Optic disc pit combining with an optic nerve cyst a case. All subjects underwent a complete ophthalmic examination that included intraocular pressure and central corneal thickness measurements and standard automated perimetry using the swedish interactive threshold algorithm and the 242 program humphrey field analyzer. Clinicopathological atlas of congenital fundus disorders is a concise yet comprehensive text encompassing the salient features of congenital anomalies of the vitreous, retina and choroid with their appropriate pathology. Optic disc cups are indicated as reddish voxel columns in sd. Feb 27, 2016 optic disc anomalies small optic disc hypermetropia aphakia tilted optic disc optic disc hypoplasia large optic disc high myopia congenital optic disc pit optic disc coloboma morning glory anomaly megalopapilla 12. Two additional disc anomalies that are associated with basal encephalocele are megalopapilla and optic nerve dysplasia.
The code is valid for the year 2020 for the submission of hipaacovered transactions. As a general rule, these anomalies are classified according to abnormalities of optic disk size aplasia, hypoplasiz, megalopapilla or conformation titled discs, morning glory disc, optic disc coloboma, optic pit, peripapillary staphyloma and by the presence of. First described by wiethe50 in 1882, optic pit op is an excavation. An optic pit is a round or oval, gray, white, or yellowish depres sion in the optic. Jan 15, 2020 congenital anomalies of the optic disc may occur in isolation or as part of a larger systemic syndrome. Congenital pits are typically temporal and round in shape. Evaluation of congenital optic disc pits and optic disc colobomas. Pit of optic nerve head with focal loss of retinal nerve layer colour photography posterior pole, oct triton, visual field. Key feature small, pale, or unusually shaped optic discs may reflect mere curiosities or significant anomalies associated with visual defects. Morning glory syndrome, optic disc coloboma, peripapillary staphylomas, megalopapilla, optic disc pit, tilted disc syndrome and pseudopapilla. Developmental abnormalities of the optic nerve and chiasm. For this reason, we have chosen to use a broader term, congenital cavitary optic disc anomaly, 11 to describe the optic nerve appearance because it encompasses features that resemble optic pit, optic nerve coloboma, megalopapilla, vacant disc, and morning glory disc anomaly. The relative prominence of one pole give the appearance of rim thinning and raise the.
Optic disc pits are usually unilateral and sporadic in occurrence, and the development of maculopathy is unpredictable with no known triggers. Confocal tomography was performed to the following optic nerve head congenital anomalies. Discussion of a case series of optic nerve anomalies with topics including optic nerve hypoplasia, optic pit, morning glory, megalopapilla, myelinated nerve fibers and. Optic disc anomalies such as pallor, dysplasia, optic pit, coloboma, and megalopapilla have been reported to occur in patients with basal encephalocele we report a case of a child with a sphenoethmoidal encephalocele and morning glory syndrome of the optic nerve. Handbook of pediatric retinal oct and the eyebrain connection provides authoritative, uptodate guidance in this promising area, showing how to optimize imaging in young. Optic disc pit odp is a rare congenital anomaly of the optic disc, which can be complicated by a maculopathy associated with progressive visual loss.
Employers have the responsibility of ensuring a safe workplace for their employees. This chapter traces the normal development of the optic nerve throughout gestation before discussing aplasia of the optic nerve, a rare condition in which the optic nerve fails to develop, and optic nerve hypoplasia onh, a congenital, nonprogressive developmental abnormality characterized by reduced numbers of retinal ganglion cells and corresponding defects in the nerve fiber layer of the. Congential optic nerve anomalies mbbs notes edurev. Note circular depression in the superior half of the optic cup. Other congenital disc malformations are often accompanied by field defects that may be mistaken for an acquired disease. Megalopapilla with pseudoglaucomatous macroexcavation. Unilateral megalopapilla and contralateral optic nerve hypoplasia.
With systemic associations optic disc coloboma a free powerpoint ppt presentation displayed as a flash slide show on id. To evaluate the optic disc and retinal nerve fiber layer rnfl thickness in megalopapilla cases by confocal scanning laser ophthalmoscopy and stratus optical coherence tomography oct. Megalopapilla, which presents as an enlarged optic nerve head with an increased cuptodisc ratio and a horizontally elongated cup. Of concern in patients who present with congenital optic disc abnormalities such as hypoplasia, coloboma, peripapillary staphyloma, the morning glory optic disc, optic disc pit and megalopapilla is the. Optic disc deterioration or a glaucomatous visual field defect typically indicate the presence of glaucoma or the conversion to glaucomabut you must consider many other factors before you reach a management decision. Congenital anomalies of the optic nerve oxford medicine.
