Research & Literature

Identification of an NPHP1 deletion causing adult form of nephronophthisis.

Haghighi A, Savaj S, Haghighi-Kakhki H, et al.

Irish journal of medical science 2016; (185(3)):589-595 doi:10.1007/s11845-015-1312-7.

Clinical and genetic characteristics of Japanese nephronophthisis patients.

Sugimoto K, Miyazawa T, Enya T, et al.

Clinical and experimental nephrology 2016; (20(4)):637-649 doi:10.1007/s10157-015-1180-5.

Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.

Ronquillo CC, Hanke-Gogokhia C, Revelo MP, et al.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2016; (30(10)):3400-3412 doi:10.1096/fj.201600511R.

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Kang HG, Lee HK, Ahn YH, et al.

Experimental & molecular medicine 2016; (48()):e251 doi:10.1038/emm.2016.63.

[Diagnosis and management of chronic kidney disease in children: Guidelines of the French Society of Pediatric Nephrology].

Pietrement C, Allain-Launay E, Bacchetta J, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2016; (23(11)):1191-1200 doi:10.1016/j.arcped.2016.08.029.

Senior Loken Syndrome.

Kaur A, Dhir SK, Goyal G, et al.

Journal of clinical and diagnostic research : JCDR 2016; (10(11)):SD03-SD04 doi:10.7860/JCDR/2016/21832.8816.

Anemia in chronic kidney disease.

Atkinson MA, Warady BA

Pediatric nephrology (Berlin, Germany) 2018; (33(2)):227-238 doi:10.1007/s00467-017-3663-y.

Metabolic acidosis is common and associates with disease progression in children with chronic kidney disease.

Harambat J, Kunzmann K, Azukaitis K, et al.

Kidney international 2017; (92(6)):1507-1514 doi:10.1016/j.kint.2017.05.006.

Cataract surgery outcomes and complications in retinal dystrophy patients.

Davies EC, Pineda R

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2017; (52(6)):543-547 doi:10.1016/j.jcjo.2017.04.002.

Is Blood Pressure Improving in Children With Chronic Kidney Disease? A Period Analysis.

Barletta GM, Pierce C, Mitsnefes M, et al.

Hypertension (Dallas, Tex. : 1979) 2018; (71(3)):444-450 doi:10.1161/HYPERTENSIONAHA.117.09649.

Role of hypertension in progression of chronic kidney disease in children.

Vidi SR

Current opinion in pediatrics 2018; (30(2)):247-251 doi:10.1097/MOP.0000000000000595.

Estimating Time to ESRD in Children With CKD.

Furth SL, Pierce C, Hui WF, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2018; (71(6)):783-792 doi:10.1053/j.ajkd.2017.12.011.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

Stokman MF, van der Zwaag B, van de Kar NCAJ, et al.

Pediatric nephrology (Berlin, Germany) 2018; (33(10)):1701-1712 doi:10.1007/s00467-018-3958-7.

Renal Replacement Therapy in Children in Lithuania: Challenges, Trends, and Outcomes.

Viršilas E, Čerkauskienė R, Masalskienė J, et al.

Medicina (Kaunas, Lithuania) 2018; (54(5)) doi:10.3390/medicina54050078.

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Nuovo S, Fuiano L, Micalizzi A, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2020; (35(7)):1195-1202 doi:10.1093/ndt/gfy333.

Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome.

Katagiri S, Hayashi T, Yoshitake K, et al.

Scientific reports 2018; (8(1)):16733 doi:10.1038/s41598-018-35152-6.

Ciliopathy: Senior-Løken Syndrome.

Tsang SH, Aycinena ARP, Sharma T

Advances in experimental medicine and biology 2018; (1085()):175-178 doi:10.1007/978-3-319-95046-4_34.

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, et al.

Ophthalmology 2019; (126(8)):1181-1188 doi:10.1016/j.ophtha.2019.03.018.

Clinical practice recommendations for growth hormone treatment in children with chronic kidney disease.

Drube J, Wan M, Bonthuis M, et al.

Nature reviews. Nephrology 2019; (15(9)):577-589 doi:10.1038/s41581-019-0161-4.

Nephronophthisis type I, left ventricular non-compaction cardiomyopathy and reduced cilia motility-atypical manifestations of one disease.

Brndiarova M, Antonyova M, Dedinska I, et al.

Journal of nephrology 2020; (33(1)):183-186 doi:10.1007/s40620-019-00651-w.

