[MIM 248 200, 600 110, 603 786]

(Juvenile macular degeneration)

Incidence: 1/10,000. The most common form of hereditary dystrophies of the macula. Autosomal recessive or dominant transmission. Leads to a progressive  loss of bilateral vision associated with specific retinal lesions: round or fishlike yellow spots around the macula (fundus flamimaculatus). There are three types:

-        STGD1: ABCA4 gene on 1p22.1-p13 or CNGB3 gene on 8q21.3 

-        STGD3: ELOVVL4 gene on 6q14 

-        STGD4: PROM1 gene on chromosome 4

Onset between the age of 7 and 12 years; the evolution is rapidly progressive with photophobia, paracentral scotoma and loss of color vision but part of the peripheral vision is preserved .

Anesthetic implications:

management of visually impaired child

References : 

Updated: September 2018