Article
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
Orphanet journal of rare diseases - 31 Jul 2023
Murro Vittoria, Banfi Sandro, Testa Francesco, Iarossi Giancarlo, Falsini Benedetto, Sodi Andrea, Signorini Sabrina, Iolascon Achille, Russo Roberta, Mucciolo Dario Pasquale, Caputo Roberto, Bacci Giacomo Maria, Bargiacchi Sara, Turco Simona, Fortini Stefania, Simonelli Francesca
Abstract excerpt
BACKGROUND: Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impacts as a result of vision impairment or blindness. IRDs are highly heterogeneous, with often overlapping symptoms among different IRDs, and achieving a definite diagnosis is challenging. This...
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