Cataract in children: causes, symptoms, diagnosis, treatment

Cataract is any clouding of the lens. The relationship between deprivation amblyopia and cataracts that develop in early childhood underscores the importance of eliminating this cause of disability in children. Early diagnosis and treatment are the main steps that must be taken to prevent permanent vision loss.

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Causes of cataracts

The etiology of cataracts cannot be determined in all cases. However, careful morphological examination, questioning of parents and appropriate laboratory testing help to establish the diagnosis in many patients.

Common causes of cataracts in children include:

• heredity;
• autosomal recessive heredity (rare, with the exception of metabolic disorders);
• autosomal dominant heredity - anterior polar, lamellar cataracts (may be combined with microphthalmos);
• X-linked recessive trait (Lowe, Nance-Horan, Lenz syndromes).

Intrauterine infections

The introduction of mandatory vaccination has significantly reduced the incidence of rubella embryopathy. However, a child with diffuse cataract, either unilateral or bilateral, should be examined to exclude rubella virus carriage; for this purpose, the child and mother are tested for the presence of antibodies to immunoglobulin G (IgG) and IgM.

Metabolic disorders

The development of cataracts is associated with a wide variety of metabolic disorders, including the following.

• Galactosemia is caused by a mutation in the gene encoding galactose-1-phosphate uridyltransferase and localized on the short arm of chromosome 9. Symptoms include diarrhea, vomiting, jaundice, hepatomegaly, and gram-positive septicemia. Cataracts are usually not detected until the child has general complaints. Heterozygosity for galactosemia creates a risk of developing cataracts during puberty.

Prescribing a dairy-free diet at the very beginning of the disease prevents the formation of cataracts.

• Wilson's disease is a disorder of iron metabolism, accompanied by subcapsular cataracts resembling a sunflower flower.
• Hypocalcemia is a combination of epileptic seizures, developmental disorders, and soft, whitish, pinpoint opacities in the lens.
• Diabetes mellitus - in adolescence, with juvenile diabetes, opacities of the cortical layers of the lens often occur.
• Hypoglycemia - starting in early childhood, causes reversible opacities of the lens.
• An autosomal recessive syndrome including lactic acidosis, mitochondrial abnormalities, hypertrophic cardiomyopathy, and congenital cataracts.

Chromosomal pathology and other syndromes

• Trisomy 21 - mature cataracts, often occurring in early childhood.
• Cri du chat syndrome is caused by a partial deletion of the short arm of chromosome 5 and is associated with low-set ears and a heart defect.
• Hallermann-Streiff-Francois syndrome. A combination of dyscephaly, dwarfism, hypotrichosis of the eyelashes, dental anomalies, blue sclera, and congenital cataracts.
• Martsolf syndrome - mental retardation, micrognathia, brachycephaly, flattening of the upper jaw, wide sternum and persistent foot deformity.
• Marinesco-Sjogren syndrome - mental retardation, cerebral ataxia, myopathy.
• Chondrodysplasia punctata - occurs in 3 forms: autosomal recessive, X-linked dominant and autosomal dominant. X-linked cataracts, muscle spasticity and mental retardation. Autosomal recessive encephalo-oculofacial-skeletal syndrome - mental retardation, microcephaly, ankylosis of joints, micrognathia.
• Czeizel-Lowry syndrome - microcephaly, Perthes disease of the hip joint and cataracts.
• Killian-Pallister-Mosaic syndrome - coarse facial features, sagging jowls, hypertelorism, thinning hair, and cataracts. Tetrasomy 12 short arm.
• Progressive spinocerebral ataxia, hearing loss, peripheral neuropathy and cataracts.
• Proximal myopathy with weakness of facial and ocular muscles, hypogonadism, ataxia and cataracts.
• Schwartz-Jampel syndrome is a congenital myotonic myopathy, ptosis, skeletal abnormalities, microphthalmos and cataracts.
• Cataracts, mental retardation, microdontia, and hypertrichosis.
• Velo-cardio-facial syndrome - protruding nose, indentation of the wings of the nose, micrognathia, cleft palate.
• Other.

Steroid and radiation cataract

Long-term corticosteroid therapy carries a risk of developing posterior subcapsular cataracts, which regress if steroid treatment is stopped quickly. Similar cataracts occur in children receiving radiation therapy.

Uveitis

Posterior subcapsular cataracts often form in association with pars planitis and juvenile rheumatoid arthritis.

Prematurity

There are reports of transient opacities along the posterior lens suture in premature infants.

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Cataract treatment

Preoperative examination

In cases of congenital binocular and progressive cataracts, if the opacity closes the optical axis, early surgical intervention is certainly indicated. In partial cataracts, it is difficult to determine whether the lens opacity can cause amblyopia. In such cases, the morphology of the cataract helps: nuclear cataracts more often provoke the development of amblyopia than lamellar ones. Nevertheless, to clarify the advisability of surgical intervention in a patient with lamellar cataract, a dynamic examination is necessary.

To clarify the possibility of a negative impact of combined pathology on the functional effect of the operation, it is important to assess the condition of other structures of the eyeball.

Monocular congenital cataracts

The issue of mandatory surgical removal of congenital monocular cataracts remains relevant. Despite the fact that some children who undergo surgery in the first months of life manage to achieve excellent visual acuity, most patients with monocular congenital cataracts have low visual acuity. Parents should be warned about the difficulty of achieving a high and stable functional effect.

General examination

A general examination of a patient with congenital or developing cataract should be agreed upon with a pediatrician. In some cases, the morphology of the lens opacity itself (e.g., in the case of PGPS) indicates that a general examination is not necessary. In other cases, a detailed examination is indicated to exclude metabolic or infectious causes of the disease.

Cataract surgery in children

For newborns, the most appropriate method for removing monocular or binocular congenital cataracts is the closed-eye lensvitrectomy technique. This procedure provides a free optical center and access to retinoscopy in the postoperative period. The technique does not involve a significant risk of retinal detachment, although long-term patient observation remains necessary in the postoperative period.

In children over 2 years of age, if intraocular lens implantation is possible, the standard lens aspiration technique is preferable.

In the early postoperative period, a large number of these patients require YAG laser capsulotomy due to opacification of the posterior capsule.

Phacoemulsification technique is rarely used in pediatric patients.