Primary congenital glaucoma

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Primary congenital glaucoma
Other names"trabeculodysgenesis", "goniodysgenesis". "childhood glaucoma"
Buphthalmus.jpg
A child with right eye buphthalmos, developed due to congenital glaucoma.
Specialty Ophthalmology
Symptoms Buphthalmos. Photophobia, Epiphora
CausesDevelopmental anomalies in the eye's drainage system
TreatmentGoniotomy, trabeculotomy [1]

Primary congenital glaucoma is a rare eye condition that is present at birth or develops early in childhood. It occurs due to improper drainage of the eye's fluids, which leads to increased pressure inside the eye, known as intraocular pressure. This elevated pressure can damage the optic nerve which will result permanent vision loss. [2] [3] It is also known as pediatric glaucoma or childhood glaucoma, and was previously known as trabeculodysgenesis or goniodysgenesis.

Contents

Types

Primary congenital glaucoma is classified into three subtypes: [4]

Primary juvenile glaucoma

Primary juvenile glaucoma becomes apparent between the ages of 3 and 40. [4] It develops due to ocular hypertension and is diagnosed between three years of age and early adulthood. [5] [6] It is caused due to abnormalities in the anterior chamber angle development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformation. [7]

History

In the late 19th and early 20th centuries, the disease was commonly referred to by terms such as trabeculodysgenesis and goniodysgenesis, emphasizing the developmental anomalies in the eye's drainage structures. It was considered untreatable at the time, with most cases resulting in inevitable vision loss and blindness due to elevated intraocular pressure. In the early 20th century, Dr. Paul Chandler identified congenital glaucoma as a distinct medical condition. Later, Dr. Janey Wiggs, a researcher at Harvard Medical School, conducted studies identifying new genetic mutations associated with congenital glaucoma, such as the thrombospondin-1 (THBS1) gene. [8]

Causes and symptoms

The condition is often caused by developmental anomalies in the eye's drainage system. Genetic factors play a significant role, with several mutations identified like thrombospondin-1 that contribute to the development of congenital glaucoma. [9] [10] Common symptoms of primary congenital glaucoma include. [11]

Presentation

The typical infant who has congenital glaucoma usually is initially referred to an ophthalmologist because of apparent corneal edema. The commonly described triad of epiphora (excessive tearing), blepharospasm and photophobia may be missed until the corneal edema becomes apparent. [7]

Systemic associations

Two of the more commonly encountered disorders that may be associated with congenital glaucoma are Aniridia and Sturge–Weber syndrome.[ citation needed ]

Diagnosis

The diagnosis is clinical. The intraocular pressure (IOP) can be measured in the office in a conscious swaddled infant using a Tonopen or hand-held Goldmann tonometer. Usually, the IOP in normal infants is in the range of 11-14 mmHg. [7] Buphthalmos and Haab's striae can often be seen in case of congenital glaucoma.[ citation needed ]

Its diagnosis process typically involves an eye examination, including measurement of intraocular pressure, corneal diameter, and optic nerve assessment. Goniotomy is one surgical option, where surgeons cut into the eye's drainage angle to access the trabecular meshwork, using a gonioscope for visibility. If the drainage angle isn't clearly visible through the cornea, a trabeculotomy is performed, cutting into the sclera with an electrocautery device called a trabeculotome. If these approaches are ineffective, a trabeculectomy may be considered, removing part of the trabecular meshwork through the sclera to create a new drainage pathway. Alternatively, a glaucoma drainage device (tube shunt) may be implanted to drain fluids onto a plate beneath the conjunctiva. Early detection of this medical condition is important for prevention of vision loss. [12]

Differential diagnosis

Corneal cloudiness may have myriad of causes. Corneal opacity that results from hereditary dystrophies is usually symmetric. Corneal enlargement may result from megalocornea, a condition in which the diameter of the cornea is larger than usual and the eye is otherwise normal.[ citation needed ]

Treatment

The preferred treatment of congenital glaucoma is surgical, not medical. The initial procedures of choice are goniotomy or trabeculotomy if the cornea is clear, and trabeculectomy ab externo if the cornea is hazy. The success rates are similar for both procedures in patients with clear corneas. Trabeculectomy and shunt procedures should be reserved for those cases in which goniotomy or trabeculotomy has failed. Cyclophotocoagulation is necessary in some intractable cases but should be avoided whenever possible because of its potential adverse effects on the lens and the retina. [13]

