Senior-Loken Syndrome Latest Advances

Ciliopathy: Senior-Løken Syndrome.

Journal: Advances in experimental medicine and biology

Published: July 30, 2025

Leber Congenital Amaurosis.

Journal: Advances in experimental medicine and biology

Published: July 30, 2025

Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.

Journal: Biomolecules

Published: March 20, 2025

Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.

Journal: American journal of medical genetics. Part A

Published: April 21, 2024

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

Journal: American journal of ophthalmology

Published: December 13, 2022

Potpourri of retinopathies in rare eye disease - A case series.

Journal: Indian journal of ophthalmology

Published: July 06, 2022

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

Journal: Retina (Philadelphia, Pa.)

Published: January 29, 2021

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

Journal: BMJ case reports

Published: October 28, 2020

Senior-Loken syndrome secondary to IQCB1 mutation in association with retinitis pigmentosa.

Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

Published: October 14, 2020

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

Journal: Molecular genetics & genomic medicine

Published: September 11, 2020

Hepatic, pancreatic and renal manifestations of a ciliopathy.

Journal: Hepatobiliary & pancreatic diseases international : HBPD INT

Published: September 07, 2020

Senior-Løken syndrome and intracranial hypertension.

Journal: Ophthalmic genetics

Published: May 21, 2020