Retina myopia progression
Phone One of the siblings also developed acute lymphoblastic leukemia.
In the eye, collagen XVIII plays a key role in ocular development, maintenance of retina myopia progression function, and neuronal migration. Collagen XVIII is also cleaved near its C-terminus to produce endostatin, a potent inhibitor of angiogenesis and tumor growth Digtyar, et al.
Angiogenesis may be important in the pathogenesis of hematological cancer, and Collagen XVIII is associated with malignancy [ Feldman, et al. Over 48 patients in 16 families have been reported with this autosomal recessive condition, but there are no reports of patients with both Knobloch syndrome and malignancy. In this study, we describe a KNO1 family with a unique genotype where one affected sibling developed acute lymphoblastic leukemia ALL.
The IRB waived informed consent for this retrospective chart study. Standard ophthalmological examinations were performed and fundus images were captured with the RetCam imaging system Clarity Medical Systems, CA. Primer sequences are available upon request.
A szálláskínálat technikája cserélhető lencsék segítségével.
The proband II-3 was a 4-year-old female reported to have midline occipital soft tissue swelling and alopecia, hypotonia, mild developmental delay, and normal growth and OFC. A Brain MRI at 13 months of retina myopia progression showed an occipital dermal sinus tract, frontal cortical dysplasia, white matter loss, and mild ventriculomegaly.
She had mild developmental delay. She also had an occipital scalp defect, but normal growth and development.
Brain MRI at age 4 showed an retina myopia progression dermal sinus tract and multiple punctuate areas of high signal along the supratentorial sulci. She was then diagnosed with acute lymphoblastic leukemia ALLpre-B type.
She remains in remission. The year-old brother II-1 was healthy. The proband and her sister had infantile nystagmus, high myopia, and poor vision, and they were referred for ophthalmic evaluation.