Pigmentary Retinopathy in Systemic Inherited Disease

Le résumé fourni par la source

Abstract Pigmentary retinopathy represents the ocular manifestation and final common outcome of a number of metabolic and neurodegenerative diseases. The evaluation of patients with pigmentary retinopathy poses a unique challenge, especially in the pediatric population, as the same fundus picture may represent a primary ocular process, a harbinger of neurologic degeneration, a remote effect of cancer, or just one feature in a constellation of signs comprising a genetic syndrome. Systematic clinical and family history, combined with complete analytical and genetic testing allows the establishment of a clinical and molecular diagnosis. Moreover, early diagnosis is of the utmost importance as it may allow early intervention. This chapter includes some of the systemic diseases and genetic syndromes associated with secondary pigmentary retinopathy.

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