NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy
| Autor: | Philipp Herrmann, Hanno J. Bolz, Mareike Dahmer-Heath, Peter Charbel Issa, Georg Spital, Johannes Birtel, Sandra Habbig, Bodo B. Beck, Marius Book, Jens König, Vera Riehmer, David Rosenkranz, Sören Bäumner |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Retinal degeneration medicine.medical_specialty Visual acuity genetic structures 030232 urology & nephrology 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Retinal Diseases Nephronophthisis Ophthalmology Night vision Electroretinography Medicine Humans Fluorescein Angiography Retinal thinning Adaptor Proteins Signal Transducing medicine.diagnostic_test business.industry Retinal Kidney Diseases Cystic medicine.disease eye diseases Cytoskeletal Proteins 030104 developmental biology chemistry Nephrology sense organs medicine.symptom Visual Fields business Tomography Optical Coherence Retinopathy |
| Zdroj: | Kidney international. 100(5) |
| ISSN: | 1523-1755 |
| Popis: | Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney disease. Nephrocystin 1, the gene product of NPHP1, is also expressed in photoreceptors where it plays an important role in intra-flagellar transport between the inner and outer segments. However, the human retinal phenotype has never been investigated in detail. Here, we characterized retinal features of 16 patients with homozygous deletions of the entire NPHP1 gene. Retinal assessment included multimodal imaging (optical coherence tomography, fundus autofluorescence) and visual function testing (visual acuity, full-field electroretinography, color vision, visual field). Fifteen patients had a mild retinal phenotype that predominantly affected cones, but with relative sparing of the fovea. Despite a predominant cone dysfunction, night vision problems were an early symptom in some cases. The consistent retinal phenotype on optical coherence tomography images included reduced reflectivity and often a granular appearance of the ellipsoid zone, fading or loss of the interdigitation zone, and mild outer retinal thinning. However, there were usually no obvious structural changes visible upon clinical examination and fundus autofluorescence imaging (occult retinopathy). More advanced retinal degeneration might occur with ageing. An identified additional CEP290 variant in one patient with a more severe retinal degeneration may indicate a potential role for genetic modifiers, although this requires further investigation. Thus, diagnostic awareness about this distinct retinal phenotype has implications for the differential diagnosis of nephronophthisis and for individual prognosis of visual function. |
| Databáze: | OpenAIRE |
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