Optic disc hypoplasia OCT

Abstract PurposeTo determine the clinical usefulness of optical coherence tomography (OCT) for detecting thinning of the retinal nerve fiber layer (RNFL) in eyes with nasal hypoplasia of the optic discs (NHOD).Patients and methodsThe medical records of five patients (eight eyes) with NHOD were reviewed The appearance of the optic nerves supports optic nerve hypoplasia, most likely since birth. Both optic nerves are small (less than 1.484 mm2 OD) with normal mean disc area being 2.89 mm2. Additionally, the left optic nerve is severly hypoplastic with only a stump of nerve tissue with crowded retinal vessels exiting the nerve To determine the clinical usefulness of optical coherence tomography (OCT) for detecting thinning of the retinal nerve fiber layer (RNFL) in eyes with nasal hypoplasia of the optic discs (NHOD) Europe PMC is an archive of life sciences journal literature. Optical Coherence Tomography in Optic Nerve Hypoplasia: Correlation With Optic Disc Diameter, Nerve Fiber Layer Thickness, and Visual Function

Optic Nerve Hypoplasia (ONH) is the most commonly found optic nerve head anomaly.3It is a congenital, non-progressive, developmental anomaly characterized by the tetrad of: small optic disc, peripapillary double-ring sign, thinning of the nerve fibre layer and vascular tortuosity Topless disc syndrome refers to isolated superior segmental optic nerve hypoplasia, which is often associated with an inferior visual field defect. It is associated with diabetic mothers Optical coherence tomography (OCT) can aid in the differential diagnosis of optic nerve head (ONH) elevation

Optical coherence tomography detection of characteristic

  1. Optic Disc Hypoplasia Optic disc hypoplasia is the result of optic nerve underdevelopment during gestation. 19-21 The etiology is unclear, and environmental causes (maternal drug, alcohol and tobacco use), circumstances of pregnancy (viral infection, prematurity or first child) and gene expression all have been implicated. 2
  2. Optic nerve hypoplasia is a rare congenital disorder that may be an isolated finding or occur in association with another syndrome. There is an extremely wide range of severity: visual acuity in the affected eye (s) correlate to the severity of hypoplasia, falling anywhere between 20/15 to no light perception
  3. Optic pits are best seen clinically on dilated fundus evaluation and OCT imaging. They appear as grey, yellow or black excavations in the optic disc and are unilateral 95% of the time (figure 5). 5 In 85% of cases, the optic nerve with the pit is larger than the fellow optic nerve. 5 5
  4. Isolated nasal involvement and optical coherence tomography (OCT) nasal quadrant retinal nerve fiber layer (RNFL) thickness can both be used to distinguish nasal optic disc hypoplasia (NODH) from ocular conditions such as glaucoma, according to a research study presented at the North American Neuro-Ophthalmology Society (NANOS) 2021 Annual Meeting
  5. Optic nerve hypoplasia is a clinical diagnosis; visualization of the disc reveals an abnormally small optic nerve head, characteristically pale or grey in color

OCT studies of optic nerve hypoplasia have demonstrated significant thinning of the inner and outer retinal layers of the perifoveal region and thicker layers in the fovea itself, resulting in a foveal hypoplasia-like pathology, that is, significantly correlated to poorer visual outcomes Optic nerve hypoplasia, which is an abnormally small optic nerve head. Megalopapilla, which presents as an enlarged optic nerve head with an increased cup-to-disc ratio and a hori­zontally elongated cup. Morning glory syndrome, which appears as a funnel-shaped excavation, an enlarged optic nerve head, and an increased number of disc vessels This Optic Nerve Hypoplasia web portal has been generously supported by The Karl Kirchgessner Foundation.Optic Nerve Hypoplasia (ONH) is the under-development or absence of the optic nerve combined with possible brain and endocrine abnormalities. It is also known as Septo-Optic Dysplasia or DeMorsier's Syndrome.Now at epidemic proportions, ONH is the leading ocular cause o Optical coherence tomography demonstrated elevation of the borders of the right optic nerve with linear densities extending from the areas of maximal elevation of the nerve head into the vitreous cavity (Figure 2A).Optical coherence tomography of the left optic nerve showed relatively normal optic disc curvature with a small, curled prepapillary membrane and a preretinal membrane elevating the.

