Genetic testing for Japanese retinitis pigmentosa and related diseases

Genetic testing for Japanese retinitis pigmentosa and related diseases - Genetic testing for Japanese retinitis pigmentosa and related diseases

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000018565

Enrollment

1000

Registered

2015-08-06

Start date

2015-09-01

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Inherited chorioretinal dystrophies: retinitis pigmentosa, Leber congenital amaurosis, Stargardt Disease, Bardet-Biedl syndrome, Usher syndrome, Joubert syndrome, Refsum disease, Bietti crystalline corneoretinal dystrophy, X-linked juvenile retinoschisis, occult macular dystrophy, congenital stationary night blindness, choroideremia, Oguchi disease, fundus albipunctatus, and other chorioretinal dystrophies

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Japanese patient and family member of clinically diagnosed inherited chorioretinal dystrophies

Exclusion criteria

Exclusion criteria: Non Japanese genetic background supposed

Design outcomes

Primary

Measure	Time frame
molecular diagnosis (positive or negative findings)	—

Countries

Japan

Contacts

Public ContactNorimoto Gotoh

Kyoto University Graduate School of Medicine Department of Ophthalmology and Visual Sciences

eyegotoh@kuhp.kyoto-u.ac.jp075-751-3111

Outcome results