Mutation Screening and Clinical Findings in a Family with Oguchi Disease in Turkey
Not Applicable
Active, not recruiting
- Conditions
- Oguchi night blindnessEye - Diseases / disorders of the eye
- Registration Number
- ACTRN12615001113549
- Lead Sponsor
- Ankara Ulucanlar Eye Education and Research Hospital
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Active, not recruiting
- Sex
- All
- Target Recruitment
- 6
Inclusion Criteria
The 12-year-old boy (Case 1), 14-year-old girl (Case 2), 16-year-old girl (Case 3), 19-year-old girl (Case 4), 41-year-old woman (Mother) (Case 5), and a 44-year-old man (Father) (Case 6) will be examined.
The participants are all members of the same family.
A 41-year-old woman (Mother) and a 44-year-old man (Father) had a consanguineous marriage with a 4th degree relative (paternal cousin).
Cases 1-4 noticed night blindness initially 3-10 years previously.
There were no history of problems with night vision in both father and mother.
Exclusion Criteria
Anyone outside of the selected family is excluded from the study.
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method