Inherited eye diseases

Many eye diseases have a genetic basis and – like genetic hearing impairment – display extensive genetic heterogeneity, that is, many genes are known whose mutations cause the disease. This particularly applies to retinal degeneration (synonymously referred to as retinal dystrophies, retinopathies): Mutations in more than 200 genes account for non-syndromic (Leber congenital amaurosis, LCA; retinitis pigmentosa, RP; cone-(rod) dystrophy, CD/CRD; macular dystrophy, MD; congenital stationary nightblindness, CSNB) and various syndromes involving the retina. Furthermore, many genes are associated with congenital nystagmus, cataract, ocular (-cutaneous) albinism, retinal detachment, optical atrophy, anophthalmia and microphthalmia and other defects of eye development.

The knowledge of the underlying gene defect has far-reaching consequences for the individual medical care and guidance of patients and their families. It may not only confirm the genetic diagnosis and hence inform about the recurrence risk in the family. It becomes apparent that certain eye disease – as is already the case for RPE65-related retinal dystrophy – may be accessible to (gene) therapy approaches that specifically target the respective gene or its mutation.

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Further special expertise

Hereditary Cancers

Familial clustering of cancers may indicate that hereditary factors play an important role for cancer development in such families. Genetic counselling and molecular genetic diagnostics may enable targeted preventive screening measures and might be important for individual treatment in some tumour entities.

Further reading

Deafness

Hearing loss is the most common sensory deficit in humans, affecting approximately 1 in 500 newborns. Deafness has a genetic basis in two-thirds of patients.

Further reading

Disorders of the nervous system

Numerous disorders of the nervous system may be due to genetic causes and they may be part of a syndrome affecting other organs. A genetic diagnosis may avoid stressful examinations and pave the way for an anticipatory disease management or even therapeutic options.

Further reading

Malignant hyperthermia

Malignant hyperthermia (MH) is a hereditary metabolic myopathy triggered by certain anaesthetics. The molecular genetic testing in patients with suspected MH and the predictive genetic testing of at-risk asymptomatic family members enables an accurate diagnosis with just a blood sample.

Further reading