membrane (MICM), whereas the outer layers of the MICM were reversed at the point (point of reversal [POR]). The expected duplication was seen in all infant eyes, but in none of the older eyes whose outer layers of the MICM were ambiguous. However, at the boundary between the layered MICM and monolayered central intercalary membrane (CICM), the POR was detectable in all patients. Further SS OCT analysis showed that the MICM schisis and CICM schisis occurred simultaneously with vitreous traction. Retinal detachments (RDs) seen in 4 eyes were connected to the only MICM schisis, and a MICM break was identified in 1 eye. Swept-source OCT showed that retinal pigment epithelial hyperplasia adhered tightly to the retina and that the glial triangle was adhered tightly to the sclera, indicating barriers to the development of RD after MICM schisis., Conclusions: Swept-source OCT first visualized the POR in infant eyes and showed that the POR was identifiable despite the atrophic changes in the outer layer of the MICM in the older eyes. Based on the POR location, we confirmed that the intercalary membranes reported in previous OCT studies were clearly differentiated between the MICM and CICM. We also showed that the presence of MICM and CICM schisis resulted from vitreous traction at the coloboma margin and that MICM breaks induced RD only if the barrier that prevented the development of RD was broken., (Copyright © 2020 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

A 12-year-old girl presented with an unusually large mass under the right lower eyelid and a smaller mass under the left lower lid since the last 6 months. The parents had noticed the absence of the right eyeball and a very small left eyeball and no vision in both eyes since birth but did not approach the healthcare system. The patient was diagnosed as a case of bilateral severe microphthalmos with colobomatous cyst with late presentation and was treated surgically. The parents were counselled for education and training of the child in schools for visually impaired. Early treatment and rehabilitation help patients lead a normal life in these cases. In rural areas, patients face challenges in getting access to the specialty eye-care services due to several barriers, including lack of availability and affordability. This case highlights the disparities in essential health services in low and middle-income countries., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: The aim of this study was to report the outcome of cataract surgery with different surgical techniques in eyes with coexisting coloboma and to define factors of prognostic importance., Methods: Retrospective case sheet review of patients presenting between January 2016 and December 2018, who underwent cataract surgery in eyes with coexisting coloboma., Results: Of the 3,30,231 cases operated during the study period, 280 eyes of 276 patients had associated colobomatous malformation. The prevalence of coloboma in eyes undergoing cataract surgery was 0.085%. The mean age of the patients was 46.4 years (range 19 -88 years). Phacoemulsification (PE) was performed in 130 eyes (46.4%), manual small incision cataract surgery (M-SICS) was done in 115 eyes (41.1%), and 35 eyes (12.5%) underwent intra capsular cataract extraction. Intra-operative complications were noted in 26 (9%) eyes. Incidence of intra-operative and post-operative complications was comparable between PE and M-SICS groups (p = 0.94). The mean corrected distance visual acuity (CDVA) improved from logMAR 1.71 ± 0.62 to 0.87 ± 0.61 (p = 0.00009). On multivariate analysis, microcornea (p = 0.002), type 1 and 2 coloboma (p < 0.001), and intraoperative complications (p = 0.001) were associated with poor visual outcome., Conclusion: Favorable functional outcomes can be achieved with phacoemulsification in eyes with softer cataract and corneal diameter >8 mm and with M-SICS in eyes with hard cataracts and corneal diameter of 6-8 mm. PE should be considered as the primary choice whenever permissible by the corneal diameter and severity of nuclear sclerosis. Poor functional outcomes were seen in eyes with smaller corneal diameter, extensive chorioretinal coloboma, and intraoperative complications., Competing Interests: None

This case report presents a rare association of a complete aniridia with lenticular and choroidal coloboma. An 8-year-old female patient was referred to our glaucoma clinic with aniridia, nystagmus and bilateral corneal opacity with right eye being phthisical. Ultrasonography of the phthisical eye revealed the presence of an old closed funnel retinal detachment. Further examination under anaesthesia revealed lens coloboma in the inferonasal quadrant and presence of a choroidal coloboma in the left eye. The intraocular pressure was 28 mmHg with a central corneal thickness of 693 µm. A macula sparing laser barrage around the colobomatous area was done in the left eye and topical ocular hypotensives were started.

Bilateral Tessier cleft types 3 and 4 are rare and commonly involve the lacrimal drainage system owing to their anatomical location. Such clefts commonly present with associated ocular anomalies and include colobomatous eyelids, hypertelorism, microphthalmia, punctal or canalicular agenesis, and nasolacrimal duct obstruction or exstrophy. The current report presents an 18-month-old baby with bilateral Tessier cleft 3 with a unilateral anophthalmos, symmetrical eyelid colobomas, and lacrimal drainage anomalies. The lacrimal anomalies noted include small lacrimal sac with inferior canaliculus on the right side and upper and lower punctal and canalicular agenesis on the left side. Computed tomographic dacryocystography demonstrated unilateral lacrimal sac and bilateral maldevelopment of the bony nasolacrimal duct.

Purpose: To determine the anatomical and visual outcomes of retinal detachment in eyes with chorioretinal coloboma managed by pars plana vitrectomy, endolaser photocoagulation and silicone oil (SO) tamponade., Methods: Retrospective review of 29 eyes of 29 patients with retinal detachment associated with chorioretinal coloboma. All the cases were managed by vitrectomy procedures concluding with SO tamponade. Encircling band was placed based on pre-operative evaluation and/or surgeon's discretion. Endolaser photocoagulation was applied around the peripheral retina, all around the peripheral breaks and around the colobomatous area. The outcome measures were evaluated with regard to functional and anatomical success., Results: The average age at the time of surgery was 21.76 ± 9.58 years (range, 10-50 years). The mean follow-up duration was 12.28 ± 4.8 months (range, 6-24 months). Primary attached retina was obtained in 21 / 29 (72.4%) eyes after single surgery. Re-detachment in 8 / 29 (27.6%) eyes which required revision surgery was the most frequent postoperative complication followed by raised intraocular pressure in 4 / 29 (13.8%) with SO in situ. Out of 29 eyes, 23 were followed up after the removal of SO. The mean duration of SO removal was 7.91 ± 3.9 months (range, 4-18 months). Implantation of encircling band, lens removal and cryotherapy provided no added advantage. At the final examination, improvement in vision was observed in 21 (72.4%) eyes and the anatomical attachment of the retina was attained in 27 (93.1%) eyes., Conclusions: Complete pars plana vitrectomy, endolaser photocoagulation along with SO tamponade is effective for retinal detachment associated with chorioretinal coloboma. This technique improves the anatomical outcome and helps in regaining significant visual acuity.

Background: Cat eye syndrome (CES) is a rare chromosomal disorder with a known incidence of 1 per 50,000-150,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients. In addition, other ocular malformations and systemic defects can be present. The aim of this report is to present a patient with unilateral iris coloboma related to a mosaicism of cat eye syndrome., Methods: A complete ophthalmological and systemic evaluation was performed in a three-year-old male. He also underwent a standard karyotype and FISH analysis with a probe against the 22q11.2 locus., Results: The ophthalmological and systemic evaluation revealed a unilateral iris coloboma and ipsilateral auricular malformations. Karyotype analysis of blood leukocytes indicated the presence of a marker chromosome in 6% of the analyzed cells. FISH analysis showed three positive signals in 5.5% of the analyzed nucleus., Conclusion: This patient presented two of the three classic manifestations of CES; interestingly, they were unilateral. The 22q11 duplication was identified by standard karyotype and confirmed with FISH. The present case demonstrates the importance of conducting a multidisciplinary approach in patients with congenital malformations associated with known syndromes.