MIM 268 100]

(enhanced S-cones (blue cones) syndrome, early retinoschisis-hemeralopia syndrome)

Prevalence: < 1/106.  Autosomal recessive transmission of mutations of the NR2E3 (formerly PNR) gene (15q23), coding for a retinal nuclear receptor involved in photoreceptor differentiation. Vitreoretinal dystrophy characterized by early onset of night blindness, bilateral decrease in visual acuity and characteristic fundus abnormalities (progressive pigmentary degeneration, macular edema, retinoschisis).

Clinical presentation :

-         onset in childhood

-         progressive loss of visual acuity and night blindness. Peripheral vision may diminish

-         cataracts are a frequent complication

-         optic atrophy has been reported in a few cases. 

Vitreous degeneration may include the formation of microfilaments and cords, liquefaction and posterior detachment. The fundoscopic exam shows changes in the pigmentary ring (lumpy pigment deposits), central or peripheral retinoschisis and cystoid macular edema. Symptoms are generally bilateral or symmetrical. The electroretinogram is abnormal: rods and cones are reduced and may not be detectable. Patients may have a high sensitivity to blue light due to increased sensitivity of the S-cones.

Some forms of retinitis pigmentosa and Enhanced S-Cones Syndrome (ESCS) are caused by mutations of the NR2E3 gene.

Anesthetic implications: 

visual disturbances, eye protection, check for associated anomalies

References : 

-        Ikaheimo K, Tuppurainem K, Mantyjarvi M. 
Clinical features of Goldmann-Favre syndrome. 
Acta Ophthalmol Scand 1999 ; 77 : 459-61.

Updated: October 2023