Chorioretinal Coloboma Research Articles

Bilateral Coloboma with Bilateral Cataract with Microcornea Left Eye-A Case Report

An 18 year old boy presented with complaint of diminution of vision since 1 month. Ocular examination revealed BCVA of 6/12 in right eye and 6/60 in left eye. Anterior segment examination showed infero nasal coloboma both eyes. Fundus examination showed an inferior choroidal coloboma in right eye and inferior chorioretinal coloboma in left eye. Patient was diagnosed to have bilateral typical coloboma with congenital cataract with microcornea left eye. Patient should have a complete general physical examination, growth evaluation so that early recognition and treatment is done if any syndrome is associated with this entity can occur.

Bilateral chorioretinal coloboma discovered with ultra-wide field retinal imaging

Uveal coloboma results from incomplete closure of the optic cup fissure. While conducting an evaluation of a new ultra-wide field retinal imaging camera (Optomap), which provides a view of the fundus up to 200° at one time without mydriasis, we discovered a case of bilateral chorioretinal coloboma in a 21-year-old student. The lesion was located in the midperiphery of each eye less than 2disc diameters (DD) below the optic disc in the inferonasal quadrants. The size of the coloboma in the right eye was 1.8DD in height and 1.3DD in width, while the left lesion was 2.4DD in height and 2.6DD in width. The subject was totally asymptomatic and without any complication such as retinal detachment or choroidal neovascularization, which often accompany this type of lesion. The visual field of each eye displayed an absolute scotoma corresponding to the size and location of the coloboma. No management was necessary but the subject was advised to report for visual examination at regular intervals because complications can occur at any age.

Forgotten achievements of Polish retinal research in international ophthalmology

The development of ophthalmology was greatly restricted in Poland in the 19th century, because it was partitioned and occupied by its three dominant neighbours. Polish medical universities were closed, and in Polish hospitals, only clinical work was possible. Those who wanted to study medicine and become ophthalmologists were forced to live and work in exile. Nevertheless, there were some Polish ophthalmologists at that time who had some international influence on retinal research. They contributed to colour vision physiology and pathology, ophthalmoscopy, retinal detachment and gyrate chorioretinal atrophy and congenital choroidal coloboma. The most prominent were Wiktor Szokalski, Ksawery Gałęzowski, Bolesław Wicherkiewicz, Kaziemierz Noiszewski and Michał Borysiekiewicz.

Occurrence and pattern of ocular disease in children with cholestatic disorders

To describe visual function and ocular manifestations in patients with onset of cholestasis during the neonatal period. Patients with neonatal cholestasis, either transitory or chronic, who came for assessment to our tertiary referral centre were included in a cross-sectional study and underwent ophthalmological examinations including fundus photography. A total of 57 patients (24 girls and 33 boys), aged 0.4-18.0 years, were included. Of these, 28 patients had biliary atresia, 11 had Alagille's syndrome, five had progressive familiar intrahepatic cholestasis and nine had different disorders such as pituitary insufficiency, alpha-1-antitrypsin deficiency, mitochondriopathy, congenital infections or cholestasis caused by unknown reasons. Visual dysfunction and/or one or several ocular manifestations occurred in 39 out of 57 patients. Major ocular malformations occurred in five patients. Out of three patients with biliary atresia, one patient had severe visual impairment caused by microphthalmia and chorioretinal coloboma, one patient with Cat Eye syndrome had bilateral uveochorioretinal coloboma and one patient had Rieger's anomaly. Two patients, both with pituitary deficiency and transient cholestasis, had severe unilateral visual impairment caused by optic nerve hypoplasia. The majority (68%) of the patients with cholestasis had ocular manifestations. Although the severity of ocular complications varied with diagnosis, and was most apparent among patients with biliary atresia or pituitary deficiency, no conclusion can be drawn regarding the connections between these conditions from the present study. Nevertheless, ocular assessment is important for diagnostic purposes and for early intervention in patients with cholestasis.

