Optic Disc Anomalies Research Articles

Paroxysmal Amaurosis Accompanied by Dissociated Vertical Deviation in an Adult With Congenital Cavitary Optic Disc Anomaly and Patent Foramen Ovale.

Paroxysmal Amaurosis Accompanied by Dissociated Vertical Deviation in an Adult With Congenital Cavitary Optic Disc Anomaly and Patent Foramen Ovale.

MORNING GLORY SYNDROME:A RARE ENTITY

Morning glory syndrome is a rare congenital optic disc anomaly that can cause visual impairment and may be linked to ocular and non-ocular abnormalities. It is characterized by a distinct fundoscopic appearance, which includes a large excavated disc with radial vessels and a central turf of glial tissue within a funnel-shaped excavation of the posterior fundus. In this case report, we present a female middle aged, with this uncommon congenital optic disc anomaly.

Refractory Central Serous Retinal Detachment in the Presence of Optic Disc Pit – Case Report

Among congenital optic disc anomalies are megalopapilla, optic nerve aplasia and hypoplasia (de Morsier’s syndrome) and optic disc excavations. The latter are attributed to abnormal fetal fissure’s closure. There is a wide spectrum of these anomalies ranging from single optic disc pit, to multiple pits, to morning glory syndrome. Excavated defects of the optic disc are usually associated with retinal detachment in the macular region. It is usually confined to the macular region though a subtotal or total retinal detachment may occur. It requires treatment (a surgical approach in most cases) though a spontaneous resolution of the subretinal fluid within a short period of the detachment onset has been observed. We report a case of unilateral central serous retinal detachment in the presence of a bilateral optic disc pit refractory to primary treatment.

Congenital Optic Disc Anomalies: Insights from Multimodal Imaging.

In this comprehensive review, we delve into the significance of multimodal imaging in diagnosing and managing complications of congenital optic disc anomalies. While the fundus examination is the gold standard tool in the diagnosis of these pathologies, spectral domain (SD) optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) could shed light on the pathogenesis and treatment. Moreover, this review seeks to offer a comprehensive insight into the multimodal approach of these rare congenital pathologies. In conclusion, congenital anomalies of the optic nerve represent a major challenge for ophthalmologists. Further research could be useful to clarify the pathophysiology of these diseases and define a correct and more specific treatment approach.

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

BackgroundClassic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases...

Radial peripapillary capillary network in optic disc anomalies with abnormal tissues on disc surface.

Optic disc anomalies with abnormal tissue on the disc surface includes, myelinated nerve fiber, optic disc drusen, and Bergmeister papillae. Imaging the radial peripapillary capillary (RPC) network in optic disc anomalies with optical coherence tomography-angiography (OCTA) can give information on the RPC network in these conditions. This video describes the OCTA of optic nerve head and RPC network using the angio disc mode in cases of optic disc anomalies with abnormal tissue on the disc surface. This video presents characteristic features of RPC network in one eye each of myelinated nerve fiber, optic disc drusen, and Bergmeister papillae. OCTA in optic disc anomalies with abnormal tissue on the disc surface show a dense RPC microvascular network. OCTA is an effective imaging modality to study vascular plexus/RPC and their alteration in these disc anomalies. https://youtu.be/zlflgijy56c.

Autologous retinal transplant for refractory serous retinal detachment secondary to optic disc pit: a novel surgical approach Retinal transplant and optic disc pit.

To present a new technique to treat refractory retinal detachment secondary to optic disc pit. An interventional case report. A 25-year-old man with congenital optic disc pit had two failed vitrectomies involving laser around the optic disc, internal limiting membrane peel and flap to plug the disc pit, and gas tamponade to reattach the retina. With all options running out, a further vitrectomy with autologous retinal transplant and silicone oil tamponade was carried out to treat the refractory serous retinal detachment; the silicone oil was removed at 6 weeks after the last procedure. The retina remained successfully attached at 6 months post-surgery with the patient maintaining his baseline visual acuity. The use of autologous retinal transplant is a new approach to treat refractory retinal detachment secondary to congenital optic disc anomalies, and adds to our options of dealing with this complex condition when first-line approaches have failed.

