Retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Proteinuria

Increased levels of protein in the urine.


Total: 1

                       


(per page)
PMID (PMCID)
27618137
(5066368)
 FEMALE Middle Aged
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.
Ng YS, Hardy SA, Shrier V, Quaghebeur G, Mole DR, Daniels MJ, Downes SM, Freebody J, Fratter C, Hofer M, Nemeth AH, Poulton J, Taylor RW.
Neuromuscul Disord. 2016;26(10):702-705.
Subsequent multi-system manifestations included basal ganglia calcification, proteinuria, cataract and retinitis pigmentosa, prompting a repeat muscle biopsy that showed features consistent with mitochondrial myopathy 13 years later.