The Development of Recurrent Choroidal Neovascularization in a Patient with Choroidal Coloboma

We report a case of recurrent choroidal neovascularization (CNV) in an eye with chorioretinal coloboma. A 36-year-old woman presented complaining of decreased visual acuity (VA) in her left eye. Best corrected visual acuity (BCVA) was 20/200 and iris coloboma was observed. Funduscopy and fluorescein angiography (FA) showed CNV in the superior extrafoveal region with chorioretinal coloboma reaching just inferior to the optic disc. No other cause for CNV was observed except for the chorioretinal coloboma. BCVA improved to 20/30 after laser photocoagulation. She revisited our clinic for deteriorating VA (20/400) in the same eye 3 years after treatment. Funduscopy and FA demonstrated recurrent CNV with subfoveal hemorrhage. Photodynamic therapy (PDT) was followed by three consecutive intravitreal bevacizumab injections (IVB) for the subfoveally-located CNV. However, the CNV persisted with the appearance of a fresh subretinal hemorrhage. Additional PDT was combined with IVB on the same day 6 months after the initial PDT. The CNV regressed 3 months after treatment and has not recurred as of 8 months after the last treatment. The patient's BCVA improved to 20/60. This case suggests that PDT combined with IVB can be an alternative treatment for the management of recurrent CNV after laser photocoagulation in eyes with chorioretinal coloboma.

Unilateral Peters' Anomaly with Chorioretinal Coloboma in the Other Eye

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula. It is essential to examine the fundus in detail, if possible, in cases of Peters' anomaly, because these patients may have congenital anomalies such as chorioretinal coloboma.

Pseudoduplication of the optic disk.

The purpose of this study was to report a case of a chorioretinal coloboma mimicking a second optic disk in an asymptomatic 12-year-old boy. This is a case report. An asymptomatic 12-year-old boy presented with a chorioretinal coloboma of the right eye giving the impression of a second optic disk. The patient also had a superior visual field defect. True optic nerve duplication is a rare entity that can be mimicked by other etiologies, including choroidal colobomas and postinflammatory lesions, requiring careful examination by clinicians.

Neuroophthalmologische und ophthalmologische Befunde beim Joubert-Syndrom

Joubert syndrome (JS) belongs to the ciliopathies and is a mostly autosomal recessively inherited disease (in the case of OFD1 mutations, JS is an X-linked trait). It is characterised by midbrain-hindbrain malformations with developmental delay, hypotonia and ataxia and a broad spectrum of other facultative findings. The aim of our study was to examine the ophthalmological and neuro-ophthalmological features of JS in our patients and to compare our findings to those of other studies. In a retrospective study we evaluated the ophthalmological and neuro-ophthalmological findings of 9 consecutive patients who met the diagnostic criteria of JS. All patients had abnormalities of ocular motility, 4/9 used head thrusts to shift gaze (oculomotor apraxia OMA). In 6/8 patients, the optokinetic reflex (OKN) was absent. Furthermore, 8/9 children showed nystagmus, mostly see-saw nystagmus. Manifest strabismus was found in 8/9 while 3/9 had a retinopathy with either abnormal ERG and/or fundus appearance with or without visual impairment. Chorioretinal colobomata were present in 5/9 cases. Two patients showed a unilateral congenital ptosis, one a facial nerve paresis. The early neuro-ophthalmological findings in JS are not pathognonomic, but may lead to the diagnosis of JS. The syndrome should be suspected in patients with nystagmus, especially see-saw nystagmus, and abnormal OKN and/or OMA, and/or colobomata of the fundus, and further paediatric examinations should be initiated.

Choroidal melanoma in a patient with congenital bilateral chorioretinal coloboma: a case report of an extremely rare association of ocular comorbities

Clinicopathologic findings of a 44-year-old Caucasian male who presented with a congenital bilateral chorioretinal coloboma and later developed a large choroidal melanoma in his best seeing eye. The eye containing the malignant tumor was enucleated and the histopathologic findings confirmed the clinical diagnosis of choroidal melanoma, and in this case, an epithelioid cell type.

