Ocular findings in adults with mucopolysaccharidosis II-B [Hunter Syndrome, mild]

A 47 year-old man with the mild form of Hunter syndrome [Mucopolysaccharidosis II-B] did not have corneal clouding, He had optic nerve head swelling and a pigmentary retinopathy which had slowly progressed from a prior examination at age 26 years. Review of the ocular findings in 37 other patients with MPS II-A and II-B confirmed the absence of corneal clouding in all patients, including 5 other adults with MPS II-B age 19-32 years, and the presence of optic nerve head swelling and pigmentary retinopathy in some

Cataract as manifestation of Focal Dermal Hypoplasia Syndrome, Goltz Syndrome

Focal dermal hypoplasia is a rare ectomesodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular and soft tissue defects. The inheritance pattern is X-linked dominant mode with a high lethality in males. We had the opportunity to observe an additional case of this very unusual disease in a 9-year old Syrian girl. We report her as the seventh case in the ophthalmic literature and add cataract as a new manifestation of this disease