Description

A number of inherited retinal dystrophies need to be considered in the differential diagnosis of non-syndromic retinitis pigmentosa.


Classes of inherited retinal dystrophies:

(1) progressive retinal disease

(2) stationary retinal disease

(3) inherited vitreoretinopathies

(4) chorioretinal dystrophies

(5) female carriers of inherited retinal dystrophies

 

Progressive retinal disease:

(1) cone-rod dystrophy

(2) cone dystrophy

(3) Leber congenital amaurosis

(4) Bietti crystalline corneoretinal dystrophy

(5) late-onset retinal degeneration

(6) macular dystrophy (Sorsby fundus dystrophy, Stargardt disease)

 

Stationary retinal disease:

(1) congenital stationary night blindness (CSNB; Oguchi disease, fundus albipunctatus)

 

Inherited vitreoretinopathies:

(1) X-linked juvenile retinoschisis

(2) enhanced S-cone syndrome

(3) Wagner syndrome (erosive vitreoretinopathy)

(4) snowflake vitreoretinopathy

 

Chorioretinal dystrophies:

(1) choroideremia

(2) gyrate atrophy

(3) helicoid peripapillary chorioretinal degeneration (Sveinsson chorioretinal atrophy)

(4) progressive bifocal chorioretinal atrophy

 

Female carriers of inherited retinal dystrophies:

(1) choroideremia

(2) ocular albinism


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