Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report

Our observations on this patient and some relationships between hamartoma and ciliopathies other than eye may potentially suggest a possible association between Jeune syndrome and retinal astrocytoma in the context of IFT74-related ciliopathies.

Authors

Institutions

Publication Details

Journal
Ophthalmic Genetics
Published
2025-08-12
DOI
https://doi.org/10.1080/13816810.2025.2544636
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report

Hayyam Kıratlı, Pelin Özlem Şimşek‐Kiper, İrem Koç, Gizem Ürel Demir et al.
Ophthalmic Genetics
Genetic and Kidney Cyst Diseases
article

Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report

Hayyam Kıratlı, Pelin Özlem Şimşek‐Kiper, İrem Koç, Gizem Ürel Demir, Deniz Alyan
article en

Abstract

Our observations on this patient and some relationships between hamartoma and ciliopathies other than eye may potentially suggest a possible association between Jeune syndrome and retinal astrocytoma in the context of IFT74-related ciliopathies.

Ophthalmic GeneticsVol. 47(1)
Hacettepe University (TR)
Good health and well-being
Openalex Percentile: Top 77%
Genetic and Kidney Cyst Diseases
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.