Retinochoroidal Coloboma Research Articles

The Red Reflex Test and Leukocoria in Childhood.

The red reflex test, performed using a direct ophthalmoscope, serves as a critical diagnostic tool in identifying various ocular conditions. These conditions encompass retinal anomalies (such as retinoblastoma, Coats disease, retinopathy of prematurity, familial exudative vitreoretinopathy, myelinated nerve fibers, ocular toxocariasis, ocular toxoplasmosis, retinochoroidal coloboma, astrocytic, and combined hamartoma), vitreous abnormalities (including persistent fetal vasculature), lens issues (like cataract), anterior chamber and corneal conditions (comprising dysgenesis of the anterior segment, congenital glaucoma, birth trauma), and tear film disturbances. During this examination, the presence of leukocoria, characterized by a white pupillary reflex, can suggest the presence of underlying conditions. Any suspicion of an abnormal red reflex test warrants immediate evaluation by a qualified ophthalmologist. This article primarily underscores the paramount importance of the red reflex examination, not only to identify potential sight-threateningbut also life-threatening conditions. It delves into the most common causes of leukocoria in childhood and offers insights into a comprehensive diagnostic approach. The target audience for this article includes pediatricians, primary care clinicians, and ophthalmologists, all of whom play a pivotal role in the early detection and intervention of these critical eye disorders.

Ocular Albinism with Unilateral Retinochoroidal Coloboma and Retinal Detachment

Ocular Albinism with Unilateral Retinochoroidal Coloboma and Retinal Detachment

Prescribing patterns of low-vision devices in retinochoroidal coloboma

Prescribing patterns of low-vision devices in retinochoroidal coloboma

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.

Unilateral isolated macular coloboma with full-thickness macular hole—Case report

Coloboma is a very rare developmental anomaly. The most common form is retinochoroidal coloboma. Macular coloboma is a very rare occurrence. We describe a rare case of unilateral isolated macular coloboma with full-thickness macular hole.

Frying egg in pan appearance-dislocated lens into the retinochoroidal coloboma

Frying egg in pan appearance-dislocated lens into the retinochoroidal coloboma

Coloboma of the Retina, Choroid and Iris Co-Existing with Cardiac & Skeletal Anomalies in a Male Nigerian

A 19-year-old male undergraduate presented to the eye clinic with a history of poor vision in the left eye since childhood. The best-corrected visual acuity was 6/6 in the right eye and hand movement in the left eye respectively. Examination of the anterior segment of the right eye was essentially normal, whereas the anterior segment examination of the left eye revealed a small globe, microcornea, and an iris coloboma inferiorly at the 6 o'clock position. Binocular indirect ophthalmoscopy of the right eye revealed a pink disc, normal vessels and macula, lattice degeneration with retinal holes, and a flat retina. The left eye had a pink disc, normal macula and vessels with an inferior arc-shaped excavation with exposure of the sclera, which involved both the disc and macula and was in keeping with a retinochoroidal coloboma. Systemic examination revealed low-set ears with a left atrophic pinna, mild kyphoscoliosis, pectus excavatum, and an atrophic left lower limb with anomalies of the toes and talipes equinovarus. A pan-systolic murmur was present on cardiovascular examination.

Clinical and Demographic Profile of Uveal Coloboma: A Hospital-Based Study of 14,371 Eyes of 9557 Indian Patients

