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Optic pit, optic nerve pit, or optic disc pit (ODP) is rare a congenital excavation (or regional depression) of the
optic disc The optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye. Because there are no rods or cones overlying the optic disc, it corresponds to a small blind spot in each eye. The ganglion cell axons form t ...
(also optic nerve head), resulting from a
malformation A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth de ...
during development of the eye. The incidence of ODP is 1 in 10,000 people with no predilection for either gender. There is currently no known risk factors for their development. Optic pits are important because they are associated with posterior vitreous detachments (PVD) and even serous retinal detachments.


Signs and symptoms

Many times, an optic pit is
asymptomatic Asymptomatic (or clinically silent) is an adjective categorising the medical conditions (i.e., injuries or diseases) that patients carry but without experiencing their symptoms, despite an explicit diagnosis (e.g., a positive medical test). P ...
and is just an incidental finding on examination of the eye by a physician. However, some patients may present with the symptoms of a
posterior vitreous detachment A posterior vitreous detachment (PVD) is a condition of the eye in which the vitreous membrane separates from the retina. It refers to the separation of the posterior hyaloid membrane from the retina anywhere posterior to the vitreous base (a 3� ...
or serous
retinal detachment Retinal detachment is a condition where the retina pulls away from the tissue underneath it. It may start in a small area, but without quick treatment, it can spread across the entire retina, leading to serious vision loss and possibly blindness. ...
. This is because optic pits are associated with these disorders and are even speculated to be the actual cause of these disorders when they arise in patients with optic pits (see "Associated Retinal Changes" below for a more in-depth discussion on this theory). The most common
visual field The visual field is "that portion of space in which objects are visible at the same moment during steady fixation of the gaze in one direction"; in ophthalmology and neurology the emphasis is mostly on the structure inside the visual field and it i ...
defects include an enlarged blind spot and a
scotoma A scotoma is an area of partial alteration in the field of vision consisting of a partially diminished or entirely degenerated visual acuity that is surrounded by a field of normal – or relatively well-preserved – vision. Every normal mamm ...
.
Visual acuity Visual acuity (VA) commonly refers to the clarity of visual perception, vision, but technically rates an animal's ability to recognize small details with precision. Visual acuity depends on optical and neural factors. Optical factors of the eye ...
is typically not affected by the pit but may get worse if serous detachment of the
macula The macula (/ˈmakjʊlə/) or macula lutea is an oval-shaped pigmented area in the center of the retina of the human eye and in other animals. The macula in humans has a diameter of around and is subdivided into the umbo, foveola, foveal avas ...
occurs.
Metamorphopsia Metamorphopsia (from , ) is a type of distorted vision in which a grid of straight lines appears wavy or partially blank. In addition, metamorphopsia can result in misperceptions of an object's size, shape, or distance to the viewer. People can f ...
(distorted vision) may then result. Optic pits were first described in 1882 as dark gray depressions in the optic disc. They may, however, appear white or yellowish instead. They can also range greatly in size (e.g. some can be minuscule while others may be large enough as to occupy most of
optic disc The optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye. Because there are no rods or cones overlying the optic disc, it corresponds to a small blind spot in each eye. The ganglion cell axons form t ...
surface). Optic pits are associated with other abnormalities of the
optic nerve In neuroanatomy, the optic nerve, also known as the second cranial nerve, cranial nerve II, or simply CN II, is a paired cranial nerve that transmits visual system, visual information from the retina to the brain. In humans, the optic nerve i ...
including large optic nerve size, large inferior
colobomas A coloboma (from the Greek , meaning "defect") is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is pres ...
of the optic disc, and colobomas of the
retina The retina (; or retinas) is the innermost, photosensitivity, light-sensitive layer of tissue (biology), tissue of the eye of most vertebrates and some Mollusca, molluscs. The optics of the eye create a focus (optics), focused two-dimensional ...
. The optic disc originates from the optic cup when the
optic vesicle The eyes begin to develop as a pair of diverticula (pouches) from the lateral aspects of the forebrain. These diverticula make their appearance before the closure of the anterior end of the neural tube; after the closure of the tube around the 4t ...
invaginates and forms an embryonic fissure (or groove). Optic pits may develop due to failure of the superior end of the embryonic fissure to close completely.


Risk factors

No particular risk factors have been conclusively identified; however, there have been a few reports that demonstrate an
autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
pattern of inheritance in some families. Therefore, a family history of optic pits may be a possible risk factor.


