Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.
PMID 24698627 | DOI 10.1016/j.jaapos.2013.11.016 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2014 · View on PubMed ↗
Early-onset severe retinal dystrophy can be isolated (Leber congenital amaurosis) or the first sign of an underlying systemic ciliopathy, such as Bardet-Biedl syndrome. Early recognition of those children with underlying systemic ciliopathy minimizes morbidity and mortality from later extraocular manifestations, the most common of which is renal disease. We report 2 unrelated children who presented with early-onset severe retinal dystrophy in the context of hypotonia, developmental delay, and a noticeably happy demeanor. Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IFT140 | “Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Leber congenital amaurosis | “Early-onset severe retinal dystrophy can be isolated (Leber congenital amaurosis) or the first sign of an underlying systemic ciliopathy, such as Bardet-Biedl syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Bardet-Biedl syndrome | “Early-onset severe retinal dystrophy can be isolated (Leber congenital amaurosis) or the first sign of an underlying systemic ciliopathy, such as Bardet-Biedl syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “We report 2 unrelated children who presented with early-onset severe retinal dystrophy in the context of hypotonia, developmental delay, and a noticeably happy demeanor.” | 0.98 | phenotype_alias_lexicon_v2 |