To describe the demographics and clinical profile of uveal coloboma in patients presenting to a multi-tier ophthalmology hospital network in India. Cross-sectional hospital-based study. This cross-sectional, hospital-based study included 2,817,766 new patients presenting between August 2010 and May 2021. Patients with a clinical diagnosis of uveal coloboma in at least 1 eye were included as cases. Data were collected using an electronic medical record system. Overall, 9557 patients (0.34%) were diagnosed with uveal coloboma. Just over half of the patients were male (51.82%) and were affected bilaterally (50.37%). The most common age group at presentation was individuals in the second decade of life, comprising 2198 patients (23%). The overall prevalence was higher in patients of lower socio-economic status (0.53%) and from rural areas (0.39%). The most common type was retino-choroidal coloboma in 8049 patients (84.22%), followed by iris coloboma in 2129 patients (22.28%). The most common Ida Mann classification in the eyes with retino-choroidal coloboma was type 4 in 7049 eyes (57.23%), followed by type 2 in 3685 eyes (29.92%). Of the 14,371 eyes, 5696 eyes (39.64%) had a visual impairment of blindness (>20/400), followed by mild or no visual impairment (<20/70) in 2875 eyes (20.01%). In the 2228 eyes (15.5%) that required a surgical/ laser intervention, cataract surgery was performed in 951 eyes (6.62%), vitreo-retinal surgery in 661 eyes (4.6%), followed by laser photocoagulation in 357 eyes (2.48%). Uveal coloboma is more common in male individuals and is predominantly bilateral in the population studied. It is more commonly found in patients from lower socio-economic strata and from a rural background. The most common type is retino-choroidal coloboma, and more than one-third of the eyes are affected by blindness.

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report

BackgroundCHARGE syndrome is a relatively common cause of deafness and blindness resulting from failure to form the primordia of specific organs due to deficient contribution of neural crest cell derivatives. The majority of CHARGE syndrome cases are caused by heterozygous mutations in CHD7 on chromosome 8q21. Those with CHARGE syndrome without CHD7 mutation typically do not have an identified genetic defect. 7q11.23 duplication syndrome is associated with mild facial dysmorphism, heart defects, language delay, and autism spectrum disorder. In the current literature, 7q11.23 duplication has not been associated with CHARGE syndrome, retinochoroidal colobomas, or significant ear abnormalities.Case presentationWe describe a patient with 7q11.23 duplication syndrome and clinical CHARGE syndrome with no variant in CHARGE-associated genes.ConclusionsThis case highlights the still incomplete understanding of the pathogenesis of CHARGE syndrome and raises the possibility of a dose-sensitive effect of genes in the 7q11.23 critical region on neural crest differentiation and fate.

Colobome rétinochoroïdien englobant le nerf optique dans un syndrome CHARGE

Colobome rétinochoroïdien englobant le nerf optique dans un syndrome CHARGE

Multicolour imaging in retinochoroidal coloboma

Retinochoroidal colobomas are congenital.1997 They can be sporadic or inherited. Multicolour imaging (MCI) is a new non‐invasive retinal imaging modality available on the Spectralis platform. We he...

Poland syndrome with retinochoroidal coloboma: A rare association

A 58 year aged man with the Poland syndrome is presented with left pectoralis major muscle, hypoplasia of the left arm, symbrachydactyly, and ipsilateral coloboma of the optic disc.

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

BackgroundJoubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive impairment and, the molar tooth sign is the pathognomonic midbrain-hindbrain malformation on magnetic resonance imaging. The disorder is predominantly caused by biallelic mutations in more than 30 genes encoding proteins with a pivotal role in morphology and function of the primary cilium. Oligogenic inheritance or occurrence of genetic modifiers has been suggested to contribute to the variability of the clinical phenotype. We report on a family with peculiar clinical spectrum Joubert syndrome molecularly and clinically dissecting a complex phenotype, in which hypogonadism, pituitary malformation and growth hormone deficiency occur as major features.Case presentationA 7 year-old male was enrolled in a dedicated “Undiagnosed Patients Program” for a peculiar form of Joubert syndrome complicated by iris and retinochoroidal coloboma, hypogonadism pituitary malformation, and growth hormone deficiency. The molecular basis of the complex phenotype was investigated by whole exome sequencing. The concomitant occurrence of homozygosity for mutations in KIF7 and KIAA0556 was identified, and the assessment of major clinical features associated with mutations in these two genes provided evidence that these two independent events represent the cause underlying the complexity of the present clinical phenotype.ConclusionBeside the clinical variability of Joubert syndrome, co-occurrence of mutations in ciliopathy-associated genes may contribute to increase the clinical complexity of the trait.