Epidemiology

In the United States, the incidence of primary congenital glaucoma is about one in 10,000 live births. Worldwide, the incidence ranges from a low of 1:22,000 in Northern Ireland to a high of 1:2,500 in Saudi Arabia and 1:1,250 in Romania. In about two-thirds of cases, it is bilateral. The distribution between males and females varies with geography. In North America and Europe, it is more common in boys, whereas in Japan it is more common in girls. [14]

Genetics

Primary congenital glaucomas most commonly occur sporadically. [4] Juvenile open-angle glaucoma is typically an autosomal dominant, inherited condition. [6] [15] A primary cause is myocilin protein dysfunction. [16] Myocilin gene mutations are identified in approximately 10% of patients affected by juvenile glaucoma.[ citation needed ]

See also

Related Research Articles

<span class="mw-page-title-main">Glaucoma</span> Group of eye diseases

Glaucoma is a group of eye diseases that can lead to damage of the optic nerve. The optic nerve transmits visual information from the eye to the brain. Glaucoma may cause vision loss if left untreated. It has been called the "silent thief of sight" because the loss of vision usually occurs slowly over a long period of time. A major risk factor for glaucoma is increased pressure within the eye, known as intraocular pressure (IOP). It is associated with old age, a family history of glaucoma, and certain medical conditions or the use of some medications. The word glaucoma comes from the Ancient Greek word γλαυκός, meaning 'gleaming, blue-green, gray'.

<span class="mw-page-title-main">Eye surgery</span> Surgery performed on the eye or its adnexa

Eye surgery, also known as ophthalmic surgery or ocular surgery, is surgery performed on the eye or its adnexa. Eye surgery is part of ophthalmology and is performed by an ophthalmologist or eye surgeon. The eye is a fragile organ, and requires due care before, during, and after a surgical procedure to minimize or prevent further damage. An eye surgeon is responsible for selecting the appropriate surgical procedure for the patient, and for taking the necessary safety precautions. Mentions of eye surgery can be found in several ancient texts dating back as early as 1800 BC, with cataract treatment starting in the fifth century BC. It continues to be a widely practiced class of surgery, with various techniques having been developed for treating eye problems.

<span class="mw-page-title-main">Intraocular pressure</span> Fluid pressure inside the eye

Intraocular pressure (IOP) is the fluid pressure inside the eye. Tonometry is the method eye care professionals use to determine this. IOP is an important aspect in the evaluation of patients at risk of glaucoma. Most tonometers are calibrated to measure pressure in millimeters of mercury (mmHg).

<span class="mw-page-title-main">Red eye (medicine)</span> Eye that appears red due to illness or injury

A red eye is an eye that appears red due to illness or injury. It is usually injection and prominence of the superficial blood vessels of the conjunctiva, which may be caused by disorders of these or adjacent structures. Conjunctivitis and subconjunctival hemorrhage are two of the less serious but more common causes.

<span class="mw-page-title-main">Hyphema</span> Hemorrhage in the front chamber of the eye

Hyphema is the medical condition of bleeding in the anterior chamber of the eye between the iris and the cornea. People usually first notice a loss or decrease in vision. The eye may also appear to have a reddish tinge, or it may appear as a small pool of blood at the bottom of the iris in the cornea. A traumatic hyphema is caused by a blow to the eye. A hyphema can also occur spontaneously.

<span class="mw-page-title-main">Ocular tonometry</span> Procedure to determine intra ocular pressure

Tonometry is the procedure that eye care professionals perform to determine the intraocular pressure (IOP), the fluid pressure inside the eye. It is an important test in the evaluation of patients at risk from glaucoma. Most tonometers are calibrated to measure pressure in millimeters of mercury (mmHg), with the normal eye pressure range between 10 and 21 mmHg (13–28 hPa).

<span class="mw-page-title-main">Gonioscopy</span> Measurement of the angle between an eyes iris and cornea

In ophthalmology, gonioscopy is a routine procedure that measures the angle between the iris and the cornea, using a goniolens together with a slit lamp or operating microscope. Its use is important in diagnosing and monitoring various eye conditions associated with glaucoma.

<span class="mw-page-title-main">Glaucoma valve</span> Type of eye surgery procedure

A glaucoma valve is a medical shunt used in the treatment of glaucoma to reduce the eye's intraocular pressure (IOP).

Iridocorneal endothelial (ICE) syndromes are a spectrum of diseases characterized by slowly progressive abnormalities of the corneal endothelium and features including corneal edema, iris distortion, and secondary angle-closure glaucoma. ICE syndromes are predominantly unilateral and nonhereditary. The condition occurs in predominantly middle-aged women.Iridocorneal Endothelial (ICE) syndrome presents a unique set of challenges for both patients and ophthalmologists, and effective treatment of this group of rare ocular diseases requires a combination of diagnostic and therapeutic complexity. It's important to understand.