Morphology of Serous Retinal Detachment in Morning Glory Optic Disc Anomaly in a Patient before and after Treatment with Systemic Carboanhydrase Inhibitors

Morning glory optic disc anomaly (MGODA) is a rare congenital defect of the optic nerve head. The optic nerve is enlarged, and its conical excavation is filled with glial tissue. It may be associated with cerebral malformations and ocular complications, whereas serous retinal detachment occurs in 38% of affected patients. Surgical treatment of detachment showed poor visual outcome in the past and conservative treatment options are scarce. A woman with MGODA presented in our clinic with sudden vision loss due to serous retinal detachment. She denied any previous ophthalmological problems and her past medical history was unremarkable. Vision testing showed normal visual acuity in her left eye and finger counting in her right eye. Slit lamp examination was unremarkable. Fundus examination of the right eye showed retinal detachment without holes or traction membranes and an enlarged optic disc with raised peripapillary tissue and glial tissue in the center of the optic disc. Due to the pathognomonic otpic disc finding, we diagnosed MGODA complicated by a serous retinal detachment. We treated the patient with systemic carboanhydrase inhibitors and documented the initial clinical findings as well as the course of disease under treatment by optical coherent tomography (OCT), fundus autofluorescence imaging (FAF), and visual field testing. During follow-up, we detected noticeable subretinal fluid regression and improvement in visual acuity. The application of oral carboanhydrase inhibitors appears to be a valid therapeutic option in patients with MGODA-associated serous macular detachment. OCT and FAF imaging are useful modalities for documentation of subretinal fluid regression and structural changes in the peripapillary region.

The prevalance of congenital optic disc anomalies in Turkey: a hospital-based study

The aim of this study was to investigate the prevalence of congenital optic disc anomalies in Turkey. The 11,123 eyes of 5570 patients were screened for optic disc anomalies. All patients were underwent a complete ophthalmic examination including best corrected visual acuity, refraction, spherical equivalent, slit lamp biomicroscopy, intraocular pressure measurements, dilated stereoscopic fundus examination. Data analyses were performed by using SPSS for Windows, version 22.0 (SPSS Inc., Chicago, IL, United States). 11,123 eyes of 5570 participants were screened. Of the 5570 participants who underwent optic disc examination, 246 eyes of 174 patients (3.12%, 95% CIs 2.66-3.58%) had optic disc anormalies. 92 (52.9%) were female, 82 (47.1%) were male and the mean of age was 44.25 ± 15.67years. 72 (41.4%) patients were bilateral, 102 (58.6%) patients were unilateral involvement. The tilted disc was the most common anomaly and was found at least one eye in 46 patients (75 eyes) and 0.83% of all screened patients. Peripapillary myelinated nerve fibers was the second common anomaly and was found at least one eye in 31 subjects (35 eyes) and 0.56% of all screened subjects. Peripapillary atrophy was the third common anomaly, and was found in at least one eye in 24 patients (37 eyes) and 0.43% of all screened subjects. To our knowledge, this is the first study that the prevalences of all congenital optic disc anomalies from Turkey. The prevalence of congenital optic disc anomalies is higher than in other countries.

Optic Disc Anomalies with Excavation in the Disc (Optic Disc Pit, Morning Glory Disc Anomaly, Optic Disc Coloboma, Peripapillary Staphyloma)

Optic disc pits, optic disc coloboma, morning glory disc anomaly, and peripapillary staphyloma are the leading optic disc anomalies with excavation in the disc. These anomalies can be seen together with some syndromes and in this case, can be evaluated as part of the spectrum of the disease. However, when looking at each anomaly in terms of its pathogenesis and embryological origin, a different etiopathogenesis comes to the fore. In addition, ocular/systemic relations with anomalies may differ, and in this case, it is interpreted that each anomaly should be considered as a different disease. In this article, optical disc anomalies with excavation in the disc are discussed and current clinical findings, diagnosis, and treatment are revealed.

Congenital Optic Nerve Anomalies with Optical Disc Swelling

Pseudopapilledema is an abnormal elevation of the optic disc due to congenital reasons without increased intracranial pressure. The main causes of congenital optic disc swelling are optic disc drusen, myelinated retinal nerve fibers, hyaloid artery remnants, and congenital optic disc pigmentation. In the differential diagnosis of these conditions, papilledema should be firstly considered and ruled out. In pseudopapilledema, the disc swelling is localized only on the disc. There is no peripapillary nerve fiber layer edema, bleeding, and exudation due to venous congestion. The disc appears normal yellow in color and the optic cupping is small or absent. There may be abnormal vascular vessels on the optic disc. These diseases are generally asymptomatic. However, it is necessary to follow up in terms of complications that may accompany, albeit rarely. In this review, congenital optic disc anomalies with optic disc swelling including optic disc drusen, myelinated retinal nerve fiber, hyaloid artery remnants, and congenital optic disc pigmentation will be discussed.