Update on ophthalmic molecular genetics

Abstract Purpose To provide an overview of the recent technological advances in human molecular genetics that can be applied in ophthalmic genetics. Methods Since the finalization of the Human Genome Project many novel genomic technologies emerged that led to significant advances in gene identification and genetic testing of hereditary eye disorders: (1) genomewide copy number screening (array CGH); (2) genomewide SNP genotyping; (3) next‐generation sequencing. Results (1) Microarray comparative genomic hybridisation or array CGH allows genomewide discovery of submicroscopic deletions and duplications in a single experiment. This technique is applied in routine molecular cytogenetic testing. Using array CGH a causal genomic defect can be found in at least 10% of all cases with mental retardation and/or multiple congenital anomalies. In ophthalmic genetics array CGH is mainly useful in the context of developmental eye disorders, with chorioretinal coloboma and anterior segment dysgenesis as an example. (2) Genomewide chip‐based SNP genotyping can be used for homozygosity mapping in inbred and outbred pedigrees. Recent successes in gene identification using this approach are illustrated. (3) Next‐generation sequencing or NGS. The application of this technology in gene identification and genetic testing of genetically heterogeneous conditions (with LCA as a paradigm) is discussed. Conclusion The rapid progress of genomic technologies such as array CGH, SNP chip analysis and next‐generation sequencing lead to a boost in gene identification and genetic testing of both developmental and retinal eye disease.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: Four additional patients

Background The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism. The phenotype is attributed to haploinsufficiency of two genes present in the minimal critical region of MDS: PAFAH1B1 (formerly referred to as LIS1) and YWHAE. Whereas isolated PAFAH1B1 deletion causes lissencephaly, YWHAE is a candidate for the dysmorphic phenotype associated with MDS. Objective We describe clinical, neuroradiological and molecular data in four patients with a 17p13.3 deletion distal to PAFAH1B1 involving YWHAE. Results All patients presented with mild or moderate developmental delay and pre and/or post-natal growth retardation. Patients A, B and C had neuro-imaging anomalies: leucoencephalopathy with macrocephaly (patients A and C), Chiari type 1 malformation (patient A) and paraventricular cysts (patient C). Patient B had patent ductus arteriosus and pulmonary arterial hypertension. Patient C had unilateral club foot. Patient D had enlarged Virchow Robin spaces, microcornea, and chorioretinal and lens coloboma. Array-CGH revealed de novo terminal 17p13.3 deletions for patient A and B, and showed interstitial 17p13.3 deletions of 1.4 Mb for patient C and of 0.5 Mb for patient D. In all patients, PAFAH1B1 was not deleted. Conclusion Our patients confirm that 17p deletion distal to PAFAH1B1 have a distinctive phenotype : mild mental retardation, moderate to severe growth restriction, white matter abnormalities and developmental defects including Chiari type 1 malformation and coloboma. Our patients contribute to the delineation and clinical characterization of 17p13.3 deletion distal to PAFAH1B1 and highlight the role of the region containing YWHAE in brain and eye development and in somatic growth.

Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma: A New Syndrome

To report a newly identified syndrome of bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma (MPPC). Noncomparative case series. Eight patients with MPPC syndrome. Clinical data collected retrospectively included visual acuity, findings on office examination as well as examination under anesthesia, and, in some cases, fluorescein angiography. Intraoperative findings and postoperative visual acuity and clinical findings were recorded when surgical intervention was performed. Clinical description, intraoperative findings, and surgical outcomes. All patients were found to have microcornea with corneal diameters of less than 8 mm. In all cases, the crystalline lens was found to be retrodisplaced with massive enlargement and a dramatic posterior lenticonus (posterior megalolenticonus), and the ciliary processes frequently were drawn to the lens capsule. A stalk of persistent fetal vascular tissue extended from the posterior pole of the lens to the optic disc. Posterior chorioretinal coloboma was present in all cases. Some cases also exhibited grossly dysplastic retina. Presentation frequently was asymmetric. Eight eyes of 6 patients underwent lensectomy, vitrectomy, membrane peeling, and fluid-Healon exchange (Healon OVD [sodium hyaluronate]; Advanced Medical Optics, Santa Ana, CA) with functional vision in at least 4 of the 5 patients with postsurgical follow-up. Bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma syndrome is a distinct syndrome previously unreported, to the authors' knowledge, and appropriate surgical intervention may result in significantly improved visual function.