<span class="mw-page-title-main">Axenfeld–Rieger syndrome</span> Medical condition

Axenfeld–Rieger syndrome is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region.

<span class="mw-page-title-main">Glaucoma surgery</span> Type of eye surgery

Glaucoma is a group of diseases affecting the optic nerve that results in vision loss and is frequently characterized by raised intraocular pressure (IOP). There are many glaucoma surgeries, and variations or combinations of those surgeries, that facilitate the escape of excess aqueous humor from the eye to lower intraocular pressure, and a few that lower IOP by decreasing the production of aqueous humor.

Polycoria is a pathological condition of the eye characterized by more than one pupillary opening in the iris. It may be congenital or result from a disease affecting the iris. It results in decreased function of the iris and pupil, affecting the physical eye and visualization.

<span class="mw-page-title-main">Buphthalmos</span> Medical condition

Buphthalmos is enlargement of the eyeball and is most commonly seen in infants and young children. It is sometimes referred to as buphthalmia. It usually appears in the newborn period or the first 3 months of life. and in most cases indicates the presence of congenital (infantile) glaucoma, which is a disorder in which elevated pressures within the eye lead to structural eye damage and vision loss.

<span class="mw-page-title-main">Myocilin</span> Protein-coding gene in the species Homo sapiens

Myocilin, trabecular meshwork inducible glucocorticoid response (TIGR), also known as MYOC, is a protein which in humans is encoded by the MYOC gene. Mutations in MYOC are a major cause of glaucoma.

The Trabectome is a surgical device that can be used for ab interno trabeculotomy, a minimally invasive glaucoma surgery for the surgical management of adult, juvenile, and infantile glaucoma. The trabecular meshwork is a major site of resistance to aqueous humor outflow. As angle surgeries such as Trabectome follow the physiologic outflow pathway, the risk of complications is significantly lower than filtering surgeries. Hypotony with damage to the macula, can occur with pressures below 5 mmHg, for instance, after traditional trabeculectomy, because of the episcleral venous pressure limit. The Trabectome handpiece is inserted into the anterior chamber, its tip positioned into Schlemm's canal, and advanced to the left and to the right. Different from cautery, the tip generates plasma to molecularize the trabecular meshwork and remove it drag-free and with minimal thermal effect. Active irrigation of the trabectome surgery system helps to keep the anterior chamber formed during the procedure and precludes the need for ophthalmic viscoelastic devices. Viscoelastic devices tend to trap debris or gas bubbles and diminish visualization. The Trabectome decreases the intra-ocular pressure typically to a mid-teen range and reduces the patient's requirement to take glaucoma eye drops and glaucoma medications. The theoretically lowest pressure that can be achieved is equal to 8 mmHg in the episcleral veins. This procedure is performed through a small incision and can be done on an outpatient basis.

Micro-invasive glaucoma surgery (MIGS) is the latest advance in surgical treatment for glaucoma, which aims to reduce intraocular pressure by either increasing outflow of aqueous humor or reducing its production. MIGS comprises a group of surgical procedures which share common features. MIGS procedures involve a minimally invasive approach, often with small cuts or micro-incisions through the cornea that causes the least amount of trauma to surrounding scleral and conjunctival tissues. The techniques minimize tissue scarring, allowing for the possibility of traditional glaucoma procedures such as trabeculectomy or glaucoma valve implantation to be performed in the future if needed.

<span class="mw-page-title-main">Corneal opacity</span> Medical condition

Corneal opacification is a term used when the human cornea loses its transparency. The term corneal opacity is used particularly for the loss of transparency of cornea due to scarring. Transparency of the cornea is dependent on the uniform diameter and the regular spacing and arrangement of the collagen fibrils within the stroma. Alterations in the spacing of collagen fibrils in a variety of conditions including corneal edema, scars, and macular corneal dystrophy is clinically manifested as corneal opacity. The term corneal blindness is commonly used to describe blindness due to corneal opacity.

<span class="mw-page-title-main">Secondary glaucoma</span> Eye disorder

Secondary glaucoma is a collection of progressive optic nerve disorders associated with a rise in intraocular pressure (IOP) which results in the loss of vision. In clinical settings, it is defined as the occurrence of IOP above 21 mmHg requiring the prescription of IOP-managing drugs. It can be broadly divided into two subtypes: secondary open-angle glaucoma and secondary angle-closure glaucoma, depending on the closure of the angle between the cornea and the iris. Principal causes of secondary glaucoma include optic nerve trauma or damage, eye disease, surgery, neovascularization, tumours and use of steroid and sulfa drugs. Risk factors for secondary glaucoma include uveitis, cataract surgery and also intraocular tumours. Common treatments are designed according to the type and the underlying causative condition, in addition to the consequent rise in IOP. These include drug therapy, the use of miotics, surgery or laser therapy.

