Choroidal Coloboma Research Articles

Therapeutic approach to ocular coloboma - a case report of a 37-year-old patient with high myopia and choroidal coloboma of the right eye

Introduction: Coloboma is a congenital malformation caused by a defect of optic fissure closure. We report a rare case of choroidal coloboma and management of possible complications. Clinical case: A 37-year-old patient presented for the current evaluation of uveal coloboma located in the inferior-nasal quadrant with the involvement of the optic disc and advanced high myopia. Conclusions: The management of coloboma includes follow-up of visual acuity level, anterior segment and fundus evaluations. Retinal detachment, cataract and choroidal neovascularization may occur secondary to the defect. Pars plana vitrectomy, autologous neurosensory retinal transplantation and laser therapy are considered methods in present case.

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.

All about the taxonomy of retinochoroidal coloboma - A comprehensive portrait collage with truecolor high-resolution confocal fundus images

Retinochoroidal colobomas are rare congenital anomalies of the eye. It has varying clinical presentations depending on the extent and involvement of ocular tissue, which can either be unilateral or bilateral. Choroidal colobomas are the most common type of ocular colobomas, and it is important to learn its various types. It can present with other associated systemic and ocular features.

A rare occurrence of superior retinochoroidal coloboma: A case report

Purpose: To brief a rare case of superior retinochoroidal coloboma and to analyze the possible embryogenic aspects involved in its provenance. Method: A case report. Result: This case report highlights an 11-year-old myopic girl who presented with diminution of vision in both eyes for the past 1 year. She had no other specific ocular complaints. The best corrected visual acuity was 6/18p and N24 in the left eye (OS) and 6/6 and N6 in the right eye (OD) at 30 cm. On detailed examination, all ocular structures were found to be normal except the fundus, which showed superior choroidal coloboma with foveal involvement in OS, with OD being normal. This is a rare phenomenon as most often, ocular coloboma is located in the inferior nasal quadrant with the involvement of the iris and/or crystalline lens. Conclusion: The rare finding in this case is the location of coloboma at the superior quadrant. Moreover, this coloboma case spares the iris and crystalline lens, making it even rarer in the category, considering the uncommonness of such cases.

Goltz syndrome in male

Goltz syndrome or focal dermal hypoplasia is a rare meso-ectodermal, X-linked dominant genetic disorder with female preponderance. Though the involvement of multiple systems is present, the hallmark of this syndrome is typical cutaneous features. Here, we report a unique case of Goltz syndrome in a 21-year-old male who presented to us with multiple growths on the palpebral conjunctiva of the right eye along with abnormal ice pick–type lesions on the skin. No significant family history was present. The affected eye also had iris and choroidal coloboma. Mild mental retardation and gingival hyperplasia were noted on systemic examination. Being a multisystem disorder, an ophthalmologist should be aware of its extraocular manifestations that can be fatal.

Choroidal coloboma with internal limiting membrane folds: A rare association.

Choroidal coloboma with internal limiting membrane folds: A rare association.

Co-existing Unilateral Optic Disc Pit and Choroidal Colobomas

Co-existing Unilateral Optic Disc Pit and Choroidal Colobomas

CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma

CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma

Pattern of congenital eye anomalies in children: A study from rural tertiary care hospital

Background: Congenital eye anomalies are an important cause of childhood blindness. Worldwide, there are a lot of variations in the spectrum of congenital eye anomalies. The key to preventing childhood blindness is early detection and intervention of the congenital eye anomalies. Aims and Objectives: This study aims to describe the type and frequency of congenital eye anomalies in children. Materials and Methods: This cross-sectional study was done on children attending pediatric OPD and the newborn babies born in the hospital in the period of 1 year from June 2019 to May 2020. They were screened for any ocular abnormality and then detailed ocular examination was done by the ophthalmologist. The data were collected for demographic characteristics, clinical diagnosis, age of presentation of anomaly, laterality, involvement of one or both eye, and type of anomaly. Variables were expressed as proportions or percentages. Results: A total of 32,858 children were screened for ocular abnormalities. Out of these, 1571 (0.047%) children had ocular abnormalities. Among them, 1011 (64.35%) presented in the 1st year of life, 381 (24.25%) in the 2nd year of life, and the remaining 179 (11.4%) were diagnosed after 2 years of life. Among various anomalies, congenital nasolacrimal duct obstruction was the most common anomaly (65%) followed by coloboma of iris and choroid (13.8%). Congenital ectropion and anopthalmos were found in five and three children, respectively. Conclusion: The most common anomaly was congenital nasolacrimal duct blockage followed by coloboma of iris, choroid, and cataract. Early detection and intervention of the congenital eye anomalies is necessary to prevent blindness.

