Kamron N Khan Wellcome clinical fellow, Manir Ali senior research fellow, James A Poulter research fellow, Martin McKibbin consultant ophthalmologist, Chris F Inglehearn professor of molecular ophthalmology
Khan K N, Ali M, Poulter J A, McKibbin M, Inglehearn C F.
Patterns of inheritance, not always easily visible
BMJ 2013; 347 :f6610
doi:10.1136/bmj.f6610
Re: Patterns of inheritance, not always easily visible--Is this really Schnyder Corneal Dystrophy?
I have published extensively on Schndyer corneal dystrophy, having followed 115 affected patients for up to 18 years (Weiss JS: Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society Thesis) Transactions of the American Society of Ophthalmology 105:616-648, 2007) and our group published that mutations in UBIAD1 were causative of the disease (Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White P, Winters RS, Lisch W, Henn W, Denniger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML: Mutations in the UBIAD1 gene on chromosome 1p36 cause Schnyder crystalline corneal dystrophy. Investigative Ophthalmology and Visual Sciences 48:5007-5012, 2007).
All children I have seen with the disease have had visually insignificant changes at the age described. Typically few crystalline deposits would be seen at age 4. If a patient has non crystalline Schndyer corneal dystrophy, I have never seen a diagnosis made in childhood.
So, I wonder if this has the phenotype of Schnyder corneal dystrophy, with the lack of autosomal dominant inheritance and the suggestions this is a more severe corneal opacity than typically seen.
It would be most helpful if photos were added or included.
Competing interests: No competing interests