May 24, 2015 page 1 congenital optic nerve anomalies 1. Patients with onh should be assessed for systemic associations such as neurologic. The ratio between the cup and disc diameters is important to note because acquired optic nerve damage can cause cupping, an increase in the cupdisc ratio. Without systemic associations tilted optic disc optic disc drusen optic disc pit myelinated nerve fibres 2. Typically, congenital pits do not cause visual loss unless associated with a serous macular detachment. Chapter 188 congenital optic disc anomalies michael c. Dec 16, 2009 megalopapilla, an abnormally large optic disc, is exceedingly rare. It is important that you understand the principles of safe gun handling in general and the unique features of. Optic disc pit and optic nerve coloboma are examples of congenital. Diagnosis and management of optic disc pits american. Optic pits are important because they are associated with posterior vitreous detachments pvd and even serous retinal detachments. Congenital anomalies and acquired abnormalities of the.
Congenital optic nerve head anomalies are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause congenital visual impairment and blindness. Healthcare workers specifically risk injuries, needle sticks, bloodborne pathogens, and airborne diseases but regulations are in place to afford them the proper personal protection. Excavated and colobomatous defects of the optic nerve head encompass a spectrum of abnormalities, including tilted discs, peripapillary staphyloma, morningglory disc anomaly, colobomas, and congenital optic disc pits. Megalopapilla is a congenitally anomalous optic disc area 2. Discussion of a case series of optic nerve anomalies with topics including optic nerve hypoplasia, optic pit, morning glory, megalopapilla, myelinated nerve fibers and disc drusen. Congenital optic nerve anomalies often lead to significant visual impairment. Disk photo of apon visual field of od from an ntg patient visual field of acquired optic pit dense inferior nasal step and paracentral scotoma which corresponds to location of superior apon in the optic nerve. N2 over the past decade, a wealth of information has accumulated pertaining to the diagnosis and management of patients with congenital optic disk anomalies. Aphakia tilted optic disc optic disc hypoplasia large optic disc high myopia congenital optic disc pit optic disc coloboma morning glory anomaly megalopapilla 12. Excavated optic disc anomalies include megalopapilla, peripapillary staphyloma, optic. Megalopapilla is a rare anomaly of the optic disc, involving thinning of the nerve fiber across a large optic nerve head, and is often associated with large refractive errors and with midline congenital deformities. Case history patient hf was a pleasant 9yearold african american female that presented.
Variation includes coloboma, hypoplasia, aplasia, morning glory syn drome, tilted disc, optic disc pit and megalopapilla apple et al. With systemic associations optic disc coloboma morning glory anomaly optic nerve hypoplasia aicardi syndrome megalopapilla peripapillary staphyloma optic disc dysplasia tilted optic disc optic disc drusen optic disc pit myelinated nerve fibres page 2 congenital optic nerve. To show the topographic features and specific measurements of the different optic nerve head congenital anomalies. Because there was no evidence of fluid leakage, choroidal neovascularization or an optic pit, direct intervention was unnessessary. These malformations include optic nerve hypoplasia, optic pit, coloboma, morning glory disc anomaly mgda, tilted disc, peripapillary staphyloma, megalopapilla and optic nerve drusen. Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. A mass in the nose or nasopharynx under these circumstances is most. Brodsky definition unusual configurations of the optic discs typically present since birth. Optic disc anomalies such as pallor, dysplasia, optic pit, coloboma, and megalopapilla have been reported to occur in. Optic disc anomalies such as pallor, dysplasia, optic pit, coloboma, and megalopapilla have been reported to occur in patients with basal encephalocele caprioli and lesser report a case of a child with a sphenoethmoidal encephalocele and morning glory syndrome of the optic nerve. Optic disc pit as evaluated with enface optical coherence.
Variation includes coloboma, hypoplasia, aplasia, morning glory syndrome, tilted disc, optic disc pit and megalopapilla apple et al. Optic disc anomalies, pits, and associated serous macular. The photographs depicted here represent, to our knowledge, the first. Optic disk anomaly an overview sciencedirect topics. Optic nerve disease in children chicago university of illinois at. Khaderi optic disc pits are congenital excavations of the optic nerve head, usually seen in association with other abnormalities of the optic nerve and peripapillary retina, including large optic nerve head size, large inferior colobomas of the optic disc. In essence, these megalopapilla nerves, have been considered unlikely to have glaucomatous. Morning glory syndrome, which appears as a funnelshaped excavation, an enlarged optic nerve head, and an increased number of disc vessels. Megalopapilla, which presents as an enlarged optic nerve head with an. Developmental anomalies of the optic nerve are an important and growing cause of lifelong visual handicap and they are often associated with systemic abnormalities. Optic disc appearance with conventional optic disc photography and spectral domain optical coherence tomography sd.
