Retinal Dystrophy With Or Without Extraocular Anomalies

Clinical Characteristics
Ocular Features: 

Progressive deterioration of rod and cone function is characteristic of this condition which is clinically manifest as some variation of pigmentary retinopathy.  Early (second decade) pigmentary changes resemble retinitis pigmentosa but in the fourth and fifth decades they resemble a peripheral pattern-like reticular dystrophy.  Central chorioretinal atrophy has been described in some patients.  The ERG responses are abnormal suggesting loss of the photoreceptors.

Systemic Features: 

Extraocular anomalies are highly variable ranging from a mild intellectual disability in some patients, to thyroid goiter and nodules, and primary ovarian insufficiency.  Sensorineural hearing loss was present in one family and one patient had pulmonary fibrosis.

Genetics

Homozygous missense mutations in the RCBTB1 gene (13q14) seem to be responsible for this condition.  Six families have been reported.

Treatment
Treatment Options: 

No treatment has been reported.

References
Article Title: 

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. 2016 Aug 4;99(2):470-80.

PubMed ID: 
27486781

References

Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. 2016 Aug 4;99(2):470-80.

PubMedID: 27486781