retinitis pigmentosa type 58

retinitis pigmentosa type 58

A retinal dystrophy (OMIM:613617) belonging to pigmentary retinopathy family, which is characterised by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells, followed by secondary loss of cone photoreceptors. Patients typically have night blindness and loss of midperipheral visual field which, with disease progression, evolves to loss of far peripheral vision and eventually central vision.

Molecular pathology
Defects of ZNF513, which encodes a zinc finger transcription regulator involved in retinal development, cause retinitis pigmentosa type 58.
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