Graefes archive for clinical and experimental ophthalmology 249. Approximately twothirds of patients with congenital optic disc pits have or have had a serous retinal detachment of the macula. Although cases of bilateral odps have been reported, odps typically present unilaterally. Optic disc pit maculopathy odpm is characterized by intraretinal and subretinal fluid. Optical coherence tomography oct plays a vital role in pediatric retina diagnosis, often revealing unrecognized retinal disorders and connections to brain injury, disease, and delayed neurodevelopment. Congenital optic nerve anomalies are distinguished by the appearance of the optic disc and surrounding retina. Megalopapilla group presented larger optic disc diameter, disc and. A case of an optic pit abstract academy of optometry. Congenital optic nerve head anomalies are a group of structural. Upon examination, the best corrected visual acuity in the right eye was 2020 and in the left eye. Right congenital optic disc anomaly eye condition right congenital optic disc coloboma eye condition present on admission.
Optic disc pit as evaluated with enface optical coherence tomography. Optic disk pit maculopathy is characterized by intraretinal and subretinal fluid at the macula, causing visual deterioration. Handbook of pediatric retinal oct and the eyebrain. Optic nerve hypoplasia, which is an abnormally small optic nerve head. Acquired pit of the optic nerve acquired pit of the optic nerve. Those previously described are palediscs, coloboma of the opticnerve head, and pitof the opticdisc. Optic nerve anomalies may occur with basal encephalocele. Unilateral megalopapilla and contralateral optic nerve.
Progressive optic nerve cupping and neural rim decrease in a patient with bilateral autosomal dominant optic nerve colobomas. Optic disk pit, one of the optic disk cavitary anomalies, is generally congenital and unilateral and occurs equally in males and females. Optic nerve hypoplasia onh is the most commonly found optic nerve head anomaly. Two additional disc anomalies that are associated with basal encephalocele are megalopapilla. Congenital anomalies of the optic disc may occur in isolation or as part of a larger systemic syndrome. Optic nerve abnormalities can be categorized as congenital or acquired. Developmental anomalies of the optic nerve are an important and growing cause of lifelong visual handicap and they are often associated with. To evaluate the optic disc and retinal nerve fiber layer rnfl thickness in megalopapilla cases by confocal scanning laser. Type 1 is bilateral with a normal configuration, pale surface, high cupdisc ratio, and a round or horizontal oval cup. Congenital and acquired anomalies of the optic nerve head. Their prevalence is rising with an increasing ability to diagnose and classify each specific malformation. Recently, it has been reported that acquired optic pits are commonly found in eyes with pathological myopia. With rare exceptions, 1 megalopapilla is considered to be a benign idiopathic enlargement of the optic disc that does not portend neurologic or systemic maldevelopment.
C l i n i c a l a n d e x p e r i m e n t a l megalopapilla. Optic disc and retinal nerve fiber layer thickness. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease. First described in the late 19th century by wiethe, optic disc pits odps are anomalous cavitations of the optic nerve. Hyperplastic primary vitreous pigmented vitreous cyst optic nerve optic atrophy ocular coloboma drusen of the optic nerve optic nerve hypoplasia and megalopapilla morning glory disc anomaly congenital optic pit tilted disc prepapillary vascular loop pigment epithelium bests disease combined hamartoma of the. The optic disc is abnormally large, as is the optic cup compare the vessel width to the size of the disc. Congenital cavitary optic disc anomaly and axenfelds anomaly. Special attention should be given to its differentiation from pseudoglaucomatous diseases. Currently, an enlarged macro optic disc, often defined as megalopapilla syndrome, is viewed as a large optic nerve appearing abnormal, with increased cupping, but associated with a normal rim volume, normal visual field and normal iop. We are sincerely thankful to shri vivek kumar directortelerdso, shri ravi. Congenital optic nerve pits are a rare ocular anomaly that have been described in past literature as focal colobomas of the optic nerve. Developmental abnormalities of the optic nerve and chiasm eye. Oct image in a child with megalopapilla a, c and normal control b, d. However, unlike optic disc coloboma, the degree of disc excavation is not appreciably greater over the inferior aspect of the disc.
An additional optic disc anomalycalled the morningglory syndromehad been described byseveral authors, but to ourknowledge had never been reported in association with basal encephalocele. Poa help present on admission is defined as present at the time the order for inpatient admission occurs conditions that develop during an outpatient. Optic pit, optic nerve pit, or optic disc pit is a congenital excavation or regional depression of the optic disc also optic nerve head, resulting from a malformation during development of the eye. Chapter 93 optic disc anomalies, pits, and associated serous macular detachment alfredo a. Those previously described are pale discs, coloboma of the optic nerve head, and pit of the optic disc. A case of an optic pit abstract optic pits can be congenital or acquired in nature.
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