Congenital cataract

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Congenital cataract
Cataracts due to Congenital Rubella Syndrome (CRS) PHIL 4284 lores.jpg
Bilateral cataracts in an infant due to congenital rubella syndrome.
Specialty Medical genetics, ophthalmology   OOjs UI icon edit-ltr-progressive.svg

Congenital cataracts are a lens opacity that is present at birth. Congenital cataracts occur in a broad range of severity. Some lens opacities do not progress and are visually insignificant, others can produce profound visual impairment.

Contents

Congenital cataracts may be unilateral or bilateral. They can be classified by morphology, presumed or defined genetic cause, presence of specific metabolic disorders, or associated ocular anomalies or systemic findings. [1]

Treatment options depend on the severity of the condition. For children under the age of two years old whose vision is affected by the cataracts in both eyes, surgical options include intraocular lens implantation or a lensectomy. [2]

Congenital cataracts are considered to be a significant cause of childhood blindness. This condition is considered 'treatable' with early intervention and compared to other types of childhood visual loss problems, however, in parts of the world where treatment options are not available such as some low-income countries, the condition may go untreated and the person may lose their vision. [2] Early in life treatment is important, especially during development, in order that the person's eyes and visual system develops normally. [2]

Signs and symptoms

Congenital cataract in an adult White congenital cataract.tif
Congenital cataract in an adult

Congenital cataracts occur in a variety of morphologic configurations, including lamellar, polar, sutural, coronary, cerulean, nuclear, capsular, complete, membranous. Some signs that a child may have a cataract can the child being unable to follow faces or objects, inward or outward deviation of one or both eyes, shaking of one or both eyes, and/or the presence of white reflex in one or both eyes.

[3]

Cause

In general, approximately one-third of congenital cataracts are a component of a more extensive syndrome or disease (e.g., cataract resulting from congenital rubella syndrome), one-third occur as an isolated inherited trait, and one-third result from undetermined causes. Metabolic diseases tend to be more commonly associated with bilateral cataracts.

Genetic & MetabolicInfectionsAnomaliesToxic
Down syndrome

Hallermann-Streiff syndrome

Lowe syndrome

Galactosemia

Cockayne syndrome

Marfan syndrome

Trisomy 13- 15

Hypoglycemia

Alport syndrome

Myotonic dystrophy

Fabry disease

Hypoparathyroidism

Conradi syndrome

Incontinentia pigmenti

Toxoplasmosis

Other (Coxsackievirus, Syphilis, Varicella-Zoster, HIV, and Parvo B19)

Rubella

Cytomegalovirus

Herpes Simplex (HSV-1, HSV-2)

Aniridia

Anterior segment dysgenesis

Persistent fetal vasculature (PFV)

Posterior lenticonus

Corticosteroids

Radiation

Ultrasound axial scan of the fetal head with eye movements and a unilateral lens opacity seen at 20 weeks of pregnancy

Genetics

Approximately 50% of all congenital cataract cases may have a genetic cause which is quite heterogeneous. It is known that different mutations in the same gene can cause similar cataract patterns, while the highly variable morphologies of cataracts within some families suggest that the same mutation in a single gene can lead to different phenotypes. More than 25 loci and genes on different chromosomes have been associated with congenital cataract. Mutations in distinct genes, which encode the main cytoplasmic proteins of human lens, have been associated with cataracts of various morphologies, including genes encoding crystallins (CRYA, CRYB, and CRYG), lens specific connexins (Cx43, Cx46, and Cx50), major intrinsic protein (MIP) or Aquaporin, cytoskeletal structural proteins, paired-like homeodomain transcription factor 3 (PITX3), avian musculoaponeurotic fibrosarcoma (MAF), and heat shock transcription factor 4 (HSF4). [4]

Diagnosis

All newborns should have screening eye examinations, including an evaluation of the red reflexes.

- Urine test for reducing substance, galactose 1-phosphate uridyltransferase, galactokinase, amino acids
- Infectious diseases: TORCH and varicella titers, VDRL
- Serum calcium, phosphorus, glucose and ferritin

Treatment

Surgery

In general, the younger the child, the greater the urgency in removing the cataract, because of the risk of amblyopia during development. For optimal visual development in newborns and young infants, a visually significant unilateral congenital cataract should be detected and removed before age 6 weeks, and visually significant bilateral congenital cataracts should be removed before age 10 weeks. [1] Surgical options if the cataracts are bilateral and the vision is compromised include removing the affected lens of the eye and correcting the vision as early as possible so that the infants eyes can develop normally with visual stimuli.