Associated retinal changes

Optic pits have been associated with serous retinal detachments in up to as many as 50% of all cases. These detachments may occur at any age but most frequently present in early adulthood. The most popular theory behind this association is a separation of the layers of the
retina The retina (; or retinas) is the innermost, photosensitivity, light-sensitive layer of tissue (biology), tissue of the eye of most vertebrates and some Mollusca, molluscs. The optics of the eye create a focus (optics), focused two-dimensional ...
, known as
retinoschisis Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory layers, usually in the outer plexiform layer. Retinoschisis can be divided into degenerative forms which are very common and almost exclusively i ...
, due to fluid (the
vitreous humour The vitreous body (''vitreous'' meaning "glass-like"; , ) is the clear gel that fills the space between the lens and the retina of the eyeball (the vitreous chamber) in humans and other vertebrates. It is often referred to as the vitreous hum ...
) entering the optic pit and traveling between the inner and outer layers of the retina. The outer layer may then subsequently detach. Evidence of retinoschisis has been demonstrated using OCT. Centrally located optic pits are less likely to cause changes in the retina. However, if located more peripherally in the optic disc, then it is more likely to cause a serous retinal detachment. Furthermore, if the optic pit is located temporally (which the majority are), then it is more likely to cause detachment of the
macula The macula (/ˈmakjʊlə/) or macula lutea is an oval-shaped pigmented area in the center of the retina of the human eye and in other animals. The macula in humans has a diameter of around and is subdivided into the umbo, foveola, foveal avas ...
because of the macula's proximity to the temporal side of the optic disc. If serous macular detachment occurs, a patient's
visual acuity Visual acuity (VA) commonly refers to the clarity of visual perception, vision, but technically rates an animal's ability to recognize small details with precision. Visual acuity depends on optical and neural factors. Optical factors of the eye ...
may become as poor as 20/200 or worse. Treatment for optic pit-associated macular detachment involves photocoagulation of the retina by use of an
ion laser An ion laser is a gas laser that uses an ionized gas as its lasing medium. Like other gas lasers, ion lasers feature a sealed cavity containing the laser medium and mirrors forming a Fabry–Pérot resonator. Unlike helium–neon lasers, th ...
(either krypton or argon). This procedure works by burning one or more rows in between the optic disc and areas of serous retinal detachment. In most cases, macular reattachment results and visual acuity can be restored to about 20/80. This procedure may also be utilized prior to macular detachment in order to help prevent the future development of macular detachment. Other treatments for optic pit-associated macular detachment include macular buckling, gas tamponade, or
vitrectomy Vitrectomy is a surgery to remove some or all of the vitreous humor from the Human eye, eye. Anterior vitrectomy entails removing small portions of the vitreous humor from the front structures of the eye—often because these are tangled in an i ...
. Some experts feel that the best results can be attained when the use of any of the above-mentioned modalities (laser photocoagulation, macular buckling, gas tamponade, and vitrectomy) are used in combination.


Diagnosis

Optic pits should be diagnosed by an
eye care professional An eye care professional is an individual who provides a service related to the eyes or vision. It is any healthcare worker involved in eye care, from one with a small amount of post-secondary training to practitioners with a doctoral level of edu ...
who can perform a thorough exam of the back of the eye using an
ophthalmoscope Ophthalmoscopy, also called funduscopy, is a test that allows a health professional to see inside the fundus of the eye and other structures using an ophthalmoscope (or funduscope). It is done as part of an eye examination and may be done as part ...
. More recently, the development of a special technology called
optical coherence tomography Optical coherence tomography (OCT) is a high-resolution imaging technique with most of its applications in medicine and biology. OCT uses coherent near-infrared light to obtain micrometer-level depth resolved images of biological tissue or oth ...
(OCT) has allowed better visualization of the retinal layers. It has been used to demonstrate a marked reduction in the thickness of the retinal
nerve fiber layer The retinal nerve fiber layer (RNFL) or nerve fiber layer, stratum opticum, is part of the anatomy of the eye. Physical structure The RNFL formed by the expansion of the fibers of the optic nerve; it is thickest near the optic disc, gradually d ...
in the quadrant corresponding to the optic pit. This is not yet in standard use for diagnosis of an optic pit, but may be helpful in supporting a diagnosis.


Treatment

Optic pits themselves do not need to be treated. However, patients should follow up with their eye care professional annually or even sooner if the patient notices any visual loss whatsoever. Treatment of PVD or serous
retinal detachment Retinal detachment is a condition where the retina pulls away from the tissue underneath it. It may start in a small area, but without quick treatment, it can spread across the entire retina, leading to serious vision loss and possibly blindness. ...
will be necessary if either develops in a patient with an optic pit. Optic disc
maculopathy A maculopathy is any pathological condition of the macula, an area at the centre of the retina that is associated with highly sensitive, accurate vision. Forms of maculopathies * Age-Related Macular Degeneration is a degenerative maculopathy ass ...
can be treated with
vitrectomy Vitrectomy is a surgery to remove some or all of the vitreous humor from the Human eye, eye. Anterior vitrectomy entails removing small portions of the vitreous humor from the front structures of the eye—often because these are tangled in an i ...
(removal of the vitreous in the eye).


Occurrence

Optic pits occur equally between men and women. They are seen in roughly 1 in 10,000 eyes, and approximately 85% of optic pits are found to be unilateral (i.e. in only one eye of any affected individual). About 70% are found on the temporal side (or
lateral Lateral is a geometric term of location which may also refer to: Biology and healthcare * Lateral (anatomy), a term of location meaning "towards the side" * Lateral cricoarytenoid muscle, an intrinsic muscle of the larynx * Lateral release ( ...
one-half) of the optic disc. Another 20% are found centrally, while the remaining pits are located either superiorly (in the upper one-half), inferiorly (in the lower one-half), or nasally (in the medial one-half towards the nose).


References

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External links

* * {{DEFAULTSORT:Optic Disc Pit Eye Eye diseases