COLOBOMA OF IRIS AND CHOROID: A CASE REPORT

Ocular coloboma is a rare malformation which occurs as an isolated defect in healthy individuals or be part of a complex malformation syndrome of known or unknown etiology. Patients with coloboma of iris and choroid complicated with cataract should have a cataract surgery to improve their BCVA, if there is no retinal detachment.We report the case of a coloboma of iris and choroid in the right eye of a male following a consultation.The patient had a inferonasal coloboma of iris, which resulted in the pear-shaped pupil in the left eye, and opaqueness of lens, may result in the lower visual acuity. Fundus examination revealed a large inferior choroidal coloboma under the optic disc in the left eye, which was about seven-disc areas.

Retinal complications of optic nerve and choroidal colobomas in pediatric patients

Colobomas of the choroid and optic nerve predispose patients to retinal detachment and visual loss. This study explored the incidence of retinal complications (fluid, detachment), reviewed their course and management, and identified a novel treatment (oral acetazolamide followed by indirect laser) for early onset retinal detachment in a monocular patient with optic nerve coloboma.

Screening of pediatric eye disease at home by using camera of mobile phone

The simplest method of screening eye pathology in infant is red reflex examination. Present, absence or change of red reflex is key point in early detection of eye pathology. Objective – establish possibility using of mobile phone camera for eye pathology screening at home.Materials and methods. 750 children were included in research. Patient parents allowed photo their child before ophthalmology exam. First step was taking photo on parent’s mobile telephone in playing room from different distance and lighting. Second step was photo in exam room in mesopic condition in 1, 2 and 4 m distance with using maximum zoom and then ophthalmologic exam. After that, all photos was analysed by next signs: present or absence of red reflex, intensive of red reflex, present or absence pathology shadow, in case of red reflex changing, distance where changing is best viewed, comparison photo with result of ophthalmology exam. Results. After analysing photos all children was divided in three groups depending on red reflex chan-ging. In the first group red reflex was even without additional shadow, same in both eye. In this group after ophthalmology exam ametropy low level and eyelid pathology was diagnosed. In the second group red reflex was irregular by colour with additional light shadow or different intensity of red reflex in both eye. Ametropy high level was diagnosed in this group. In the third group we observed absence or colour change of red reflex. Cataract, congenital glaucoma, retinoblastoma, retinal and choroidal coloboma, Coats retinitis was diagnosed. Changing of red reflex possible to find on all photos from different distance, but the most informative was photo that was done from 1 m in mesopic condition. Conclusion. By equability and colour changing of red reflex on photo, all children may divided in three groups: 1 – children require only prophylactic ophthalmology exam, 2 – children require additional ophthalmology exam, 3 – children require immediate ophthalmology exam.

Ophthalmic Abnormalities among Children Treated with Cochlear Implants.

To review the ocular abnormalities in children treated with cochlear implant. A total of 51 children (29 boys, 22 girls) who were under 18 years old, presented previously with severe to profound hearing loss, and underwent cochlear implantation surgery were included in this study prospectively. A detailed ophthalmic examination, including refraction, best corrected visual acuity, ocular motility, slit-lamp biomicroscopy, and dilated fundus examination, was performed for each patient. Mean age of the patients was 80.10±38.64 (range, 18-168) months. A total of 13 (25.4%) children had at least 1 ophthalmic abnormality. The majority of the detected ophthalmic abnormalities were hyperopia and astigmatism (6 patients had hyperopia, 5 had astigmatism, and 2 had hyperopia plus astigmatism). Strabismus (esotropia) was found in 2 patients, 2 patients had refractive amblyopia, and 2 patients had nystagmus. Moreover, 3 patients had microcornea, 2 patients had cataract, and 1 patient had epiblepharon. Optic disc coloboma (3 patients), choroidal coloboma (1 patient), and pigmentary abnormality (1 patient) were noticed on fundus examination. Congenital rubella syndrome (2 patients), Waardenburg's syndrome (1 patient), and CHARGE syndrome (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, ear abnormalities) (1 patient) were also present. Children treated with cochlear implant should be consulted with an ophthalmologist to identify any treatable ocular abnormality.