Some congenital cataracts are too small to affect vision, therefore no surgery or treatment will be done. If they are superficial and small, an ophthalmologist will continue to monitor them throughout a patient's life. Commonly, a patient with small congenital cataracts that do not affect vision will eventually be affected later in life; generally this will take decades to occur. [5]

Prognosis

The prognosis for a congenital cataract varies based on several factors. These factors include clouding of the lens present at birth, time of detection, and effectiveness of treatment. When detected early, a congenital cataract has the most favorable outcome. Most cases of congenital cataracts require surgery to remove the cataract, but advancements in pediatric ophthalmology and surgical techniques have significantly improved success rates. Prompt surgical intervention can help restore vision. Early intervention can also prevent long-term conditions such as amblyopia, also known as lazy eye. The prognosis may be influenced by associated conditions or complications. Follow-up care is essential to monitor visual development and address any potential challenges that may arise. With timely and appropriate management, many individuals with congenital cataracts can achieve good visual outcomes and lead fulfilling lives.

Epidemiology

Related Research Articles

<span class="mw-page-title-main">Cataract</span> Clouding of the lens inside the eye, causing poor vision

A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or double vision, halos around light, trouble with bright lights, and difficulty seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide.

<span class="mw-page-title-main">Esotropia</span> Form of strabismus

Esotropia is a form of strabismus in which one or both eyes turns inward. The condition can be constantly present, or occur intermittently, and can give the affected individual a "cross-eyed" appearance. It is the opposite of exotropia and usually involves more severe axis deviation than esophoria. Esotropia is sometimes erroneously called "lazy eye", which describes the condition of amblyopia; a reduction in vision of one or both eyes that is not the result of any pathology of the eye and cannot be resolved by the use of corrective lenses. Amblyopia can, however, arise as a result of esotropia occurring in childhood: In order to relieve symptoms of diplopia or double vision, the child's brain will ignore or "suppress" the image from the esotropic eye, which when allowed to continue untreated will lead to the development of amblyopia. Treatment options for esotropia include glasses to correct refractive errors, the use of prisms, orthoptic exercises, or eye muscle surgery. The term is from Greek eso meaning "inward" and trope meaning "a turning".

The National Eye Institute (NEI) is part of the U.S. National Institutes of Health (NIH), an agency of the U.S. Department of Health and Human Services. The mission of NEI is "to eliminate vision loss and improve quality of life through vision research." NEI consists of two major branches for research: an extramural branch that funds studies outside NIH and an intramural branch that funds research on the NIH campus in Bethesda, Maryland. Most of the NEI budget funds extramural research.

<span class="mw-page-title-main">Strabismus</span> Eyes not aligning when looking at something

Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is pointed at an object can alternate. The condition may be present occasionally or constantly. If present during a large part of childhood, it may result in amblyopia, or lazy eyes, and loss of depth perception. If onset is during adulthood, it is more likely to result in double vision.

<span class="mw-page-title-main">Amblyopia</span> Failure of the brain to process input from one eye

Amblyopia, also called lazy eye, is a disorder of sight in which the brain fails to fully process input from one eye and over time favors the other eye. It results in decreased vision in an eye that typically appears normal in other aspects. Amblyopia is the most common cause of decreased vision in a single eye among children and younger adults.

<span class="mw-page-title-main">Cataract surgery</span> Removal of opacified lens from the eye

Cataract surgery, also called lens replacement surgery, is the removal of the natural lens of the human eye that has developed a cataract, an opaque or cloudy area. The eye's natural lens is usually replaced with an artificial intraocular lens (IOL).

<span class="mw-page-title-main">Coloboma</span> Hole in one of the structures of the eye

A coloboma 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 present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births.

<span class="mw-page-title-main">Visual impairment</span> Decreased ability to see

Visual or vision impairment is the partial or total inability of visual perception. For the former and latter case, the terms low vision and blindness respectively are often used. In the absence of treatment such as corrective eyewear, assistive devices, and medical treatment – visual impairment may cause the individual difficulties with normal daily tasks including reading and walking. In addition to the various permanent conditions, fleeting temporary vision impairment, amaurosis fugax, may occur, and may indicate serious medical problems.

<span class="mw-page-title-main">Congenital fourth nerve palsy</span> Medical condition

Congenital fourth nerve palsy is a condition present at birth characterized by a vertical misalignment of the eyes due to a weakness or paralysis of the superior oblique muscle.

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

Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea.

<span class="mw-page-title-main">Hypertropia</span> Condition of misalignment of the eyes

Hypertropia is a condition of misalignment of the eyes (strabismus), whereby the visual axis of one eye is higher than the fellow fixating eye. Hypotropia is the similar condition, focus being on the eye with the visual axis lower than the fellow fixating eye. Dissociated vertical deviation is a special type of hypertropia leading to slow upward drift of one or rarely both eyes, usually when the patient is inattentive.

<span class="mw-page-title-main">Ptosis (eyelid)</span> Drooping of the upper eyelid over the eye

Ptosis, also known as blepharoptosis, is a drooping or falling of the upper eyelid. This condition is sometimes called "lazy eye," but that term normally refers to the condition amblyopia. If severe enough and left untreated, the drooping eyelid can cause other conditions, such as amblyopia or astigmatism, so it is especially important to treat the disorder in children before it can interfere with vision development.

