Retinitis Pigmentosa, RDH11 Syndrome

Clinical Characteristics
Ocular Features: 

Night vision problems and cataracts may be noted late in the first decade of life.  The fundus has changes typical of retinitis pigmentosa such as a salt-and-pepper retinopathy and narrowing of the arterioles with relative sparing of the fovea.  Confluent bone-spicule pigmentation is present in the periphery.  The optic nerve may have a pinkish waxy appearance.  Best-corrected visual acuity early is in the 20/25-20/30 range early in life with progressive deterioration.  Full field ERGs and visual fields are consistent with retinitis pigmentosa with the scotopic system more severely affected than the photopic.

Systemic Features: 

Developmental delays and cognitive deficits are apparent in early childhood.  Diastema and malocclusion may be present.  Short stature (5th percentile) is characteristic along with facial dysmorphology consisting of hypoplasia of the alae nasae, malar hypoplasia and slight up slanting of the palpebral fissures.


A single family with three affected sibs (2 boys and one girl) has been reported.  The parents were phenotypically normal consistent with autosomal recessive inheritance.  Two variants in the RDH11 (14q24.1) gene were identified in the (compound heterozygous) siblings as responsible for a truncated, inactive enzyme.

Treatment Options: 

No treatment information is available.  Patients may benefit from special education, low vision aids, and physical therapy.Cataract surgery may be indicated.

Article Title: 


Xie YA, Lee W, Cai C, Gambin T, Noupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 Jun 10. [Epub ahead of print].

PubMedID: 24916380