Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

RDH11

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins

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A number sign (#) is used with this entry because of evidence that retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) is caused by compound heterozygous mutation in the RDH11 gene (607849) on chromosome 14q24. One such family has been reported.

Clinical Features

Xie et al. (2014) studied a family of Italian American descent in which a sister and 2 brothers, aged 19, 17, and 8 years, respectively, had psychomotor delays from early childhood, including lack of fine motor skills and coordination and learning difficulties requiring special education programs. All 3 exhibited facial dysmorphism, with prominent alae nasi and slightly upslanting palpebral fissures; 2 of them also had malar hypoplasia, and 2 had attached earlobes. Excessive dental spacing and malocclusion were corrected by orthodontics. Short stature was present in all 3 sibs, with the older 2 sibs below the fifth percentile for age and gender, and the youngest sib just above the fifth percentile. There was progressive decrease in visual acuity and reported difficulties with night vision in the first decade of life, as well as development of juvenile cataracts for which the patients underwent surgery soon after diagnosis. Fundus examination revealed features characteristic of retinitis pigmentosa (RP), including bilateral attenuation and narrowing of retinal arterioles, salt-and-pepper retinopathy, and generalized rod-cone dysfunction; however, features atypical for RP were also observed, such as mottled macula at an early age and peripapillary sparing of retinal pigment epithelium.

Molecular Genetics

In 3 sibs from an Italian American family with retinal dystrophy, juvenile cataracts, and short stature syndrome, Xie et al. (2014) identified compound heterozygosity for nonsense mutations in the RDH11 gene (R67X, 607849.0001; R108X, 607849.0002). Their unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in the 1000 Genomes or Exome Sequencing Project databases or in 3,996 control exomes of the Baylor Genome Center's ARIC database.