juvenile cataracts

Cataracts 43

Clinical Characteristics
Ocular Features: 

Cataracts apparently are diagnosed at variable ages but likely have a juvenile or earlier age of onset.  One patient in the Danish multigenerational family was diagnosed at age 18 years but was not operated upon until age 45.  The lens opacities in this individual were located centrally and in the posterior subcapsular region.  Virtually no clinical information is available since other patients in this family had previously had cataract surgery and the lens phenotype could not be determined.  No other ocular abnormalities were reported.   

Systemic Features: 

No systemic abnormalities have been reported.

Genetics

A single Danish family with 9 affected members in 3 generations has been reported.  Heterozygous mutations in UNC45B gene (17q12) are most likely responsible but other candidate genes have not been completely ruled out.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Cataract surgery may be required.

References
Article Title: 

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: 
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