Overview
Retinal ciliopathy due to mutation in nephronophthisis genes (Orphanet code 156180) refers to a group of inherited retinal dystrophies caused by mutations in genes that are typically associated with nephronophthisis (NPHP), a ciliopathy primarily known for causing cystic kidney disease. These genes encode proteins essential for the structure and function of primary cilia, which play critical roles in cellular signaling in multiple organ systems, including the retina. When mutations in NPHP genes predominantly or exclusively affect the eye, patients develop progressive retinal degeneration without necessarily manifesting the renal features classically associated with nephronophthisis. The retinal involvement typically presents as a rod-cone dystrophy or retinitis pigmentosa-like phenotype, with symptoms including progressive loss of night vision (nyctalopia), constriction of peripheral visual fields, and eventual decline in central visual acuity. Some patients may also develop features of Leber congenital amaurosis or early-onset severe retinal dystrophy. The condition primarily affects the photoreceptor cells of the retina, which are highly dependent on ciliary function for the transport of proteins within the outer segments. Genes implicated include NPHP1, NPHP4, IQCB1 (NPHP5), CEP290 (NPHP6), and others within the nephronophthisis gene family. There is currently no curative treatment for retinal ciliopathy due to NPHP gene mutations. Management is primarily supportive and includes regular ophthalmological monitoring, low-vision aids, and orientation and mobility training. Gene therapy approaches are under active investigation for some forms of retinal ciliopathies, and patients should be monitored for potential renal involvement, as kidney disease may develop later in life even in those initially presenting with isolated retinal disease. Genetic counseling is recommended for affected families.
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Retinal ciliopathy due to mutation in nephronophthisis gene.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Retinal ciliopathy due to mutation in nephronophthisis gene at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Retinal ciliopathy due to mutation in nephronophthisis gene.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Retinal ciliopathy due to mutation in nephronophthisis gene.
Community
No community posts yet. Be the first to share your experience with Retinal ciliopathy due to mutation in nephronophthisis gene.
Start the conversation →Latest news about Retinal ciliopathy due to mutation in nephronophthisis gene
No recent news articles for Retinal ciliopathy due to mutation in nephronophthisis gene.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Retinal ciliopathy due to mutation in nephronophthisis gene
What is Retinal ciliopathy due to mutation in nephronophthisis gene?
Retinal ciliopathy due to mutation in nephronophthisis genes (Orphanet code 156180) refers to a group of inherited retinal dystrophies caused by mutations in genes that are typically associated with nephronophthisis (NPHP), a ciliopathy primarily known for causing cystic kidney disease. These genes encode proteins essential for the structure and function of primary cilia, which play critical roles in cellular signaling in multiple organ systems, including the retina. When mutations in NPHP genes predominantly or exclusively affect the eye, patients develop progressive retinal degeneration with
How is Retinal ciliopathy due to mutation in nephronophthisis gene inherited?
Retinal ciliopathy due to mutation in nephronophthisis gene follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.