Congenital cataract

Short description: Opacity in the eye's lens present at birth

Congenital cataract

Bilateral cataracts in an infant due to congenital rubella syndrome.

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.

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]

## Contents

* 1 Signs and symptoms
* 2 Cause
* 2.1 Genetics
* 3 Diagnosis
* 4 Treatment
* 4.1 Surgery
* 5 Prognosis
* 6 Epidemiology
* 7 References
* 8 External links

## Signs and symptoms

File:White congenital cataract.tif 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 are 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.[citation needed]

Genetic & Metabolic | Infections | Anomalies | Toxic

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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

File:Fetal cataract.ogv

### 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.[citation needed]

* The red reflex test is best performed in a darkened room and involves shining a bright direct ophthalmoscope into both eyes simultaneously from a distance of 1– 2 ft. This test can be used for routine ocular screening by nurses, pediatricians, family practitioners, and optometrists.
* Retinoscopy through the child's undilated pupil is helpful for assessing the potential visual significance of an axial lens opacity in a pre-verbal child. Any central opacity or surrounding cortical distortion greater than 3 mm can be assumed to be visually significant.
* Laboratory Tests : In contrast to unilateral cataracts, bilateral congenital cataracts may be associated with many systemic and metabolic diseases. A basic laboratory evaluation for bilateral cataracts of unknown cause in apparently healthy children includes:[1]

\- 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

Main article: Physics:Cataract 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.[citation needed]

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.[citation needed]

## Epidemiology

* Congenital cataracts are responsible for nearly 10% of all vision loss in children worldwide.[citation needed]
* Congenital cataracts are one of the most common treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1 to 6 cases per 10,000 live births.[citation needed]

## References

1. ↑ 1.0 1.1 1.2 Basic and clinical science course (2011–2012). Pediatric ophthalmology and Strabismus. American Academy of Ophthalmology. ISBN 978-1-61525-113-1.
2. ↑ 2.0 2.1 2.2 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" (in en). Cochrane Database of Systematic Reviews 2022 (9). doi:10.1002/14651858.CD003171.pub3. 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" (in en). Indian Journal of Ophthalmology 69 (4): 932–936. doi:10.4103/ijo.IJO_1558_20. ISSN 0301-4738. 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" (in en). https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/cataracts.

## External links

Classification|

* ICD-10: Q12.0
* ICD-9-CM: 743.3

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External resources|

* MedlinePlus: 001615

* v
* t
* e

* Diseases of the human eye (H00–H59
* 360–379)

Adnexa

| Eyelid|

| Inflammation|

* Stye
* Chalazion
* Blepharitis

|

* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma

Eyelash|

* Trichiasis
* Madarosis

Lacrimal apparatus|

* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia

Orbit|

* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis

Conjunctiva|

* Conjunctivitis
* allergic
* Pterygium
* Pinguecula
* Subconjunctival hemorrhage

Globe

| Fibrous tunic|

| Sclera|

* Scleritis
* Episcleritis

|

Cornea|

* Keratitis
* herpetic
* acanthamoebic
* fungal
* Corneal ulcer
* Photokeratitis
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy

Vascular tunic|

* Iris
* Ciliary body

* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia

|

Choroid|

* Choroideremia
* Choroiditis
* Chorioretinitis

Lens|

* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis

Retina|

* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy

Other|

* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy

Pathways

| Optic nerve
Optic disc|

* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen

Optic neuropathy|

* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional

Strabismus
Extraocular muscles
Binocular vision
Accommodation|

| Paralytic strabismus|

* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome

palsies|

* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)

Other strabismus|

* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome

Other binocular|

* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome

Refraction|

* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia

Vision disorders
Blindness|

* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment

Anopsia|

* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia

subjective|

* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma

Pupil|

* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome

Other|

* Nystagmus
* Childhood blindness

Infections

* Trachoma
* Onchocerciasis

* v
* t
* e

Optical illusions (list)

Illusions|

* Afterimage
* Ambiguous image
* Ames room
* Barberpole
* Bezold
* Café wall
* Checker shadow
* Chubb
* Cornsweet
* Delboeuf
* Ebbinghaus
* Ehrenstein
* Flash lag
* Fraser spiral
* Gravity hill
* Grid
* Hering
* Impossible trident
* Jastrow
* Lilac chaser
* Mach bands
* McCollough
* Müller-Lyer
* Necker cube
* Orbison
* Penrose stairs
* Penrose triangle
* Peripheral drift
* Poggendorff
* Ponzo
* Rubin vase
* Sander
* Schroeder stairs
* Shepard tables
* Spinning Dancer
* Ternus
* Vertical–horizontal
* White's
* Wundt
* Zöllner

Popular culture|

* Op art
* Trompe-l'œil
* Spectropia (1864 book)
* Ascending and Descending (1960 drawing)
* Waterfall (1961 drawing)
* The dress (2015 photograph)

Related|

* Auditory illusions
* Tactile illusions
* Temporal illusion

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