A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM; CORPUS CALLOSUM and the OPTIC NERVE. The extent of the abnormalities can vary Optic nerve hypoplasia (Fig. 8.45) is the most common congenital optic nerve anomaly. It is characterized by a small optic nerve (reduced diameter), sometimes with peripapillary halo (double ring sign), and may be unilateral or bilateral

Introduction. Optic nerve hypoplasia (ONH), the most common of congenital optic disc anomalies, is a non-progressive, underdevelopment of the optic nerve. 1,2 Whether unilateral or bilateral, defining characteristics of ONH include a small, often pale, disc accompanied by a peripapillary double-ring sign, thinning of the optic nerve fiber layer, and vascular tortuosity. 2 Studies have. Optic nerve hypoplasia (ONH) is a stationary and congenital anomaly characterized by a small optic nerve head with a yellowish peripapillary halo, the so-called double-ring sign 1, 2 Optic Nerve Hypoplasia, Bilateral. The hallmark of this syndrome is bilateral optic nerve dysplasia including aplasia and hypoplasia. It may occur in isolation or as part of other syndromes, especially in those having abnormalities of the central nervous system. All components of the nerve head are abnormally small including the entire disc. Abnormalities of Optic Nerve Size Optic Nerve Hypoplasia Optic nerve hypoplasia appears to be the result of excessive pruning of the optic nerve bundles during its development. The disc is pale and may be surrounded by a variably pigmented yellow-white ring. This appearance has been referred to as the double ring sign. While the nerv Eye and brain: The syndrome of optic nerve hypoplasia is known to be a miswiring of axons in the optic nerve often associated with miswiring elsewhere in the brain, especially the hypothalamus and midline structures. Early knowledge: Any child potentially demonstrating poor visual function, nystagmus, or strabismus should have a eye examination by 3 months of age

EyeRounds.org: Optic Nerve Hypoplasi

Decreased RNFL thickness seen in the setting of optic disc drusen is suggestive of partial optic atrophy and the presence of a visual field defect in children. 68 Furthermore, optic disc drusen may result in the development of peripapillary choroidal neovascularization that may be identified on OCT by the appearance of exudative change adjacent. optical coherence tomography; optic hypoplasia; Superior segmental optic hypoplasia (SSOH), also termed topless optic disc by Landau et al, is a developmental disorder characterised by relative superior entry of the central retinal artery, superior retinal nerve fibre deficiency, superior scleral halo, and superior disc pallor. 1 Patients with SSOH have good visual acuity and inferior.

imilar ophthalmoscopic appearance to the optic disc. Evidence Acquisition: This review is a combination of the authors' clinical experience from tertiary glaucoma and neuro-ophthalmology referral centers, combined with a literature review using PubMed. Results: Even for experienced observers, differentiation between glaucomatous and nonglaucomatous cupping can be difficult. In the majority of. Conclusions: OCT provides a new tool for quantitative evaluation of optic nerve hypoplasia as exem-plified in this study of SSOH. It can reveal minimal degrees of segmental hypoplasia previously unde-tected. Superior segmental optic hypoplasia (SSOH), also termed topless optic disc by Landau et al, is a developmenta

  1. A vertical OCT scan through the optic nerve head rotated 30 degrees nasal showed a defect of the supero-nasal portion of the optic disc with thinned RNFLin the both eyes, especially in the left eye and thinning of RNFLin the infero-temporal region as well as the supero-nasal region in the both eyes, especially in the right eye (Figure 2).For quantitative assessment of RNFL, a circular OCT scan.
  2. Utilizing Optical Coherence Tomography in Diagnosing a Unique Presentation of Chiasmal Hypoplasia Variant of Septo-Optic Dysplasia Obituary: Melvin G. Alper, MD (1921 - 2013) The 6th Congress of the Korean Society of Neuro-Ophthalmology, Seoul, Kore
  3. Optic disc hypoplasia has been reported previously in one individual with autosomal recessive microcephaly due to TUBGCP4 mutations. 22 Similarly, 4 patients in the present study were funduscopically diagnosed with optic disc hypoplasia confirmed by HH-OCT. Quantitative ONH analysis on HH-OCT also showed that patients with microcephaly had.
  4. Purpose . To evaluate the different characteristics in superior segmental optic hypoplasia (SSOH) and normal tension glaucoma (NTG) with superior retinal nerve fiber layer (RNFL) defect (NTG-SRD) compared to normal control using cirrus optical coherence tomography (OCT). Methods . SSOH eyes and NTG-SRD eyes were reviewed. The peripapillary RNFL (pRNFL) and ganglion cell inner plexiform layer.
  5. A person with Optic Nerve Hypoplasia (ONH)has small eye nerves (optic nerves) from the eye to the brain. Some people with ONH also have an abnormal brain and a poorly functioning pituitary gland. This brochure explains the problems that can occur in children with ONH. Your child may have none, any or all of these problems in a mild or more.
  6. Optic nerve hypoplasia can be associated with central nervous system (CNS) malformations which put the patient at risk for other problems, including seizure disorder and developmental delay. Hormone deficiencies occur in most children, regardless of associated midline brain abnormalities or pituitary gland abnormalities on MRI