A rare case of stickler marshall syndrome

A 35 year old female presented to us with sudden painless diminution of vision in the right eye (RE) since 10 days. There was no history of trauma. She gave systemic history of hearing loss since 4 years of age and also complained of joint pains on and off for which she was taking medical treatment. Best corrected visual acuity in the RE was Hand movements (HM+) and in the left eye (LE) was 20/20 with -5D spherical correction. Anterior segment examination in the RE revealed horizontal jerky nystagmus, typical complete inferonasal iris coloboma with aphakia in primary gaze(Figure 1). On examining the eye in downgaze on slit lamp, heterogenous lenticular opacity could be seen in the anterior vitreous phase suggestive of spontaneously dislocated crystalline lens in the vitreous cavity(Figure 2). LE anterior segments was within normal limits. Fundoscopy of the RE revealed Type 4 Retinochoroidal(RC) coloboma (Ida Mann's classification) with posterior vitreous detachment (PVD) and LE fundus was normal. Ultrasound B scan of the RE revealed dislocated crystalline lens in the vitreous cavity with PVD and RC coloboma thus confirming the findings(Figure 3,4,5). The patient was planned for pars plana vitrectomy with lensectomy in the RE.

Spontaneous scleral rupture associated with retinochoroidal coloboma

Abstract We reported a case of ocular hypotony due to spontaneous scleral rupture in retinochoroidal coloboma and the treatment which was performed. This is a prospective case report in which a 21-year-old woman complained of abrupt vision loss in her left eye. Ocular hypotony due to spontaneous scleral rupture in retinochoroidal coloboma was identified through tests. An ultrassonography confirmed the scleral lesion but magnetic resonance imaging and fluorescein angiography have also proven to be useful. Due to the posterior location of the perforation, we opted for a sub-tenon injection of autologous blood and intraocular gas tamponade, which were successful, resulting in improved visual acuity and intraocular pressure. In this case, an alternative to invasive surgical procedure in the treatment of spontaneous scleral perforation and retinochoroidal coloboma was presented.

Retinochoroidal Coloboma in a Female Nigerian

We report a case of retinochoroidal coloboma in a 32 year old Nigerian female who first presented to the eye outreach clinic with a history of poor vision in the left eye of two years duration. The best corrected visual acuity was 6/5 and light perception with accurate light projection in the right and left eyes respectively. She was subsequently referred to the retina clinic for Neodymium:yttrium- aluminium- garnet (Nd:YAG) laser capsulotomy on account of a left posterior capsular opacity after cataract surgery at the eye outreach clinic with a best corrected visual acuity of 6/5 and 6/36 respectively in the right and left eye. Dilated binocular indirect ophthalmoscopy of the left eye revealed a large, wedge-shaped, excavated retinochoroidal defect with hyperpigmented edges involving the nasal retina extending across approximately five clock hours from 7 to 10 o’clock. The apex of the coloboma was approximately three disc diameters away from the optic nerve head and extended peripherally up to the ora serrata. The right fundus was normal. Retinochoroidal colobomas may occur in the absence of the known blinding sequelae like retinal detachment, choroidal neovascular membrane amongst others. Our patient had a cataract in the same eye with the retinochoroidal coloboma with subsequent visual gain post-surgery and increasing myopia.

Persistent fetal vasculature with colobomatous cystic optic disc in a microphthalmic eye: A clinicopathological case report

Aim: To present a rare clinico-pathological case of persistent fetal vasculature with colobomatous cystic optic disc in a micro-ophthalmic eye. Method: A case report. Results: An 8 year boy presented to the tertiary eye care center was diagnosed as micro-ophthalmos, microcornea, inferior iris coloboma with suspected retinochoroidal coloboma in right eye (OD). Ultrasound B scan of OD was done which confirmed the above findings along with the presence of membranous echoes attached to the disc. On MRI of right orbit, retinal detachment with colobomatous cyst in the posterior aspect of the eyeball was present. OD was enucleated with parenteral consent and silicon ball and socket reconstruction was done. We thereafter examined the enucleated eyeball grossly as well as by histopathological examination. Herein, we present the pathological features of a case of persistent fetal vasculature (PFV) supported by gross and microscopic examination with a special emphasis on the presence of colobomatous cystic optic disc in a micro-ophthalmic eye. Conclusion: This is one of the rare associations of PFV making this original report a unique one.