A Case of Chorioretinal Coloboma in a Patient with Achondroplasia

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. Upon her initial visit, visual acuity was 0.3 in both eyes. The patient had telecanthus but normal ocular motility. Findings were normal upon anterior segment examination. Fundus examination of both eyes revealed about 1,500 µm sized chorioretinal coloboma inferior to the optic nerve head. Upon fluorescent angiography, there was chorioretinal coloboma without any other lesions. Afterward, there was no change in the fundus lesion, and best corrected visual acuity was 0.6 in both eyes. Chorioretinal coloboma is associated with choroidal and retinal detachment. As chorioretinal coloboma and achondroplasia are developmental disorders in the embryonic stage, early detection and regular ophthalmologic examination would be essential in patients with achondroplasia.

Pseudo-strabismus secondary to macular heterotropia: a case report and literature review

Aim: To present a case of pseudo-strabismus secondary to macular heterotropia, caused by retinopathy of prematurity (ROP). An overview is given of the literature on this subject. Methods: The case of a 9-year-old child born prematurely at 26 weeks’ gestation and who had cryotherapy treatment for stage 3 ROP, is reported with reference to her birth history and her ophthalmic, orthoptic and photographic findings. Results: The patient had a pseudo-exotropia resulting from an abnormal shifting of the macula known as macular heterotropia, an abnormal fundus appearance found in ROP, especially in eyes treated with cryotherapy. Macular heterotropia has been reported in conditions such as retinal tear, idiopathic retinal folds, persistent hyaloid vessels, chorioretinal coloboma, chorioretinisis, Toxocara canis, vitreous structural anomalies, and very high myopia. Conclusions: Orthoptists should be aware of the features of macular heterotropia and its associations with ROP and pseudo-strabismus.

Variable expressivity of ocular associations of foveal hypoplasia in a family

To show the variable expressivity of ocular associations of foveal hypoplasia in three affected members of a family. Three symptomatic members of a family underwent a detailed ophthalmic evaluation including best-corrected distance and near-vision measurement, colour vision assessment, fundus evaluation and fluorescein angiography, horizontal corneal diameter measurement, total axial length measurement, and full-field electroretinogram. Optical coherence tomography was performed in two of the three cases. Pedigree charting was also carried out. Foveal hypoplasia was shown in all three cases. Pedigree charting showed an autosomal recessive (AR) inheritance pattern of foveal hypoplasia in our series. Microphthalmos and chorioretinal coloboma were found to be variably associated with foveal hypoplasia in this series. This interesting case series shows that variable expressivity could be found in AR inheritance patterns of foveal hypoplasia.

Seeing clearly: the dominant and recessive nature ofFOXE3in eye developmental anomalies

FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary aphakia and anterior segment dysgenesis. Here, we identify new recessive FOXE3 mutations causative for microphthalmia, sclerocornea, primary aphakia, and glaucoma in two extended consanguineous families by SNP array genotyping followed by a candidate gene approach. Following an additional screen of 236 subjects with developmental eye anomalies, we report two further novel heterozygous mutations segregating in a dominant fashion in two different families. Although the dominant mutations were penetrant, they gave rise to highly variable phenotypes including iris and chorioretinal colobomas, Peters' anomaly, and isolated cataract (cerulean type and early onset adult nuclear and cortical cataract). Using in situ hybridization in human embryos, we demonstrate expression of FOXE3 restricted to lens tissue, predominantly in the anterior epithelium, suggesting that the extralenticular phenotypes caused by FOXE3 mutations are most likely to be secondary to abnormal lens formation. Our findings suggest that mutations in FOXE3 can give rise to a broad spectrum of eye anomalies, largely, but not exclusively related to lens development, and that both dominant and recessive inheritance patterns can be represented. We suggest including FOXE3 in the diagnostic genetic screening for these anomalies.