Superior segmental optic hypoplasia (SSOH) is a congenital anomaly affecting the optic nerve head and retina. Although the conventional characterization of SSOH emphasizes the relatively superior entrance of the central retinal artery, the pallor of the superior optic disc, a superior peripapillary halo, and thinning of the superior nerve fiber layer, we encounter many cases with rim thinning. CONGENITAL ANOMALIES. Disc size — The optic nerve head may be absent (aplasia), small (hypoplasia), or large (megalopapilla). Aplasia — Optic nerve aplasia is an extremely rare, nonhereditary occurrence of unknown etiology. It is characterized by complete lack of the optic nerve, disc, retinal nerve fiber layer, ganglion cells, and retinal. Fundus examination suggested superior segmental optic nerve hypoplasia (SSONH), a congenital optic nerve disorder . Optical coherence tomography (OCT) of the optic nerve, which measures nerve fiber layer thickness using interferometric techniques, 1 showed decreased thick-ness of the superior segment of both nerves Superior segmental optic hypoplasia (SSOH) is a congenital anomaly of the optic nerve head with a relative hypoplasia of the superior part of the optic nerve head and the retinal nerve fiber layer. It is characterized by 4 findings: pallor of the superior optic disc, thinning of the superior retinal nerve fiber layer (RNFL) corresponding to the.

Congenital anomalies of the optic nerv

The optic disc hypoplasia may be subtle, and measurements using optical coherence tomography have confirmed the thinning of the superior parapapillary retinal nerve fiber layer in patients in whom the anomaly has been previously undetected (Unoki, Ohba, & Hoyt, 2002) Optic nerve hypoplasia is the unifying feature of a spectrum condition, commonly known as septo-optic dysplasia (SOD) or DeMorsier syndrome, which includes hypopituitarism and absence of the septum pellucidum on MRI scan. The terms SOD and DeMorsier syndrome have fallen into disfavor because of recognition that absence of the septum pellucidum. The optic nerve (optic disc, optic disk, optic nerve head [ONH]) area is approximately 2.1-2.8 mm 2 in whites who are not highly myopic depending on the measurement method utilized. The optic nerve size changes in early life and is likely stable after age 10 Congenital nasal optic disc hypoplasia (NOH) is a specific optic disc finding that includes a small disc size and an indented nasal disc margin in the nasal peripapillary retina [] (Fig. 1a).Congenital defects of the retinal ganglion cells and optic nerve axons are clinically characterized by non-progressive visual loss and visual field defects [1,2,3] (Fig. 1b)

Uploaded on Oct 13, 2012. Last modified by Hamid Ahmadieh, MD on Oct 13, 2012. Rating Appears in Miscellaneous Condition/keywords familial exudative vitreoretinopathy (FEVR), optic disc hypoplasia Photographer Hamid Ahmadieh, MD, Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Science Purpose. To evaluate whether Heidelberg Retinal Tomograph (HRT) is a valid test for diagnosing congenital optic nerve hypoplasia (CONH) compared to the ratio of the distance between the centre of the optic disc and the centre of the macula and the mean optic disc diameter (DM:DD ratio)

In cases of ONHD, 10% will have some type of vasculature anomaly. 9,10 ONHD is associated with peripapillary retinal pigment epithelial changes (33%) and an absent to very small cup-to-disc ratio. 2,9 Drusen of the optic nerve head have no histopathologic relationship to retinal drusen and are not considered age-related Congenital anomalies of the optic disc: insights from optical coherence tomography imaging Jeng-Miller KW, Cestari DM, Gaier ED. Curr Opin Ophthalmol. 2017 Aug 16. doi: 10.1097/ICU.0000000000000425 Optic nerve hypoplasia is simply defined as a congenital condition in which optic nerves have not fully developed, resulting in vision loss. Micropapilla is a congenital anomaly in which the optic nerve disc is smaller in diameter than normal The Optic Disc Drusen Studies Consortium Recommendations for Diagnosis of Optic Disc Drusen Using Optical Coherence Tomography. Journal of Neuro-Ophthalmology 2018:38;299-307 Borchert M, McCulloch D, Rotha C and Stout A. Clinical Assessment, Optic Disk Measurements and Visual-Evoked Potential in Optic Nerve Hypoplasia Optic Disc Hypoplasia Associated with Septo-Optic Dysplasia Comment to photo: Coronal MRI scan demonstrates absence of the septum pellucidum; ventricular asymmetry; and contact between the gray matter and the surface of the ventricle

