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 the ...
(also optic nerve head), resulting from a
malformation
A birth defect, also known as a congenital disorder, 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 r ...
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
In medicine, any disease is classified asymptomatic if a patient tests as carrier for a disease or infection but experiences no symptoms. Whenever a medical condition fails to show noticeable symptoms after a diagnosis it might be considered asy ...
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 disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized, but without rapid treatment the entire retina may detach, leading to vision loss and blin ...
. 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 the "spatial array of visual sensations available to observation in introspectionist psychological experiments". Or simply, visual field can be defined as the entire area that can be seen when an eye is fixed straight at a point ...
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 mam ...
.
Visual acuity
Visual acuity (VA) commonly refers to the clarity of vision, but technically rates an examinee's ability to recognize small details with precision. Visual acuity is dependent on optical and neural factors, i.e. (1) the sharpness of the retinal ...
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 and parts of the grid may appear blank. People can first notice they suffer with the condition when looking at mini-blinds in their home. For examp ...
(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 the ...
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 presen ...
of the optic disc, and colobomas of the
retina
The retina (from la, rete "net") is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then ...
. 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 4th ...
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 effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
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 (from la, rete "net") is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then ...
, 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 humor ...
) 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 vision, but technically rates an examinee's ability to recognize small details with precision. Visual acuity is dependent on optical and neural factors, i.e. (1) the sharpness of the retinal ...
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, the e ...
(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 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 intraocular ...
. 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 (ECP) 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 ...
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 an imaging technique that uses low-coherence light to capture micrometer-resolution, two- and three-dimensional images from within optical scattering media (e.g., biological tissue). It is used for medical ...
(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 formed by the expansion of the fibers of the optic nerve; it is thickest near the optic disc, gradually diminishing toward the ora serrata.
As the nerve fibers pass th ...
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 disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized, but without rapid treatment the entire retina may detach, leading to vision loss and blin ...
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 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 intraocular ...
(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 refer to:
Healthcare
*Lateral (anatomy), an anatomical direction
*Lateral cricoarytenoid muscle
*Lateral release (surgery), a surgical procedure on the side of a kneecap
Phonetics
*Lateral cons ...
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
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Eye diseases