Hand-held optical coherence tomography: Advancements in detection and assessment of optic nerve abnormalities and disease progression monitoring

Introduction Developmental abnormalities of the optic nerve (ON) and pediatric optic neuropathies such as glaucoma, are leading causes of childhood blindness. The recent development of hand-held spectral domain optical coherence tomography (HH-OCT) has enabled noncontact, high-resolution scanning in non-sedated newborns, infants and young children and has provided for the first time, in vivo visualization of the retina and ON in these patient groups. Areas covered This review will address the applications, recent advances and future potential of HH-OCT in diagnosis and monitoring of pediatric optic neuropathies. We will provide an update on the use of HH-OCT in pediatric glaucoma, congenital optic disc anomalies, optic pathway gliomas, optic atrophy and papilledema. Expert opinion HH-OCT could offer particular utility in children with optic neuropathies, by providing noninvasive, high-resolution characterization of the optic nerve head. Optic nerve parameters, such as retinal nerve fiber layer thickness, could serve as biomarkers to assess the severity of optic nerve disease qualitatively and quantitatively. Hence, HH-OCT is emerging as a powerful imaging tool to facilitate early diagnosis, identify prognostic biomarkers, monitor disease progression and assess response to treatment.

Cavitary Optic Disc Anomaly

Cavitary Optic Disc Anomaly

A case of anterior persistent hyperplastic primary vitreous associated with morning glory disc anomaly and retinopathy of prematurity like retinopathy in a term-born child

BackgroundAssociation of morning glory disc anomaly (MGDA) with persistent hyperplastic primary vitreous (PHPV) has been reported earlier. Retinopathy of prematurity (ROP) like retinopathy in preterm babies with optic disc anomalies has also been published. Our case is unique in terms of presence MGDA, PHPV, unilateral ROP like retinopathy in a term infant with normal birth weight.Case presentationA 5-month-old girl, born at term with a birth weight of 3750 g, presented with anterior PHPV, MGDA and ROP like retinopathy. In order to prevent retinal detachment, she received 360 degree barrage laser photocoagulation at the edge of the optic disc excavation of the left eye. In the follow-up a month later, laser scars were found in her left fundus without other complications.ConclusionPHPV and MGDA with ROP like retinopathy in term and normal weight baby is rare. The peripheral avascular retinal area, caused by the dragging of the defected optic disc, might have been more vulnerable to the oxygen change after birth which resulted in ROP like retinopathy. High sensitivity to oxygen results in a series of changes such as upregulation of VEGF and IGF-1 may cause ROP-like retinopathy.

Craniosynostosis Surgery for Increased Intracranial Pressure.

Craniosynostosis is the premature fusion of 1 or more cranial sutures. The presentation may vary, and there are differing opinions regarding surgical indications and timing. Though increased intracranial pressure (ICP) is a well-established risk of craniosynostosis, its response to treatment is not uniform. This study aims to identify the signs and symptoms indicative of increased ICP that are most likely to improve after craniosynostosis surgery. Pre- and post-operative data were retrospectively collected from patients at our institution with syndromic and non-syndromic craniosynostosis from January 2009 to June 2020. Demographics, symptoms (headache, nausea, emesis, and lethargy), signs (visual disturbances and papilledema), and imaging characteristics (copper beaten changes), if available, were analyzed. One hundred fifty-three children with craniosynostosis were identified, and 56 with preoperative symptoms met inclusion criteria. Older age was significantly correlated with the number of symptoms improved postoperatively ( P = 0.015). Papilledema, headache, nausea, and irritability (if present preoperatively) were the features most likely to improve after craniosynostosis repair. Optic nerve or disc anomalies, feeding difficulties, seizures, and need for glasses were least likely to improve. Older children undergoing craniosynostosis surgery had a greater number of improved symptoms. Classical features of increased ICP were more likely to improve than developmental difficulties and multifactorial causes. These findings may be useful when considering craniosynostosis repair in a symptomatic child.

Optical coherence tomography in the diagnosis of choroidal neovascularization in children

AIM: Report cases of choroidal neovascularization (CNV) in children and describe structural and hemodynamic changes in retina associated with this pathology detected by Optical Coherence Tomography (OCT) and OCT-angiography (OCTA).
 MATERIALS AND METHODS: 6 children (4 girls, 2 boys) aged from 7 to 17 years with CNV associated with pathological myopia, post-traumatic choroid rupture and optic disc abnormalities were examined. The activity of neovascular complexes was evaluated by ophthalmoscopy, OCT, and OCTA. The maximum follow-up period was 4 years.
 RESULTS: 7 cases of CNV were detected. One child had a two-way process. Myopic and posttraumatic membranes were localized sub- and juxtafoveally and were the membranes of type 2. In children with optic disc anomalies of the 1 type membrane and mixed (1st and 2nd) type was located extrafoveally. The decrease in visual acuity was determined by the localization of membranes, the severity of edema, and the severity of dystrophic changes in the retina. On OCT, subretinal fluid and hyperreflective material corresponding to hemorrhages were visualized in the projection of active membranes. OCTA revealed a network of small capillaries with a large number of loops and anastomoses. Intravitreal angiogenesis inhibitors injections were performed in 5 cases. A persistent effect after a single injection was observed in 2 cases. The return of membrane activity in 3 cases allowed us to justify the repeated administration of angiogenesis inhibitors. Along with a decrease in the activity of CNV, progressive dystrophic changes in the pigment epithelium around the membrane were detected.
 CONCLUSIONS: High sensitivity of OCT was demonstrated for early detection of structural and hemodynamic retinal disorders, determining the activity of neovascular complexes, predicting outcomes of the disease, and evaluating the effectiveness of therapeutic measures. The progression of dystrophic changes in the retinal pigment epithelium in response to therapy with angiogenesis inhibitors requires long-term monitoring of children and determining the optimal strategy for treating CNV in children.