Congenital Optic Disc Anomalies — Ophthalmology Revie

  1. Aim: To describe optical coherence tomography (OCT) images of superior segmental optic hypoplasia (SSOH). Methods: Five patients (two men and three women, ages 10-45 years) presented with ophthalmoscopic features and visual field defects of SSOH. All affected eyes had good visual acuity and inferior altitudinal or inferonasal visual field loss
  2. Coloboma of the optic nerve is a congenital eye abnormality in which the optic nerve (which carries images of what the eye sees to the brain) is incompletely formed. The condition may occur in one or both eyes. The degree of visual impairment varies widely depending on the severity and structures involved
  3. ation are equivocal (102). Interestingly, Pilat and colleagues also found that, in cases of apparently unilateral optic nerve hypoplasia, the average optic disc diameter,.
  4. shows a non-progressive hypoplasia of the superior optic disc tissue and superior RNFL thinning on OCT, with corresponding inferior visual field loss. Distinctive features of the optic nerve and OCT help differentiate it from glaucoma. Follow-up for these patients is recommended to ensure that there is no progressive visual field loss t
  5. Optic nerve hypoplasia is a condition involving the underdevelopment of the optic nerves that commonly occurs as a result of congenital optic nerve anomaly. In optic nerve hypoplasia, the optic nerve axons have not developed properly leading to an abnormally small optic disc. The optic nerve is responsible for transmitting the signals of vision.

Coloboma of Optic Disc, and Choroid Coloboma of Optic Disc, Isolated Decreased Retinal Nerve Fiber Thickness in Optic Disc Drusen (Colour Photography, SD-OCT, VEP, Visual Field, Ocular Ultrasonography A variety of congenital optic disc abnormalities may mimic the appearance of glaucoma, including tilted optic discs, an optic nerve pit, and optic nerve hypoplasia. The absence of other findings to support a diagnosis of glaucoma—and the static nature of congenital optic nerve anomalies—will usually allow differentiation from a glaucomatous. Ocular manifestations including refractive errors, size, and appearances of the optic discs, retinal nerve fiber thickness (NFLT) ascertained by optical coherence tomography (OCT), and VFD were examined.Results: Ophthalmic examinations revealing NOH showed high myopia at more than -5.0D, a small disc with nasal double-ring appearance. The latter is a ring 0.4 mm wide centered around the optic disc with the outer diameter being 3.2 mm and the inner 2.4 mm. The shaded areas (green for the right eye and purple for the left) represent the 95% of the normal values for this age group. The TSNIT contour line has a double hump appearance as for the OCT Optic atrophy refers to the death of the retinal ganglion cell axons that comprise the optic nerve with the resulting picture of a pale optic nerve on fundoscopy. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Since the optic nerve transmits retinal information to the brain, optic atrophy is.

The Use of OCT in Differential Diagnosis of Elevated Optic

Abstract. PurposeTo investigate the optic nerve and macular morphology in patients with optic nerve hypoplasia (ONH) using spectral-domain optical coherence tomography (SD OCT).DesignProspective, cross-sectional, observational study.SubjectsA total of 16 participants with ONH (10 female and 6 male; mean age, 17.2 years; 6 bilateral involvement) and 32 gender-, age-, ethnicity-, and refraction. Optic nerve drusen are abnormal collections of protein and calcium that accumulate within the optic nerve. Drusen are often present in both eyes (bilateral), but sometimes occur in only one eye (unilateral). The pictures below illustrate the appearance of the optic nerve as seen by your ophthalmologist. The optic nerve is the round, yellow/pink.

