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IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History
Sagnik Sen1, Lorenzo Fabozzi2, Kaoru Fujinami3
1Moorfields Eye Hospital (S.S, L.F., K.F., G.W., A.W., O.M., A.R., M.G., M.MM), London, United Kingdom; UCL Institute of Ophthalmology (S.S., K.F., Y.F.-K., A.W., O.M., A.R., M.G., M.M.), University College London, London, United Kingdom.
American Journal of Ophthalmology
|March 24, 2024
Summary
IQCB1-retinopathy causes severe, early-onset vision loss and cone-rod dystrophy. Despite poor retinal function, retinal structure is often preserved, suggesting potential for gene therapy.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- IQCB1 gene variants are associated with retinopathy.
- Understanding the clinical and genetic spectrum of IQCB1-retinopathy is crucial for diagnosis and management.
Purpose of the Study:
- To characterize the clinical and genetic features of retinopathy linked to IQCB1 variants.
- To explore the natural history of IQCB1-retinopathy in pediatric and adult patients.
Main Methods:
- Retrospective cohort study at a single tertiary care center.
- Recruited 19 patients with IQCB1 variants and retinopathy.
- Collected data on demographics, visual acuity, fundus appearance, OCT, ERG, and molecular genetics.
Main Results:
- IQCB1-retinopathy presents as severe early-onset cone-rod dystrophy.
- Vision loss varied, with some patients maintaining good visual acuity while others had severe impairment.
- Optical coherence tomography (OCT) showed ellipsoid zone disruption with foveal sparing in most patients.
- Electroretinography (ERG) indicated severe cone-rod dysfunction.
- 17 loss-of-function IQCB1 variants were identified.
Conclusions:
- IQCB1-retinopathy is a severe, early-onset cone-rod dystrophy.
- The preservation of retinal structure despite functional decline suggests IQCB1-retinopathy as a candidate for gene therapy.