Optic Disc Anomalies with Anomalous Disc Size

Optic disc anomalies are etiologically divided into two categories: congenital and acquired. Congenital optic disc anomalies are usually diagnosed with the appearance of the optic disc and anomalies in the retina surrounding it. As a general rule, these anomalies are classified according to optic disc size, conformation, and the presence of abnormal tissue in the optic nerve head. In our study, optic nerve anomalies with abnormal disc size (congenital tilted disc syndrome, optic nerve hypoplasia, segmental optic nerve hypoplasia, homonymous hemioptic hypoplasia, optic disc dysplasia, papillorenal syndrome, and megalopapilla) are discussed. Visual acuity decrease or loss is often seen in these anomalies, increasing the clinical importance of the diseases. In addition, since congenital optic disc anomalies with abnormal disc size may be a part of an isolated or systemic malformation; early diagnosis and treatment gain importance to improve visual acuity if possible, if not, to optimize, and to evaluate other accompanying ocular and systemic disorders. A multidisciplinary approach is required for the diagnosis and follow-up of neurological, endocrinological, and renal anomalies in children with optic nerve anomalies. When deemed necessary, the clinician should not hesitate to cooperate with the relevant departments or direct the patient to centers where a more inclusive health service can be obtained.

Clinical features of strabismus in patients with congenital optic disc anomaly.

PurposeTo investigate the clinical features of strabismus in patients with congenital optic disc anomaly and compare and analyze the characteristics of patients who showed changes in the strabismus pattern with those who did not.MethodsMedical records of the patients who were diagnosed with both strabismus and congenital optic disc anomaly and followed-up for ≥1 year were reviewed retrospectively. Clinical characteristics and ophthalmic features at the initial visit and final follow-up were assessed. Patients with a change in the direction of strabismus or a difference of >10 prism diopters in the deviation angle during the follow-up period were allocated to the changed group. The remaining patients were assigned to the unchanged group. The clinical characteristics of the two groups were compared.ResultsTwenty-eight patients (15 boys) were included (mean age, 39.0 months; range, 5–150 months). Three (10.7%) patients were born preterm and four (14.3%) had other underlying systemic disease. Sixteen (57.1%) patients had exotropia, and 12 (42.9%) had esotropia. Concurrent vertical strabismus was present in three (10.7%) patients. Strabismus features changed in 14 (50.0%, changed group) patients and remained unchanged in 14 (50.0%, unchanged group) patients. Age, sex, and laterality did not differ between groups. Preterm birth history (n = 3) and combined systemic disease (n = 4) were only observed in the changed group (p = 0.111 and p = 0.049, respectively).ConclusionsConsidering the possibility of changes in strabismic features, close monitoring of patients with strabismus combined with congenital disc anomaly is essential, particularly in those with preterm birth history or underlying systemic conditions.

Retinal Detachment associated with Optic Nerve Anomalies: Clinical Features, Pathogenesis, Management

Congenital anomalies of the optic nerve head are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause visual impairment. Retinal detachment commonly occurs in association with congenital anomalies of the optic disc, including morning glory disc anomaly, optic disc pit, optic disc coloboma, peripapillary staphyloma, and Aicardi syndrome. Notably, visual impairment and retinal detachment may not be the only problem in these patients, some of these entities will be related to neurologic and systemic features, which sometimes may be life-threatening. This review presents an overview of the clinical features of these optic disk anomalies and current therapeutic approaches for the treatment of retinal detachment associated with them.

Multimodal Imaging in a Case of Fovea Plana Associated with Situs Inversus of the Optic Disc

Fovea plana is a congenital condition characterized by anatomic absence of the foveal pit. It may be isolated or associated with congenital ocular anomalies. In this report, we present a case of fovea plana associated with situs inversus of the optic disc, optic disc hypoplasia, tilted optic disc, and prepapillary vascular loop and with best corrected visual acuity of 20/32. The aim of this report is to demonstrate the coexistence of very rare multiple optic disc anomalies and fovea plana, and also to emphasize that the use of multimodal imaging methods facilitates the identification of rare anomalies.