All Eyes Aren't Created Equal - Review of Optometr

Optic disc pits are usually unilateral and sporadic in occurrence Optic Nerve Hypoplasia is the under-development of the optic (OCT) shows a mild degree of foveal hypoplasia with associated thinning of the retinal ganglion cell and nerve fiber layer Symptoms Foveal hypoplasia is a retinal disorder in which there is a lack of full development of the morphology of the fovea. The optical coherence tomography (OCT) and functional findings are presented in relation to the underlying genetic and developmental conditions Optical coherence tomography (OCT) can aid in the differential diagnosis of optic nerve head (ONH) elevation. Specific OCT hallmarks, such as V contour and a lumpy-bumpy appearance, associated with optic disc edema and optic nerve head drusen, respectively, were investigated in isolation from line scans added to photographs of. Optic disc hypoplasia The left disc is smaller compared with the right (in some cases there is peripapillary atrophy, if there is pigmentary changes in the inner and outer rings the disc gives a double ring sign). The blood vessels may enter the optic disc at an angle (giving an appearance of tilted disc)..

Unilateral Optic Nerve Hypoplasia in a patient desiring

a fixed distance above the disc. • In this method, the disc and rim area measurements correspond to the anatomy in the same plane as the optic disc. Optic Nerve Head Calculations Carl Zeiss Meditec 03/2010 CIR.2804 27 Comprehensive ONH and RNFL Analysis RNFL and Neuroretinal Rim Display F : An example of an eye with superior segmental optic hypoplasia (SSOH) in -year-old female patient. (a, b) Color fundus photograph and red-free retinal nerve ber layer (RNFL) photograph of the le eye show optic disc rim thinning and RNFL defect i • In a review of 10 patients with superior segmental optic nerve hypoplasia, all of whom were the children of diabetic mothers, 17 of 20 eyes had one or more of four characteristic findings in the optic disc: relative superior entrance of the central retinal artery, pallor of the superior disc, superior peripapillary halo, and thinning of the superior peripapillary nerve fiber layer Restoring Optic Nerve Function Using Stem Cells. Optic nerve hypoplasia (ONH) occurs from the underdevelopment of the optic nerve, which carries neuronal transmission from the retina in the eye to the brain.Septo-optic dysplasia (SOD) - also known as de Morsier syndrome - is a subtype of ONH and results from underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of. A C/D ratio between 0.4 and 0.8 can characterize a patient with a normal optic disc (i.e., physiologic cupping), a glaucoma suspect or someone with early to moderate glaucoma (depending on the optic disc size); If the C/D ratio is 0.8 or greater, consider the individual's disc as glaucomatous unless proven otherwise

A Detailed Look at Optic Nerve Anomalie

The appearance of the optic disc in our patient was different from the typical double-ring atrophy seen in severe optic nerve hypoplasia. However, the disc may exhibit pallor, as in our patient optic dysplasia (SOD) and de Morsier syndrome. HISTORICAL PERSPECTIVE The first description of ONH is ascribed to Briere in 1877 (1), but the first artistic rendering of the optic disc appear-ance was by Schwarz in 1915 (2) (Fig. 1). The first recog-nition of an association of ONH with agenesis of th The Stratus OCT measured retinal nerve fiber layer (RNFL) thickness via a 3.5-mm-diameter circle centered on the optic disc and used radial scans to provide measurements of the optic nerve head (ONH) such as disc, cup, and rim area

OCT Can Help Distinguish Nasal Optic Disc Hypoplasia From

Optic nerve hypoplasia is the most common congenital anomaly of the optic disc (Birkebaek et al., 2003).It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary Uploaded on Oct 13, 2012. Last modified by Hamid Ahmadieh, MD on Sep 25, 2013. Rating 1 rating Appears in Miscellaneous Condition/keywords familial exudative vitreoretinopathy (FEVR), optic disc hypoplasia Photographe The optic nerve is an assortment of more than a million nerve fibers that convey visual signals from the eye to the brain. The optic nerve develops the first trimester of intrauterine life. What is optic nerve hypoplasia? Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small)

Optic nerve hypoplasia (ONH) is a congenital ocular malformation with a thin optic nerve in Optical coherence tomography Optic nerve hypoplasia Orthodenticle homeobox 2 The first reported patient with ONH was a child with a small and pale optic disc, nystagmus People suffering from optic nerve hypoplasia are generally born with the disease. It causes various degrees of visual impairment such as esotropia and blindness. Other conditions can arise including problems with the pituitary gland that result in a lack of growth hormones and sexual development. The condition, also known as septooptic dysplasia or DeMorsier syndrome, has no treatment 3. Number of Disc Diameters to the Fovea. In normal eyes, the distance between the disc and center of the fovea is approximately 2 to 3 disc diameters, as measured from the temporal edge of the disc to the center of the fovea. Taken together with our knowledge about average optic disc size (i.e., 1.77 mm horizontally and 1.88 mm vertically), we. Optical Coherence Tomography (OCT) Visual Field Examinations; Electrodiagnostic Evaluation (ERG, VEP) The optic nerve head—which may also be referred to as the optic disc or, more rarely, the papilla—is approximately 1mm in length and 1.5mm in diameter. (Optic Nerve Hypoplasia): Optic nerve hypoplasia (or ONH) is a congenital. OCT showed retinoschisis around the optic disc hypoplasia, glaucoma and tilted disc, but no optic disc, a thin sheet of fenestrated tissue on the optic optic disc pit [2-6]. In cases of optic disc hypoplasia, disc and absence of serous retinal detachment

Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes, typically de novo mutations PubMed is a searchable database of medical literature and lists journal articles that discuss Optic nerve hypoplasia, familial bilateral. Click on the link to view a sample search on this topic. Click on the link to view a sample search on this topic NEURO-OPHTHALMIC In the evaluation of ONH Optic disc edema Optic neuritis Optic atrophy 35. OCT image display, Highest reflectivity - red nerve fiber layer retinal pigment epithelium and choriocapillaris Minimal reflectivity appear blue or black photoreceptor layer choroid vitreous fluid or blood 36 In optic nerve hypoplasia the disc will be shrunken compared to normal, and retinal venules will seem comparatively large. The canine hypoplastic optic disc is small, unmyelinated, and resembles that of a feline. Conversely, the disc will look larger than normal if it is swollen (optic neuritis) or the venules are attenuated (progressive.

High-Resolution Imaging of the Optic Nerve and Retina in

Optic atrophy is the final common morphologic endpoint of any disease process that causes axon degeneration in the retinogeniculate pathway. Clinically, optic atrophy manifests as changes in the color and the structure of the optic disc associated with variable degrees of visual dysfunction Optical coherence tomography (OCT). This test measures the thickness of the eye's retinal nerve fiber layer, which is often thinner from optic neuritis. Visual field test. This test measures the peripheral vision of each eye to determine if there is any vision loss. Optic neuritis can cause any pattern of visual field loss. Visual evoked response Background/Aims . Optic disc drusen (ODD) are calcified deposits of proteinaceous material in the optic disc, and their burden in ocular conditions is unknown. As ODD can be associated with visual field defects further compromising already degenerating visual function in patients with retinal degenerations, it is important to further our knowledge of ODD in inherited eye disease

Optic nerve hypoplasia affecting nasal part of disc withFigure 2 OCT of the optic nerve and maculaMedical Videos ppt and Lecture Notes: Optic Nerve HypoplasiaMegalopapilla Simulating Pediatric Optic AtrophyExaminations of the optic nerve head | SPECTRALISTilted Disc Syndrome - EyeWikiOptic nerve coloboma with peripapillary choroidalThe Swollen Optic Disc: Is this an Emergency?

3. SLC38A8. 615585. TEXT. A number sign (#) is used with this entry because of evidence that foveal hypoplasia-2 with or without optic nerve misrouting and/or anterior segment dysgenesis (FVH2) is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene (615585) on chromosome 16q23. Description Optic nerve hypoplasia is characterized by a small disc and peripapillary double ring sign, and the inner ring is actually the optic disc margin. Scleral crescent areas are devoid of retinal pigment epithelium. Optic disc drusen; Fundus viewing through an intraocular lens implan 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. Optic disc pits are usually unilateral and sporadic in occurrence, and the development of maculopathy is unpredictable with no known triggers. Optic disc pit maculopathy (ODP-M) is characterized by intraretinal and subretinal fluid at the. The optic nerve, also known as the second cranial nerve, is composed of axons that transmit visual information from the neurosensory retina to the visual cortex. There are multiple pathologies that can affect the human optic nerve. Congenital anomalies of the optic nerve include myelinated nerve fibers, morning glory syndrome, optic nerve choristoma, optic nerve coloboma, optic nerve. Scans can detect small nerve fiber layer changes of the optic nerve at the micron level. Viewing the optic nerve through lenses and a slit lamp is the best way for your doctor to assess the optic nerve for glaucoma. Your doctor may document this assessment either with drawings or with optic disc photos An 18-year-old man presented with decreased vision in the right eye (OD) noticed for 1 month. On examination, OD best-corrected visual acuity was 3/60 and the left eye (OS) was 6/6 with intraocular pressure of 12 mm Hg in both the eyes (OU). OD fundus revealed an inferior optic-disc-pit with macular-retinoschisis and an inferior choroidal coloboma