Structure of the Retinal Margin and Presumed Mechanism of Retinal Detachment in Choroidal Coloboma

To describe the vitreoretinal structure at the margin of the choroidal coloboma in infants and older patients using swept-source (SS) OCT. Retrospective case series. Nineteen eyes of 16 patients with choroidal coloboma (7 males, 9 females; average age, 12.3 ± 7.1 years). 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. Description of the SS OCT features of choroidal colobomas. 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. 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.

Cataract surgery in eyes with congenital ocular coloboma.

To assess the safety, efficacy, and complication rate of phacoemulsification and intraocular lens (IOL) implantation in patients with congenital uveal coloboma and to evaluate the role of pupilloplasty. A retrospective review of 41 eyes (31 patients) with congenital coloboma that underwent phacoemulsification and IOL implantation between September 2012 and September 2018. Preoperative, intraoperative, and postoperative data were collected for analysis. The mean patient age at surgery was 53.9years (range 15-82). The primary indication for surgery was cataract removal for visual improvement, and lens subluxation was additionally present in two eyes (5%) preoperatively. The mean preoperative corrected distance visual acuity (CDVA) was 0.90 LogMAR. Phacoemulsification surgery was performed in all cases and nine eyes (22%) had pupilloplasty for pupil reconstitution at the time of the procedure. Surgeon grade varied from trainee surgeon under supervision to consultant. Eight patients (19.5%) had posterior capsular rupture (PCR) with or without vitreous loss requiring anterior vitrectomy. Of these, 2 cases (5%) had dropped nuclear fragments requiring subsequent pars plana vitrectomy and lens fragment removal. The mean postoperative CDVA was 0.62 LogMAR (p = 0.0003). Patients with iridolenticular choroidal coloboma appear to be more at risk of complications, as were cases performed by non-consultant surgeons. Contrary, patients with phakodonesis, preoperative anterior chamber vitreous, dense cataracts, and cases were iris hooks used had no significant difference at PCR rate. The risk of postoperative glare and pupilloplasty needs to be considered in cases with good visual potential to avoid a possible second procedure.

Rare Presentation of Unilateral Chorio-Retinal Coloboma in a Patient with Bilateral Retinitis Pigmentosa

Inherited Retinal diseases are an incurable cause of visual morbidity occurring in children and young adults. Retinitis pigmentosa is one of the commonest examples of inherited retinal diseases with a prevalence of 1 per 4000 individuals. Colobomas are known to occur in approximately 1 per 10,000 people. Colobomas occur due to defective closure of the embryonic fissure between 6th–7th weeks of development fetal life, and are under diagnosed as they don’t cause symptoms until they involve the disc or macula or both. Retinitis pigmentosa and choroidal coloboma are known to usually exist as two separate entities. The fundus photo shows features of Retinitis pigmentosa, with an isolated chorio-retinal coloboma inferior to disc, in a 30 years old lady, who, presented with decreased peripheral vision and nyctalopia. There was no history of consanguinity. On evaluation she was found to have 6/6 vision bilaterally. Anterior segment was unremarkable in both eyes. Right eye fundus showed features of Retinitis pigmentosa. Humphrey Visual Fields 24-2 tests showed bilateral visual field defects, explaining the loss in peripheral vision. After extensive literature review, such association of unilateral coloboma in a patient with bilateral Retinitis pigmentosa, with no other systemic anomalies is extremely rare, and has been reported only in a few cases (Figure 1).

Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation

Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft palate, congenital heart disease, and abnormal skin pigmentations. The patient displayed iris, choroidal, and retinal coloboma and agenesis of the corpus callosum and cerebellar vermis hypoplasia. Cytogenetic analysis revealed a karyotype 45,X,der(X)t(X;14)(q24;q11)[85]/46,XX,rob(14;14)(q10;q10),+14[35]. Array-CGH for blood and buccal mucosa showed high mosaic trisomy 14 and an Xq deletion. MLPA detected trisomy 14 in blood and buccal mucosa and also showed normal methylation of the imprinting center. FISH analysis confirmed the cell line with trisomy 14 (30%) and demonstrated the mosaic deletion of the Xq subtelomere in both tissues. There was 100% skewed X inactivation for the t(X;14). SNP analysis of the patient showed no region of loss of heterozygosity on chromosome 14. Also, genotype call analysis of the patient and her parents showed heterozygous alleles of chromosome 14 with no evidence of uniparental disomy. Our patient had a severe form of mosaic trisomy 14. We suggest that this cytogenetic unique finding that involved 2 cell lines with structural abnormalities of chromosome 14 occurred in an early postzygotic division. These 2 events may have happened separately or maybe there is a kind of trisomy or monosomy rescue due to dynamic cytogenetic interaction between different cell lines to compensate for gene dosage.

Retinal detachment due to unrecognized retinal dialysis in a patient with choroidal coloboma

Retinal detachment due to unrecognized retinal dialysis in a patient with choroidal coloboma

Clinical Spectrum and Long-Term Anatomical and Functional Outcomes of Pars Plana Vitrectomy in Retinal Detachments Associated With Choroidal Coloboma.

Choroidal coloboma (CC) eyes are associated with a high risk of retinal detachment (RD), which are challenging to repair. We retrospectively evaluated medical records of 30 patients with CC associated with RD who underwent pars plana vitrectomy at our tertiary care center. Data recorded were age, CC and RD morphology, breaks, resurgeries performed, and final outcome. Patients' ages ranged from 2 to 49 years. CC was present in 53 of 60 eyes (88%), with 41 of 60 eyes (68.3%) associated with iris coloboma. RD was present in 36 of 53 CC eyes (67.9%), with 10 of 53 (18.9%) having bilateral RD. Thirty-one eyes with RD underwent 23-gauge pars plana vitrectomy. Colobomatous region breaks were detected in 5 of 31 eyes (16.1%), peripheral breaks only in 12 of 31 (38.7%), and both types in 3 of 31 eyes (9.7%). Silicone oil endotamponade was used in 29 of 31 eyes (93.5%) and perfluoropropane (C3F8) in 2 of 31 eyes (6.45%). Median postoperative follow-up duration was 31.5 months. Fourteen of 31 eyes (45.2%) developed redetachment requiring resurgery, with 50% developing within 6 months. Eighteen of 31 eyes (58.1%) maintained retinal attachment at last follow-up without endotamponade, whereas the rest were oil filled. Final visual outcome between macula-involved and macula-spared CC eyes was not significantly different; however, best visual acuity achieved any time during follow-up was significantly better in macula-spared eyes. RD surgery in CC eyes has a risk of frequent redetachments and subnormal gain of vision over the long term, especially in colobomas involving the macula. Endolaser in 360° peripheries in addition to barrage of the margin of the coloboma may be considered to help maintain the attached retina.

Swept-Source OCT Analysis of the Margin of Choroidal Coloboma: New Insights

To study the retinal architecture and vitreoretinal interface at the edge of choroidal coloboma using swept-source OCT. Prospective observational case series at a tertiary eye care center. Patients with choroidal coloboma treated at an ophthalmology department and fulfilling the inclusion criteria of the study. Swept-source OCT was carried out in 30 eyes of 20 patients with choroidal coloboma. The primary objective was to describe the OCT features at the margin of the coloboma. Swept-source OCT of the coloboma margin revealed new features in addition to the previously described findings. Two types of transition from normal retina into intercalary membrane (ICM) were noted: abrupt (73.33%) and gradual (26.67%). Outer retinal layers (interdigitation zone and ellipsoid zone) terminated at a variable distance before the retinal pigment epithelium in 56.67% of eyes. Cystic spaces in the ICM (46.67%), schisis-like spitting of the ICM (30%), and breaks in the ICM (6.67%) were seen as well. Subclinical retinal detachment (RD) was also noted in 1 eye. The peculiar features noted at the vitreoretinal interface included vitreous attachment at the coloboma margin (23.33%), vitreous condensation (6.67%), and hill like projections of ICM into the vitreous cavity (26.67%). In the region of the coloboma, sclera and Tenon's capsule could also be analyzed as a hyperreflective lamellar structure and an irregularly arranged less hyperreflective structure. Swept-source OCT of the coloboma margin revealed various new features in addition to those described previously. The detection of subclinical RD or early termination of outer retinal layers in selected cases may be helpful in guiding new management protocols.