Albinism in children: causes, symptoms, diagnosis, treatment

Albinism is a disorder in which there is a pathology of pigment cells, which is especially clearly reflected in the condition 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. Ocular albinism (OA):
   • X-linked ocular albinism;
   • autosomal recessive ocular albinism (AROA).
2. Oculocutaneous albinism (OCA):
   • Oculocutaneous albinism 1 - with tyrosinase deficiency;
   • Oculocutaneous albinism 2 - with normal tyrosinase levels;
   • Oculocutaneous albinism 3;
   • autosomal dominant OCA (ADHCA).

Albinism can be observed in combination with other systemic diseases.

All forms of albinism have common features:

1. Decreased visual acuity and contrast sensitivity:
   • pathological pigmentation of the fundus;
   • foveal hypoplasia (Fig. 13.1);
   • nystagmus;
   • refractive errors;
   • amblyopia;
   • other factors.
2. Nystagmus. May appear already in the first months of a child's life and, as a rule, has a pendulum-like or mixed form.
3. Strabismus:
   • converging;
   • divergent;
   • with residual binocular functions.
4. Translucency of the iris. The color of the iris changes within the widest range. There are both mild forms of the disorder, in which the brown or blue color of the iris is preserved, and pronounced changes, up to the appearance of a pink or bluish-pink color of the iris, with a significant decrease in pigmentation.
5. Photophobia. Occurs due to excessive light shining into the eye through the translucent iris. This fact explains the increase in wave B on the electroretinogram (ERG) in some patients.
6. Neurophysiological disorders. Almost all albinos have disturbances of crossing of nerve fibers in the chiasm, which is expressed in the predominance of crossing nerve fibers over non-crossing ones. It is this fact that explains the pathological changes in visual evoked potentials (VEP).
7. Delayed development of the visual system. Children under 1 year of age with albinism often have visual acuity below the age norm.

[ 1 ], [ 2 ], [ 3 ]

Ocular albinism

These patients usually have an X-linked recessive form of the disease, and their mothers often have transillumination of the iris and redistribution of pigment in the periphery of the retina. In some cases, the disease is inherited in an autosomal recessive manner. Ocular albinism usually manifests itself as decreased visual acuity, nystagmus, transillumination of the iris, foveola hypoplasia, and retinal pigment epithelium abnormalities. Sometimes, changes in the visual organ are accompanied by hypopigmentation of the skin.

Oculocutaneous albinism

Oculocutaneous albinism is a tyrosine-negative form of the disease and is characterized by a pink iris, steel-white hair, and decreased visual acuity, which is usually no more than 6/36 (0.16). The disease is usually inherited in an autosomal recessive manner.

[ 4 ], [ 5 ]

Other forms of albinism

Forms of the disease affecting the visual organ and skin, with pigmentation of the eyeball, skin and hair being expressed to a greater extent than in GCA 1. Autosomal dominant inheritance is possible.

Albinism and Common Diseases

1. Chediak-Higashi syndrome:
   • partial GCA;
   • susceptibility to infections;
   • hemorrhagic diathesis;
   • hepatosplenomegaly;
   • neuropathies;
   • inclusions of giant cytoplasmic formations in leukocytes;
   • inheritance is autosomal recessive.
2. Hermansky-Pudlak syndrome:
   • partial oculocutaneous albinism;
   • tendency to hemorrhage associated with platelet aggregation disorder;
   • pulmonary fibrosis.
3. Other:
   • Cross syndrome;
   • Albinism combined with short stature.

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

Diagnosis of albinism

The diagnosis is based on a combination of clinical symptoms, neurophysiological changes, and the results of examination of relatives. The study of tyrosinase content in hair follicles reveals qualitative characteristics of tyrosinase only in patients over 5 years of age. In clinical practice, this test is rarely used. Patients in whom tyrosinase cannot be detected usually suffer from OCA 1 and are classified as tyrosine-negative patients. Most other patients with albinism are classified as tyrosine-positive patients.

[ 10 ], [ 11 ], [ 12 ]

Tactics of managing patients with albinism

• Refraction examination and selection of glasses correction.
• Sunglasses.
• Headgear that protects from the sun.
  • Protecting the skin from exposure to sunlight.
  • Genetic consultation.
  • Organization of the training system.