Rupture sclérale spontanée révélée par une maculopathie d’hypotonie

Cases of a spontaneous scleral rupture are very uncommon. Their diagnosis can be challenging because the scleral lesion might be invisible on clinical examination. We describe herein one case revealed by hypotony maculopathy. A 30-year-old woman presented with severe visual loss in one eye caused by sudden hypotony. Funduscopy revealed a chorioretinal coloboma in the periphery of the retina associated with a hypotony maculopathy. Extensive work-up included optical coherence tomography (OCT), fluoroangiography, ultrasonography, and magnetic resonance imaging examinations. A search for infectious and inflammatory diseases was conducted. Inflammatory and infectious work-ups were not contributive. A surgical exploration was performed, which showed a spontaneous scleral perforation within the coloboma. A patch of polytetrafluoroethylene was sutured on the damaged sclera and air was injected into the vitreous cavity. Vision and ocular pressure were rapidly restored. Spontaneous scleral rupture cases associated with hypotony and visual loss are rare, with only a few cases reported in the literature. Hypotony maculopathy with sclerochoroidal lesion may be the cause of such cases. Excellent outcome can be obtained with surgical diagnosis and repair.

A Case of Coloboma in a Newborn to a Woman Taking Mycophenolate Mofetil in Pregnancy After Kidney Transplantation

Recently, mycophenolate mofetil (MMF) has been introduced in the immunosuppressive strategy after kidney transplantation. Recently, the existence of a MMF associated embriopathy has been hypothesized, namely, multiple craniofacial malformations. Only 1 report has described chorioretinal coloboma. We report a case of woman who used MMF throughout pregnancy after kidney transplantation. Her newborn developed coloboma of the right eye associated with an ocular cyst without any other malformation. The other drugs used by our patient are not considered teratogenic. Therefore, it seems reasonable to conclude a causal relationship between MMF and the malformation observed in this newborn.

Intraoperative performance and postoperative outcomes of cataract surgery in infant eyes with microphthalmos

To report the intraoperative performance and postoperative outcomes in microphthalmic eyes of infants younger than 1 year having bilateral cataract surgery. Iladevi Cataract & IOL Research Centre, Ahmedabad, India. This prospective observational study excluded eyes with ocular trauma, inflammation, posterior persistent fetal vasculature causing stretching of the ciliary processes or tractional retinal detachment, aniridia, or chorioretinal coloboma. Intraoperative observations included the rate of peripheral extension of the anterior capsule tear, intraoperative iris prolapse/trauma, and posterior capsule tear. All eyes were left aphakic. Postoperative observations included visual outcome, posterior synechias, visual axis obscuration (VAO), and glaucoma. The study evaluated 42 eyes of 21 infants. The mean age at surgery was 4.0 months +/- 2.6 (SD) and the mean follow-up, 25.6 +/-11.3 months. Surgery was performed using the limbal approach in 30 eyes (71.4%) and by pars plicata lensectomy in 12 eyes (28.6%). In the limbal group, 3 eyes (10.0%) had an incomplete anterior capsulorhexis, 2 eyes (6.7%) had iris trauma, and 2 eyes (6.7%) had peripheral extension of the posterior capsulectomy edge. At the final follow-up, visual acuity remained stable in 4 eyes (9.5%) and was improved in 38 eyes (90.5%). The complications were posterior synechias in 15 eyes (35.7%), glaucoma in 13 eyes (30.9%), and VAO in 7 eyes (16.7%). The results suggest that good visual outcomes can be obtained in microphthalmic patients with bilateral congenital cataract after early surgical intervention, with an acceptable rate of serious postoperative complications.

A Case of Chorioretinal Coloboma in Triple X Syndrome

Purpose: To report the case of a child with triple X syndrome presenting with exotropia and chorioretinal coloboma. Case summary: A one-year-old female infant presented with 35PD exotropia in the primary position. The patient had poor fixation of the right eye, and a fundus examination showed chorioretinal coloboma in the inferior region of her right eye. The patient also exhibited syndactyly of the right hand. Brain magnetic resonance imaging revealed a well-defined 2 cm cyst in the right cerebellum. Upon chromosomal study, the patient’s karyotype was found to be 47, XXX. Conclusions: When infants or children present with ophthalmologic findings such as strabismus and coloboma, systemic conditions and congenital problems should be considered.