The dietary management of calcium and phosphate in children with CKD stages 2-5 and on dialysis-clinical practice recommendation from the Pediatric Renal Nutrition Taskforce.

McAlister L, Pugh P, Greenbaum L, et al.

Pediatric nephrology (Berlin, Germany) 2020; (35(3)):501-518 doi:10.1007/s00467-019-04370-z.

Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies.

Rodríguez-Muñoz A, Aller E, Jaijo T, et al.

The Journal of molecular diagnostics : JMD 2020; (22(4)):532-543 doi:10.1016/j.jmoldx.2020.01.003.

Ciliary Genes in Renal Cystic Diseases.

Adamiok-Ostrowska A, Piekiełko-Witkowska A

Cells 2020; (9(4)) doi:10.3390/cells9040907.

Senior-Løken syndrome and intracranial hypertension.

Tay SA, Vincent AL

Ophthalmic genetics 2020; (41(4)):354-357 doi:10.1080/13816810.2020.1766086.

KDOQI Clinical Practice Guideline for Nutrition in CKD: 2020 Update.

Ikizler TA, Burrowes JD, Byham-Gray LD, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2020; (76(3 Suppl 1)):S1-S107 doi:10.1053/j.ajkd.2020.05.006.

Senior-Løken syndrome misdiagnosed as nephrosclerosis related to hypertensive disorders of pregnancy.

Hirai Y, Mizumoto A, Mitsumoto K, Uzu T

BMJ case reports 2020; (13(10)) doi:10.1136/bcr-2020-236137.

Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome.

Ning K, Song E, Sendayen BE, et al.

Molecular genetics & genomic medicine 2021; (9(1)):e1566 doi:10.1002/mgg3.1566.

SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.

Yahalom C, Volovelsky O, Macarov M, et al.

Retina (Philadelphia, Pa.) 2021; (41(10)):2179-2187 doi:10.1097/IAE.0000000000003138.

CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials.

Nguyen XT, Talib M, van Schooneveld MJ, et al.

American journal of ophthalmology 2022; (234()):37-48 doi:10.1016/j.ajo.2021.07.021.

Long-Term Outcomes of Kidney Transplant Recipients With Juvenile Nephronophthisis.

Avcı B, Baskın E, Gülleroğlu K, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2022; (20(Suppl 3)):122-125 doi:10.6002/ect.PediatricSymp2022.O39.

In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.

Kruczek K, Qu Z, Welby E, et al.

Stem cell reports 2022; (17(10)):2172-2186 doi:10.1016/j.stemcr.2022.08.006.

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

König JC, Karsay R, Gerß J, et al.

Kidney international reports 2022; (7(9)):2016-2028 doi:10.1016/j.ekir.2022.05.035.

NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?

Mehawej C, Chouery E, Ghabril R, et al.

Nephron 2023; (147(3-4)):229-233 doi:10.1159/000526841.

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.

Zhu T, Shen Y, Sun Z, et al.

American journal of ophthalmology 2023; (248()):96-106 doi:10.1016/j.ajo.2022.11.023.

Diagnosis and management of mineral and bone disorders in infants with CKD: clinical practice points from the ESPN CKD-MBD and Dialysis working groups and the Pediatric Renal Nutrition Taskforce.

Bacchetta J, Schmitt CP, Bakkaloglu SA, et al.

Pediatric nephrology (Berlin, Germany) 2023; (38(9)):3163-3181 doi:10.1007/s00467-022-05825-6.

A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.

Liu Y, Qiu T, Chen Z, et al.

Transplant immunology 2023; (78()):101828 doi:10.1016/j.trim.2023.101828.

Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.

Wang J, Li S, Jiang Y, et al.

American journal of ophthalmology 2023; (252()):188-204 doi:10.1016/j.ajo.2023.03.025.

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).

Leggatt G, Cheng G, Narain S, et al.

Scientific reports 2023; (13(1)):9369 doi:10.1038/s41598-023-32169-4.

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.

Murro V, Banfi S, Testa F, et al.

Orphanet journal of rare diseases 2023; (18(1)):223 doi:10.1186/s13023-023-02798-z.

[Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations].

Zhao X, Jiang LJ, Rong ZH, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2023; (25(8)):831-836 doi:10.7499/j.issn.1008-8830.2303020.

Nephronophthisis: a pathological and genetic perspective.

