Clinical and genetic aspects of isolated hereditary cataracts
Kadyshev V.V.^1, Zinchenko R.A.^1,2, Kutsev S.I.<sup>1,2

1</sup> Research Centre for Medical Genetics, Moscow
² Russian National Research Medical University named after N.I. Pirogov, Moscow

Hereditary diseases in ophthalmology account for at least 30% of cases among the whole structure of ophthalmopathology. One of the most common nosological units is hereditary cataract. Using the diagnostic algorithm the ophthalmologist takes into account the results of a complex clinico-laboratory and highly specialized paraclinical examination, however, when the diagnosis is made, the etiological factor of the disease is rarely taken into account. Molecular genetic studies make it possible to establish true cause and pathogenesis of the pathological process of hereditary diseases. Isolated congenital cataract is a group of diseases caused by the severe clinical polymorphism and genetic heterogeneity. These signs are the main reasons for the difficulties of diagnosing clinical-genetic form of the disease. According to literary data there are more than 50 genetic forms isolated hereditary cataracts. Clinical-diagnostic algorithm in patients with this pathology is complete only if there is medical genetic counseling of families by geneticists taking into account the received ophthalmological examinations and molecular genetic studies. Taking into account the verification of the etiological component of the pathological process, it becomes possible to plan correctly the preventive and curative measures. Currently, the main treatment for cataracts, is surgical. The functional state of the organ of vision, the prognosis of treatment, the stage of the pathological process and the somatic state of the patient determine the correction of therapeutic measures and in some cases contributes to the cancellation of surgical measures in cataracts. In such cases, the patient needs a conservative therapy. Currently, opacities of the lens are subjected to conservative curative schemes with the administration of drugs with metabolic effects in the form of eye drops.The pharmaceutical market is represented by a relatively small range of drugs of this group. Pirenoxine 75 mg in the form of eye drops (Catalin) is one of the known drugs used in ophthalmology practice in more than 12 countries. Catalin is applicable in the age-dependent cataract of mild or moderate degree of turbidity of the lens masses.

Keywords: cataract, hereditary diseases, medical genetics, clinical polymorphism, heterogeneity, prevention, treatment, pirenoxin.
For citation: Kadyshev V.V., Zinchenko R.A., Kutsev S.I. Clinical and genetic aspects of isolated hereditary cataracts // RMJ. Clinical ophthalmology. 2017. № 2. P. 114–118.