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Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy

Arif O Khan1, Hanno J Bolz2, Carsten Bergmann3

  • 1Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|April 5, 2014
PubMed

Insights

Early-onset severe retinal dystrophy can signal systemic ciliopathies. Identifying mutations in IFT140 in two children highlights its role in retinal and systemic disease, aiding early diagnosis and management.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Early-onset severe retinal dystrophy necessitates distinguishing isolated forms from syndromic ciliopathies.
  • Systemic ciliopathies, like Bardet-Biedl syndrome, require early identification to prevent severe extraocular complications, particularly renal disease.

Observation:

  • Two unrelated children presented with severe early-onset retinal dystrophy.
  • Clinical features included hypotonia, developmental delay, and a distinct happy demeanor.

Findings:

  • Genetic analysis identified recessive mutations in IFT140 in both patients.
  • IFT140 is a cilium gene previously linked to the skeletal ciliopathy, conorenal syndrome.

Implications:

  • This finding expands the phenotypic spectrum associated with IFT140 mutations.
  • Early diagnosis of IFT140-related ciliopathy is crucial for managing systemic manifestations, especially renal disease.

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