salt and pepper pigmentation

Retinitis Pigmentosa 76

Clinical Characteristics
Ocular Features: 

Onset of night blindness occurs early in the second decade of life.  Vision is in the range of 20/40 to 20/100 in the first decades worsens slowly but there is a wide range.  Some older individuals may have hand motion vision in at least one eye but some retain 20/40.  All patients have peripheral field restrictions and some have pallor of the optic disc.  Retinal vessels are attenuated.  Fundus pigmentation is usually abnormal with some combination of bone spicule and diffuse salt and pepper pigmentation.  The macula is usually involved with a flat fovea, cystoid macular edema, and chorioretinal atrophy.

Retinal thinning is seen on OCT.  The ERG can be flat but in some individuals the rod responses are primarily reduced.

Systemic Features: 

No systemic abnormalities have been associated.


Homozygous or compound heterozygous mutations in the POMGNT1 gene (1p34) are responsible for this disorder.

Autosomal recessive
Treatment Options: 

No effective treeatment is available.

Article Title: 

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 Apr 15;25(8):1479-88.

PubMed ID: 
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