Chorioretinal Coloboma Research Articles

Clinical and genetic spectrum of coloboma: A proposal for a comprehensive approach to pediatric patients

Purposeto analyze pediatric coloboma cases to (1) identify ophthalmological and systemic associations, (2) establish the variables with the highest probability of reaching a genetic diagnosis and worse visual prognosis and (3) propose a clinical and genetical assessment protocol. Design and methodsDescriptive, retrospective and single-center study. Patients under 18 years of age diagnosed with iris, chorio-retinal and/or optic disc coloboma under follow-up by a reference Pediatric Ophthalmology Unit have been selected from January 2012 to December 2022. A comprehensive data collection and analysis was performed to evaluate phenotype, molecular and prognosis correlations. ResultsA total of 214 patients with a mean age of 11.3 years (6.8 SD) were included (57% female). Among them, 50.9% presented with bilateral coloboma and 66.8% with other ophthalmological alterations (28.5% with microphthalmia). Systemic involvement was observed in 28%, being neurological dysfunction (24.8%) and craniofacial dysmorphic features (18.2%) the most frequent. Molecular diagnosis was reached in 19.2% and clinical exome sequencing had the highest diagnostic yield (22.2%). Bilaterality, macula involvement, short stature and neurological, craniofacial dysmorphic, cardiovascular, and renal anomalies were associated with reaching a genetic diagnosis (p < 0.05). Patients with craniofacial dysmorphic features, hearing, neurologic, cardiac abnormalities or short stature had a worse visual prognosis according with a multivariate model (p < 0.05). A diagnosis and follow-up protocol was developed. ConclusionIt is imperative to ascertain diagnostic and prognostic indicators in individuals with coloboma to facilitate genetic counseling, mitigate potential complications, and enhance the overall well-being of patients and their families

Stereoscopic fundus photograph, optical coherence tomography features, and fundus autofluorescence in a focal combined retinal and choroidal coloboma

Chorioretinal coloboma is a rare condition caused by incomplete closure of the embryonic fissure. We report a case of a 34 years old with a unilateral retinal and choroidal coloboma in the right eye, highlighting the use of stereoscopic fundus photograph, spectral-domain optical coherence tomography, and fundus autofluorescence. Regular eye examinations are crucial to detect changes in patients with a higher retinal tear and retinal detachment risk.

The Outcome of Surgeries Performed for Retinal Detachment Associated with Chorioretinal Coloboma

OBJECTIVES To study the outcome of surgeries performed for retinal detachments associated with chorioretinal colobomas. METHODOLOGY This retrospective study enrolled 16 eyes of 16 patients with retinal detachments associated with chorioretinal colobomas. Standard 3-ports 23-gauge Pars plana vitrectomy (PPV) with silicon oil tamponade and endo-laser was performed along the rim of colobomas in all cases. In 4 (25.0%) eyes, buckling was performed with 240 silicon bands and vitrectomy to support the vitreous base. In 12 eyes (75.0%), the natural lens was removed with phaco / lensectomy and intra-ocular lens implantation. RESULTSOut of 16 eyes, the retina was re-attached in 15 eyes (93.75%) after the first operation. One eye needed a second surgery, which was successful anatomically after the second surgery. Mean pre-operative best-corrected visual acuity (BCVA) was 3.36 (±0.52), while 2-weeks post-operative BCVA was 1.92 (±0.88), which was statistically significant (P&lt;.001) improvement. Increased intra-ocular pressure (IOP), silicone oil in the anterior chamber (AC), recurrent retinal detachment, and epiretinal membrane (ERM) formation were some of the complications observed post-operatively. CONCLUSION PPV with endo-laser photocoagulation along the rim of colobomas and silicon oil tamponade is an effective surgical procedure with a statistically significant retinal reattachment ratio and best corrected visual acuity improvement in cases of rhegmatogenous retinal detachment (RRD) associated with chorioretinal colobomas.