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">Persistent fetal vasculature</span> Medical condition

Persistent fetal vasculature(PFV), also known as persistent fetal vasculature syndrome (PFVS), and until 1997 known primarily as persistent hyperplastic primary vitreous (PHPV), is a rare congenital anomaly which occurs when blood vessels within the developing eye, known as the embryonic hyaloid vasculature network, fail to regress as they normally would in-utero after the eye is fully developed. Defects which arise from this lack of vascular regression are diverse; as a result, the presentation, symptoms, and prognosis of affected patients vary widely, ranging from clinical insignificance to irreversible blindness. The underlying structural causes of PFV are considered to be relatively common, and the vast majority of cases do not warrant additional intervention. When symptoms do manifest, however, they are often significant, causing detrimental and irreversible visual impairment. Persistent fetal vasculature heightens the lifelong risk of glaucoma, cataracts, intraocular hemorrhages, and Retinal detachments, accounting for the visual loss of nearly 5% of the blind community in the developed world. In diagnosed cases of PFV, approximately 90% of patients with a unilateral disease have associated poor vision in the affected eye.

<span class="mw-page-title-main">Nance–Horan syndrome</span> Rare X-linked dominant condition

Nance–Horan syndrome is a rare X-linked dominant syndrome characterized by congenital cataracts leading to profound vision loss, characteristic dysmorphic features, and dental anomalies. Microcornea, microphthalmia, and mild or moderate intellectual disability may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males.

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

Childhood blindness is an important contribution to the national prevalence of the disability of blindness. Blindness in children can be defined as a visual acuity of <3/60 in the eye with better vision of a child under 16 years of age. This generally means that the child cannot see an object 10 feet away, that another child could see if it was 200 feet away.

Childhood cataract is cataract that occurs at birth or in childhood. It may be congenital or acquired.

<span class="mw-page-title-main">Cataract-microcornea syndrome</span> Medical condition

Cataract-microcornea syndrome is a rare genetic syndrome characterized by congenital cataracts and microcornea in the absence of any other systemic anomaly or dysmorphism. Clinical findings include a reduction in corneal diameter in both meridians in an otherwise normal eye, as well as an inherited cataract, that is primarily bilateral posterior polar with opacification within the lens periphery which advances to form a total cataract after visual maturity is achieved. Other ocular manifestations, such as myopia, iris coloboma, sclerocornea, and Peters anomaly, may be observed.

<span class="mw-page-title-main">Congenital blindness</span>

Congenital blindness refers to blindness present at birth. Congenital blindness is sometimes used interchangeably with "Childhood Blindness." However, current literature has various definitions of both terms. Childhood blindness encompasses multiple diseases and conditions present in ages up to 16 years old, which can result in permanent blindness or severe visual impairment over time. Congenital blindness is a hereditary disease and can be treated by gene therapy. Visual loss in children or infants can occur either at the prenatal stage or postnatal stage. There are multiple possible causes of congenital blindness. In general, 60% of congenital blindness cases are contributed from prenatal stage and 40% are contributed from inherited disease. However, most of the congenital blindness cases show that it can be avoidable or preventable with early treatment.

<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.

References

  1. 1 2 3 Basic and clinical science course (2011–2012). Pediatric ophthalmology and Strabismus. American Academy of Ophthalmology. ISBN   978-1615251131.
  2. 1 2 3 Singh, Ritvij; Barker, Lucy; Chen, Sean I; Shah, Anupa; Long, Vernon; Dahlmann-Noor, Annegret (2022-09-15). Cochrane Eyes and Vision Group (ed.). "Surgical interventions for bilateral congenital cataract in children aged two years and under". Cochrane Database of Systematic Reviews. 2022 (9): CD003171. doi:10.1002/14651858.CD003171.pub3. PMC   9477380 . PMID   36107778.
  3. Singh, VivekMahendrapratap; Badakere, Akshay; Patil-Chhablani, Preeti; Kekunnaya, Ramesh (2021). "Profile of congenital cataract in the first year of life from a tertiary care center in South India – A modern series". Indian Journal of Ophthalmology. 69 (4): 932–936. doi: 10.4103/ijo.IJO_1558_20 . ISSN   0301-4738. PMC   8012959 . PMID   33727462.
  4. Santana, A; Waiswo, M (Mar–Apr 2011). "The genetic and molecular basis of congenital cataract". Arquivos Brasileiros de Oftalmologia. 74 (2): 136–42. doi: 10.1590/S0004-27492011000200016 . PMID   21779674.
  5. "Facts About Cataract | National Eye Institute". nei.nih.gov. Retrieved 2017-10-18.