Albinism in children: causes, symptoms, diagnosis, treatment

Albinism is a disorder in which the pathology of pigment cells is present, which is particularly reflected in the state of the eyes and skin. The central part of the visual analyzer is also involved in the pathological process. There are two clinical forms of the disease.

1. Eye albinism (GA):
   • X-linked ocular albinism;
   • autosomal recessive ocular albinism (ARHA).
2. Eye-skin albinism (HCA):
   • Eye-skin albinism 1 - with a deficiency of tyrosinase;
   • Eye-skin albinism 2 - with a normal content of tyrosinase;
   • Eye-skin albinism 3;
   • autosomal dominant HCA (ADGKA).

Albinism can be observed in combination with other systemic diseases.

For all forms of albinism, common features are typical:

1. Reduction of visual acuity and contrast sensitivity:
   • pathological pigmentation of the fundus;
   • hypoplasia of the foveola (Figure 13.1);
   • nystagmus;
   • violation of refraction;
   • amblyopia;
   • other factors.
2. Nystagmus. It can appear already in the first months of the child's life and, as a rule, has a pendulum or mixed shape.
3. Strabismus:
   • convergent;
   • divergent;
   • with residual binocular functions.
4. Iris irradiation. The color of the iris varies widely. There are both mild forms of the disorder, in which the brown or blue color of the iris is preserved, as well as pronounced changes, until the pink or bluish-pink color of the iris appears, with a significant decrease in pigmentation.
5. Photophobia. Occurs in connection with excessive light exposure through a translucent iris. It is this fact that explains the increase in B wave on the electroretinogram (ERG) in some patients.
6. Neurophysiological disorders. Virtually all albinos have violations of the intersection of nerve fibers in chiasm, which is manifested in the predominance of crossing nerve fibers over non-crossing. It is this fact that explains the pathological changes in visual evoked potentials (VEP)
7. Delayed development of the visual system. Children under the age of 1 year, suffering from albinism, often have visual acuity below the age norm.

[1], [2], [3]

Eye albinism

These patients, as a rule, have an X-linked recessive form of the disease, and their mothers often have transyllumination of the iris and a redistribution of the pigment at the periphery of the retina. In some cases, the disease is inherited by an autosomal recessive type. Ocular albinism is usually manifested by a decrease in visual acuity, nystagmus, transillumination of the iris, hypoplasia of the foveola and pathology of retinal pigment epithelium. Sometimes changes in the organ of vision are accompanied by hypopigmentation of the skin.

Eye-skin albinism

Eye-skin albinism is a tyrosine-neurological form of the disease and manifests itself in the pink color of the iris, the color of the hair in the color of "white steel," and the decrease in visual acuity, which, as a rule, does not exceed 6/36 (0.16). The disease is usually inherited by an autosomal recessive type.

[4], [5]

Other forms of albinism

The forms of the disease affecting the eye and skin, while the pigmentation of the eyeball, skin and hair is more pronounced than with HCA 1. An autosomal dominant type of inheritance is possible.

Albinism and common diseases

1. Chediak-Higashi Syndrome:
   • partial HCA;
   • propensity to infections;
   • hemorrhagic diathesis;
   • hepatosplenomegaly;
   • Neuropathy;
   • Inclusion of giant cytoplasmic formations in leukocytes;
   • inheritance by autosomal recessive type.
2. Syndrome of Germanic-Pudlak (Hermansky-Pudlak):
   • partial oculomotor albinism;
   • the tendency to hemorrhage associated with a disorder of platelet aggregation;
   • pulmonary fibrosis.
3. Others:
   • Cross Syndrome;
   • Albinism combined with low growth.

[6], [7], [8], [9]

Diagnosis of albinism

The diagnosis is based on a combination of clinical symptoms, neurophysiological changes and the results of a survey of relatives. The study of tyrosinase content in hair follicles reveals qualitative characteristics of tyrosinase only in patients older than 5 years of age. In clinical practice, this test is rarely used. Patients who can not detect the presence of tyrosinase usually suffer from HCA 1 and are classified as tyrosine-negative patients. Most other patients with albinism are classified as tyrosin-positive patients.

[10], [11], [12],

Tactics of management of patients with albinism

• The study of refraction and the selection of spectacle correction.
• Sunglasses.
• Headgear protecting from the sun.
  • Protection of skin from exposure to sunlight.
  • Genetic consultation.
  • Organization of the training system.