Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences.

Background 5.2% of people are carriers for at least two recessive diseases; it can be concluded that a much smaller proportion develop these conditions as two mutated copies of a gene must be present for the disease to manifest clinically. Case presentation We present a 38-year-old Caucasian female affected by two autosomal recessive disorders which can affect the eyes, pseudoxanthoma elasticum (PXE) and retinitis pigmentosa (RP).

Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.

The primary cilium is an organelle which plays an important role in the transduction of signals in the Wnt and Sonic hedgehog pathways. Abnormal or absent primary cilia result in various neurodevelopmental, retinal, renal, hepatic and musculoskeletal abnormalities. Joubert syndrome (JS) is a ciliopathy with a prevalence estimated to be between 1:80 000 and 1:100 000.