To report a new phenotype with additional data on the oculo–dental syndrome of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) caused by mutations on CNNM4, a metal transporter ...

Patients with McKusick–Kauffman syndrome have a high prevalence of urogenital anomalies but normally lack the obesity, rod-cone dystrophy, and learning difficulties characteristic of BBS.

The RNIB said its members have reported problems ... The 36-year-old has cone rod dystrophy, an eye disorder that affects both the cone and rod cells of the retina. "I've had it since birth ...

Padma Cheriyan, 76, was invited to attend The Patron’s Lunch by RNIB (Royal National Institute of Blind People) in recognition of the contribution she has made to the charity’s vital work. Registered ...

Dublin, April 29, 2025 (GLOBE NEWSWIRE) -- The "Cone Rod Dystrophy Market: Analysis By Type, By Treatment Type, By End User, By Region Size and Trends - Forecast up to 2030" has been added to ...

The organisation's leader, volunteer Sharon Moncrieff, has sight loss condition severe cone dystrophy - and knows ... with Scottish Disability Sports, RNIB, Bowls Scotland and South Lanarkshire ...