Retinitis pigmentosa and erythrocytic microcytosis

Retinitis pigmentosa and erythrocytic microcytosis is an autosomal recessive disorder caused by mutations of the TRNT1 gene. In addition to degeneration of cone photoreceoptor cells this form has the feature of erythrocytic microcytosis. The transition to SIFD syndrome which is caused by mutations in the same gene is fluid.

Systematic

Retinitis pigmentosa
	Retinitis pigmentosa 17
	Retinitis pigmentosa 23
	Retinitis pigmentosa and erythrocytic microcytosis
		TRNT1

References:

1.	DeLuca AP et. al. (2016) Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.