Ocular manifestations in Koolen–de Vries syndrome: an international study

ObjectivesKoolen–de Vries Syndrome (KdVS) is a rare multisystem neurodevelopmental disorder. Ocular manifestations, including strabismus, ptosis, and hyperopia, have been reported in KdVS patients, but detailed clinical data are limited. This study aims to investigate the already known ocular malformations and their frequency while uncovering novel ocular associations. MethodsThis was an international cross-sectional study. An anonymous questionnaire was sent to 237 KdVS patients registered in the GenIDA database. The questionnaire inquired about demographic data, ocular symptoms, findings reported by ophthalmologists, and ophthalmologic surgical interventions. The main outcome measures included ocular findings and surgical interventions. ResultsSixty-seven respondents worldwide completed the questionnaire, most (n = 53; 79%) under 18 years of age. Ophthalmologic abnormalities, noted in 79% of patients, included refractive errors (n = 35; 52.2%), strabismus (n = 23; 34.3%), amblyopia (n = 13; 19.5%), and eyelid ptosis (n = 9; 13.4%). Lacrimal disorders were present (n = 6; 9.0%), as were retinal findings (n = 7; 10.4%), including retinal hyperpigmentation or hypopigmentation (n = 4; 7.5%), Sjögren's pigment epithelial reticular dystrophy (n = 1; 1.5%), and macular chorioretinal coloboma (n = 1; 1.5%). Other manifestations included ocular surface disorders (n = 5; 7.5%), cataracts (n = 3; 4.5%), Brown syndrome (n = 1; 1.5%), glaucoma (n = 1; 1.5%), cerebral visual impairment (n = 1; 1.5%), and optic atrophy (n = 1; 1.5%). Fourteen patients (20.8%) had undergone surgical interventions. ConclusionsKdVS is associated with various ophthalmic findings, such as amblyopia, refractive errors, strabismus, and eyelid ptosis. We describe, for the first time, a high rate of nasolacrimal disorders and retinal abnormalities consisting mainly of pigmentary findings, including a rare case of Sjögren's pigment epithelial reticular dystrophy. A comprehensive ophthalmic evaluation is therefore recommended for all KdVS patients at initial diagnosis or at 4–6 months of age for diagnosed newborns.

P17 Pseudomonas infection causing acute painful flexural exacerbation in a child with IFAP syndrome

Abstract Ichthyosis follicularis alopecia and photophobia (IFAP) syndrome is a rare, X-linked inherited disorder caused by pathogenic mutations in the MBTPS2 gene. Seventy cases have been reported previously. The phenotypic spectrum varies, but IFAP consistently causes noninflammatory follicular keratoses, nonscarring alopecia and progressive corneal scarring. A 7-year-old boy, with IFAP syndrome associated with neurodevelopmental delay, chorioretinal coloboma and poor growth requiring gastrostomy, presented with a 4-week history of worsening flexural erythema and pain. Trials of topical steroids with fucidic acid, nystatin and oral penicillin had proven ineffective. On initial evaluation he had florid painful flexural erythema with surrounding crusting and scale. The Nikolsky sign was negative. He was systemically unwell with fever, dehydration and malaise requiring hospital admission. Laboratory evaluation demonstrated leucocytosis with neutrophilia and peak CRP of 100. He was treated empirically for bacterial superinfection including Staphylococcus scalded skin syndrome with intravenous clindamycin. With no appreciable improvement after 48 h, antimicrobial therapy was extended to include fluconazole and aciclovir. After 5 days, he continued to be febrile and systemically unwell with extensive yellow-brown crusting most marked at the flexural areas, and clindamycin was switched to piperacillin/tazobactam to provide antipseudomonal coverage. Skin swab cultures subsequently confirmed heavy growth of Pseudomonas aeruginosa. Within 48 h there was marked clinical improvement. He was discharged home to complete a course of oral antibiotics. This case highlights the importance of early consideration of Pseudomonas infection as a cause of subacute flexural exacerbations, particularly in those with skin barrier abnormalities, including inherited ichthyoses.

Insights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic.

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. 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. 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. 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. 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.

RE-INVENTING CYANOACRYLATE RETINOPEXY IN THE 21ST CENTURY: LITERATURE REVIEW AND CASE SERIES.

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. 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. 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. 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.