A case of choroidal osteoma in a 5‐year‐old child

AbstractPurposeTo report a case of choroidal osteoma (CO) in a 5‐year‐old boy.MethodsCase reportResultsA 5‐year‐old child presented with decreased vision in both eyes. His best‐corrected visual acuity (BCVA) was 20/50 in the right eye (OD) and 20/100 in the left eye (OS). The anterior segment was normal in both eyes. Cycloplegic refraction was +2.50 ‐2.25 x 10 in the OD and +3.25 ‐2.50 x 180 in the OS. Funduscopy of the OS revealed a large subretinal, yellowish lesion in the juxta‐papillary area. B‐scan ultrasonography of the OS revealed a dense echogenic plaque with acoustic shadowing. The axial CT scan also showed a calcified lesion in the posterior pole. Optical coherence tomography (OCT) was normal at the fovea but revealed subretinal fluid (SRF) at the superior temporal vascular arcade. Spectacle correction was prescribed and alternating part‐time occlusion was performed. The patient was asked to come for regular follow‐up. Six months later his BCVA was 20/25 in both eyes, no variations of the mass were noted and the SRF disappeared.ConclusionsOC is a rare, benign ossifying tumor. It is typically found in healthy young women, mostly unilateral, in the posterior pole of the eye, near the optic disc. It is relatively rare in children. OC must be differentiated mainly from amelanotic choroidal melanoma, choroidal nevus, choroidal hemangioma, choroidal metastasis, sclerochoroidal calcification and posterior scleritis. In children it can pose a serious diagnostic challenge as it can mimic other lesions at posterior pole, such us retinoblastoma, retinochoroidal coloboma, and toxoplasmic retinochoroiditis. Asymptomatic or stable CO can be observed. For choroidal neovascular membranes photodynamic therapy and laser treatment have been used in the past. More recently, anti‐VEGF treatments have been employed with success.

Association of Pediatric Choroidal Neovascular Membranes at the Temporal Edge of Optic Nerve and Retinochoroidal Coloboma

To describe the characteristics of pediatric choroidal neovascular membranes (CNVs) associated with retinochoroidal and optic nerve coloboma using optical coherence tomography (OCT) and their response to treatment. Retrospective case series. Retrospective review of children <16 years of age with CNV and retinochoroidal and optic nerve coloboma from 1995-2015 who underwent OCT imaging using either handheld (Bioptigen, Morrisville, NC) or tabletop OCT (Spectralis; Heidelberg, Carlsbad, CA). Eight eyes of 8 patients (3 males, 5 females) with a mean age of 4.1 ± 3.9 years (range 6months-10 years) at diagnosis were included. Mean follow-up was 21.4 ± 12.1months (range 7-38months). An optic nerve coloboma was present in 2 eyes and combined optic nerve and retinochoroidal coloboma in 6 eyes. In all eyes, CNVs were located at the temporal margin of the coloboma closest to the macula. Fluorescein angiogram characteristics included staining without leakage suggesting inactivity (n= 6) and leakage (n= 2). OCT characteristics included subretinal fluid (n= 5), intraretinal fluid and cysts (n= 1), and subretinal hyperreflective material (n= 7). Two eyes received intravitreal bevacizumab (range 3-6) injections, one of which also underwent focal peripapillary laser. Both eyes showed improvement in subretinal or intraretinal fluid on OCT. Vision at presentation among those quantified ranged from 20/200 to 20/40 and at final follow-up from 20/400 to 20/30. Genetic or systemic abnormalities were seen in 6 patients. Association of pediatric CNV occurrence at the temporal margin of retinochoroidal and optic nerve colobomas closest to the fovea has notbeen established before and careful OCT and angiographic assessment of this region is warranted. The CNV lesionsexhibit a varied degree of response to treatment.