Wolf MTF, Bonsib SM, Larsen CP, Hildebrandt F

Pediatric nephrology (Berlin, Germany) 2024; (39(7)):1977-2000 doi:10.1007/s00467-023-06174-8.

Protocol for the treatment of cystoid macular edema secondary to retinitis pigmentosa and other inherited retinal dystrophies.

Català-Mora J, Santamaría Álvarez JF, Kyriakou D, et al.

Archivos de la Sociedad Espanola de Oftalmologia 2024; (99(2)):67-81 doi:10.1016/j.oftale.2023.11.001.

Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant.

Ajiboye O, Vengoechea JE, Gupta R, Lomashvili K

The American journal of case reports 2023; (24()):e941413 doi:10.12659/AJCR.941413.

Presumed uremic optic neuropathy in a patient with Senior-Loken syndrome.

Khan AO

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2023; (37(4)):310-312 doi:10.4103/sjopt.sjopt_140_23.

Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.

Tang X, Yi S, Qin Z, et al.

Heliyon 2024; (10(1)):e23257 doi:10.1016/j.heliyon.2023.e23257.

Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.

Esson G, Logan I, Wood K, et al.

Journal of rare diseases (Berlin, Germany) 2024; (3(1)):7 doi:10.1007/s44162-024-00031-4.

Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.

Fernández-Suárez E, González-Del Pozo M, Méndez-Vidal C, et al.

Mobile DNA 2024; (15(1)):9 doi:10.1186/s13100-024-00320-1.

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

Surl D, Won D, Lee ST, et al.

JAMA network open 2024; (7(5)):e2414198 doi:10.1001/jamanetworkopen.2024.14198.

Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.

Machado T, Cortinhal T, Carvalho AL, et al.

Orphanet journal of rare diseases 2025; (20(1)):22 doi:10.1186/s13023-025-03542-5.

Expanding the Clinical Spectrum of CRB1-Retinopathies: A Novel Genotype-Phenotype Correlation with Macular Dystrophy and Elevated Intraocular Pressure.

Rodriguez-Martinez AC, Marmoy OR, Prise KL, et al.

International journal of molecular sciences 2025; (26(7)) doi:10.3390/ijms26072836.

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

de Bruijn SE, van den Born LI, Derks R, et al.

NPJ genomic medicine 2025; (10(1)):33.

Nonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations.

Kikani BA, Ueberroth JA, Christensen CA, Breazzano MP

Ophthalmic surgery, lasers & imaging retina 2025; (56(8)):506-509 doi:10.3928/23258160-20250513-01.

Nephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman.

Matsuo T, Onishi Y, Morinaga H, et al.

Journal of medical cases 2025; (16(5)):164-173 doi:10.14740/jmc4356.

Clinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea.

Song JR, Jung S, Joo K, et al.

Genes 2025; (16(7)) doi:10.3390/genes16070835.

Pilot pragmatic clinical trial of iron therapy in children with anemia of chronic kidney disease (FeTCh-CKD).

Baqai K, Hootman K, Noziere A, et al.

Pediatric nephrology (Berlin, Germany) 2026; (41(2)):465-473 doi:10.1007/s00467-025-06903-1.

Ciliopathy: Senior-Løken Syndrome.

Tsang SH, Aycinena ARP, Sharma T

Advances in experimental medicine and biology 2025; (1467()):189-191 doi:10.1007/978-3-031-72230-1_34.

When Nonspecific Symptoms Conceal Kidney Disease: A Case Report on Recognizing Juvenile Nephronophthisis in Pediatric Practice.

Shah A, Shah A, Lemaire M, et al.

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2026; (40(3)):424-429 doi:10.1016/j.pedhc.2025.08.004.

Characterising PRPF31-associated retinal dystrophy: Clinical insights from baseline data in a natural history study.

Eriksen KO, Eidet JR, Kjellström U, et al.

Acta ophthalmologica 2026; (104(3)):e317-e328 doi:10.1111/aos.70005.

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.

Demirtas İ, Bek SG

Journal of medical case reports 2025; (19(1)):624 doi:10.1186/s13256-025-05655-8.

Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome.

Li M, Li S, Cao Y, et al.

Journal of clinical medicine 2026; (15(5)) doi:10.3390/jcm15052060.

Ten tips on how to optimize nutrition in children with chronic kidney disease or on dialysis.

Polderman N, Shaw V, Anderson CE, et al.

Clinical kidney journal 2026; (19(4)):sfag046 doi:10.1093/ckj/sfag046.