[Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know].

Abstract excerpt

Hereditary eye disorders can affect all ocular structures and can be accompanied by structural malformations (e.g. coloboma) or functional disorders (e.g. retinal dystrophy). Ocular phenotypes can also be the presenting symptom of many complex syndromic disorders. The majority of hereditary eye disorders are extremely heterogeneous but can be routinely diagnosed by modern high-throughput sequencing technologies....

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