[MIM 310 600]

(Episkopi blindness, Norrie-Warburg disease)

Very rare (< 1/1.106). Hereditary vitreo-retinal dysplasia . X-linked transmission of a mutation of the NDP gene (Xp11.4) coding for norrine,the ligand of the FZD4 receptor. It is the most severe form  of retinopathy associated with the NDP gene such as Coats disease or familial exudative X-linked vitreoretinopathy.

First signs: bilateral leukocoria (abnormal white reflection from the retina of the eye) caused by a  greyish-yellow - mass (sometimes called immature retinal pseudoglioma) located behind the lens. Subsequently: glaucoma, cataract, iris hypoplasia and finally phthisis bulbi (shrinking of the globe).

Rapid evolution towards eyeball atrophy and blindness. Psychomotor retardation and/or behavioural disorders are common. Other systemic abnormalities are sometimes associated at the cardiac, pulmonary, urogenital, gastrointestinal or skeletal level.

In 30% of cases, sensorineural hearing loss (cochlea) appears around the age of 20-30 years.

Anesthetic implications:

blindness and mental retardation; check for associated anomalies.

References : 

Updated: November 2018