Uveitis–glaucoma–hyphaema (UGH) syndrome, also known as Ellingson syndrome, is a complication of cataract surgery, caused by intraocular lens subluxation or dislocation. The chafing of mispositioned intraocular lens over iris, ciliary body or iridocorneal angle cause elevated intraocular pressure (IOP) anterior uveitis and hyphema. It is most commonly caused by anterior chamber IOLs and sulcus IOLs but, the condition can be seen with any type of IOL, including posterior chamber lenses and cosmetic iris implants.

Ghost cell glaucoma (GCG) is a type of secondary glaucoma occurs due to long standing vitreous hemorrhage. The rigid and less pliable degenerated red blood cells block the trabecular meshwork and increase the pressure inside eyes.

References

  1. ↑ "The glaucomas". Parsons' diseases of the eye (22nd ed.). New Delhi, India: Elsevier. 15 July 2015. ISBN   978-81-312-3818-9.
  2. ↑ "The Unique and Delicate Practice of Treating Children With Primary Congenital Glaucoma". American Academy of Ophthalmology. 2024-09-01. Retrieved 2024-10-14.
  3. ↑ Oxford Academic - Human Molecular Genetics. "Primary congenital and developmental glaucomas."
  4. 1 2 3 Kaur, Kirandeep; Gurnani, Bharat (11 June 2023). "Primary Congenital Glaucoma". StatPearls. Treasure Island, Florida: StatPearls Publishing. PMID   34662067. NBK574553. Retrieved 1 October 2023– via National Libraries of Medicine.
  5. ↑ Morisette J, Côté G, Anctil JL, Plante M, Amyot M, Héon E, Trope GE, Weissenbach J, Raymond V (1995). "A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q". American Journal of Human Genetics. 56 (6): 1431–1442. PMC   1801110 . PMID   7762566.
  6. 1 2 Wiggs, JL; Damji, KF; Haines, JL; Pericak-Vance, MA; Allingham, RR (Jan 1996). "The distinction between juvenile and adult-onset primary open-angle glaucoma". American Journal of Human Genetics. 58 (1): 243–4. PMC   1914955 . PMID   8554064.
  7. 1 2 3 Yanoff, Myron; Duker, Jay S. (2009). Ophthalmology (3rd ed.). Mosby Elsevier. ISBN   9780323043328.
  8. ↑ "New Genetic Mutation Behind Childhood Glaucoma Identified". Harvard Medical School . 30 November 2022.
  9. ↑ "New genetic mutation behind childhood glaucoma identified". ScienceDaily. Retrieved 2024-10-14.
  10. ↑ Kumar, Anika; Han, Ying; Oatts, Julius T. (2024-02-22). "Genetic changes and testing associated with childhood glaucoma: A systematic review". PLOS ONE. 19 (2): e0298883. Bibcode:2024PLoSO..1998883K. doi: 10.1371/journal.pone.0298883 . ISSN   1932-6203. PMC   10883561 . PMID   38386645.
  11. ↑ Saling, Joseph. "Primary Congenital Glaucoma: What Is It and How Did My Child Get It?". WebMD. Retrieved 2024-10-15.
  12. ↑ "Congenital Glaucoma". Cleveland Clinic . 10 August 2024.
  13. ↑ Basic and clinical science course (2011–2012). Glaucoma. American Academy of Ophthalmology. ISBN   978-1615251179.
  14. ↑ Diagnosis and Treatment of Primary Congenital Glaucoma Archived 2014-10-19 at the Wayback Machine
  15. ↑ Chardoub, Abd Alkader Jafer; Blair, Kyle (26 December 2022). "Juvenile Glaucoma". StatPearls. Treasure Island, Florida: StatPearls Publishing. PMID   32965934. NBK562263. Retrieved 1 October 2023– via National Libraries of Medicine.
  16. ↑ Turalba AV, Chen TC (2008). "Clinical and Genetic Characteristics of Primary Juvenile-Onset Open-Angle Glaucoma (JOAG)". Seminars in Ophthalmology. 23 (1): 19–25. doi:10.1080/08820530701745199. PMID   18214788. S2CID   12527263.

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