CHOROIDAL NEOVASCULARIZATION IN A CASE OF CHORIORETINAL COLOBOMA TREATED WITH INTRAVITREAL ANTI-VEGF INJECTONS: A CASE REPORT

Introduction: Chorioretinal coloboma (CRC) results from abnormal closure of the embryonic fissure. Choroidal neovascularization (CNV) is a rare complication that associated with coloboma of the choroid. VEGF is an important factor in the development of CNV.&#x0D; Case Report: A 52-year-old woman with gradual blurred vision of the left eye since 4 months ago. Right eye was already blurred since she was a child with uncorrected visual acuity (UCVA) was 0.5/60. Her right iris showed coloboma in inferior and chorioretinal coloboma. UCVA of the left eye was 6/20. Her left iris showed inferior coloboma, chorioretinal coloboma and macular edema with soft drusen. Macular optical coherence tomography (OCT) confirmed macular subretinal fluid, and indicated a CNV lesion of the left eye. She underwent a loading dose of three monthly intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections (bevacizumab) for the left eye. One month after completion of treatment, UCVA of the left eye improved to 6/12.&#x0D; Discussion: CNV is a complication associated with CRC. Intravitreal Anti-VEGF treatment using loading dose regimen is shown to be effective in treating CNV. One month after completion of treatment, UCVA of the left eye improved.&#x0D; Conclusion: Chorioretinal coloboma is a rare posterior segment congenital anomaly. Classical, bilateral coloboma of the choroid and iris indicates a deformation of the choroidal fissure closure. Coloboma of the choroid can have a complication such as choroidal neovascularization. Treatment with a loading dose of three monthly intravitreal anti-VEGF injections showed good anatomical and functional results.

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

BackgroundCat 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 presentationWe 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.ConclusionsCES 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.

CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia

BackgroundCHARGE 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 presentationThe 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.ConclusionsIt 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.

Isolated Chorioretinal Coloboma: A Case Report

Ocular coloboma is a rare congenital anomaly that arises due to an abnormality in embryogenesis. It occurs due to failed fusion of the embryonic fissure resulting in a persistent defect. Colobomas may present with vision loss but are most commonly asymptomatic and diagnosed incidentally. In this article, we present a case of asymptomatic chorioretinal coloboma diagnosed on routine screening. The patient was managed with prophylactic argon laser retinopexy to prevent complications leading to visual impairment in the future.

Commentary: Surgical challenges associated with the management of retinal detachment associated with chorioretinal coloboma.

Commentary: Surgical challenges associated with the management of retinal detachment associated with chorioretinal coloboma.

Neonate with Respiratory Distress, Bilateral Microtia, Hypocalcemia, and Lymphopenia.

Neonate with Respiratory Distress, Bilateral Microtia, Hypocalcemia, and Lymphopenia.

Novel insights into chorioretinal and juxtapapillary colobomas by optical coherence tomography.

The purpose was to describe the in vivo microanatomy of typical and atypical chorioretinal and juxtapapillary colobomas in the dog. Three cross-breed dogs were found to be affected with colobomas. Two of the cases were NEHJ1homozygous and Collie Eye Anomaly (CEA) affected and had the typical optic nerve head colobomas seen with the disease. The third case had an unexpected atypical coloboma. In vivo retinal photography and non-invasive retinal imaging by confocal scanning laser ophthalmoscope (cSLO) and optical coherence tomography (OCT) were done, and the eye affected with the atypical coloboma was collected and processed for histopathological evaluation. The majority of the defining features within the CEA defects were similar, with the extent of change to the choroid being of note. Similar to the first two cases, the atypical coloboma demonstrated absent normal retina, RPE, and choroid within the coloboma. Prominent intercalary membranes and vitreal strands attached to the depth of the coloboma were also apparent in all affected eyes. However, unlike the CEA-associated colobomas, the atypical coloboma possessed normal choroid surrounding the lesion and the depth of the lesion was apparent throughout. Advanced retinal imaging enables the appreciation of microanatomical changes that occur in the living eye. The ability of OCT to enhance visualization of abnormal retinal structures and detect subtle neurosensory retinal defects has allowed for the in vivo characterization of features observed in typical and atypical colobomas, as well as the appreciation of some of the resulting structural changes not visible by ophthalmoscopy alone.

