RDH11

Retinal Dystrophy, Cataracts, and Short Stature

Clinical Characteristics
Ocular Features: 

Patients develop progressive night vision problems in the first decade of life.  However, central acuity remains in the 20/20 to 20/30 range at least through the second decade.  Cataracts are noted during this time period as well.  Visual field constriction is present.

Pigmentary retinopathy is present, especially in the posterior poles.  Macular mottling is evident at an early age with attenuation and narrowing of the retinal arterioles.  The pigmentary changes are salt-and-pepper in appearance but there are also areas of RPE atrophy with relative sparing of the fovea.  Pigment clumping in the shape of bone spicules has been observed in the periphery.  Full field ERGs show generalized rod-cone dysfunction with scotopic function more affected.  OCT examination reveals a disruption of the outer retinal layers from the parafoveal region into the periphery.

Systemic Features: 

Early childhood psychomotor delays are evident in early childhood by the lack of fine motor and coordination skills along with learning difficulties.  Patients have facial dysmorphism with hypoplasia of the ala nasae, upslanting palpebral fissures, and malar hypoplasia.  The teeth are widely spaced and there is malocclusion.  Short stature is characteristic (fifth percentile).

Genetics

This disorder results from homozygosity of mutations in the RDH11 gene (14q24) encoding retinol dehydrogenase 11.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment is available for this condition but patients may benefit from correction of the malocclusion, special education classes, cataract removal, and low vision aids.  Physical therapy may also be helpful.

References
Article Title: 

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.

Genetics

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.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

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

References
Article Title: 
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