Neonatal Onset Glaucoma in a Case with Gorlin-Goltz Syndrome: An Unusual Association.

Aim and objectiveTo report a unique presentation of Gorlin–Goltz syndrome (GGS) with congenital glaucoma.Materials and methodsWe report a case of a 3-month-old female patient with bilateral uncontrolled intraocular pressures (IOP), who was already diagnosed with GGS. Examination under anesthesia demonstrated microcornea, iris coloboma, lens subluxation in both eyes, and edematous cornea in the left eye. Intraocular pressure was 17 mm Hg in OD and 35 mm Hg in OS with Icare (Icare® PRO) tonometer on repetitive measurements. On dilated fundus examination, a large chorioretinal coloboma was seen on both eyes.ResultsOn physical examination, cutaneous, dental, and skeletal anomalies associated with the GGS were found. As previously reported ocular abnormalities associated with the GGS; coloboma and microphthalmia were noted. In addition, congenital glaucoma which is not one of the known associations of GGS was also detected. For treatment, 270° transscleral diode cyclophotoablation was performed for the left eye and medical treatment was reorganized for both eyes.ConclusionNeonatal-onset glaucoma might be one of the important ocular manifestations of GGS.How to cite this articleTefon Arıbaş AB, Aktaş Z, Özdek Ş. Neonatal Onset Glaucoma in a Case with Gorlin–Goltz Syndrome: An Unusual Association. J Curr Glaucoma Pract 2021;15(2):99–101.

Outcomes of manual small incision cataract surgery and phacoemulsification in eyes with chorioretinal coloboma.

To evaluate outcomes of manual small-incision cataract surgery (MSICS) and phacoemulsification in eyes with chorioretinal coloboma. Tertiary eye center, South India. Retrospective study. 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. 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. 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.

The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.

To review the authors' experience in the diagnosis of retinoblastoma and to explore the frequency of intraocular conditions that mimic this malignancy according to patient age at presentation. This was a retrospective observational study including 549 patients (769 eyes) who were referred for confirmation and/or management of retinoblastoma between October 1998 and June 2019 at a single tertiary center. A detailed ocular examination was done by the same ocular oncologist under general anesthesia for every patient. Of 549 patients referred for diagnostic confirmation or management of retinoblastoma, 393 (71.6%) patients were found to have retinoblastoma and 156 (28.4%) patients received the diagnosis of pseudoretinoblastoma. The mean patient age at presentation was 52.1 months, ranging from 1 to 276 months. The most common diagnoses among patients with pseudoretinoblastoma younger than 1 year were persistent fetal vasculature (PFV) (n = 19; 28.8%), Coats disease (n = 7; 10.6%), chorioretinal coloboma (n = 4; 6.1%), retinal dysplasia (n = 4; 6.1%), and retinal detachment (n = 4; 6.1%). In patients with pseudoretinoblastoma who were 1 to 5 years old, the most common diagnoses were Coats disease (n = 10; 25.6%), PFV (n = 7; 17.9%), and optic disc hypoplasia (n = 3; 7.7%). Patients older than 5 years were most likely to have Coats disease (n = 8; 15.7%), optic disc drusen (n = 5; 9.8%), retinopathy of prematurity (n = 4; 7.8%), and combined hamartoma (n = 4; 7.8%). This study shows that 28.4% of patients referred for suspicion or management of retinoblastoma were classified as having pseudoretinoblastoma. The most common conditions causing diagnostic confusion with retinoblastoma included PFV and Coats disease, similar to previous publications from both high-and low-income countries. [J Pediatr Ophthalmol Strabismus. 2021;58(3):161-167.].

Optic Nerve Aplasia.

Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

Cataract surgery in eyes with associated coloboma: Predictors of outcome and safety of different surgical techniques.

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.

Monitoring healing of accidental laser burns of the macula using optical coherence tomography

Patients with chorioretinal colobomas are at a risk of rhegmatogenous retinal detachment as a consequence of retinal breaks that occur in the abnormally thin colobomatous or extra colobomatous reti...