OAG Strong evidence supports that OAG is a pleiotropic effect of the NPS1 gene. Age of diagnosis ranges from birth to late adulthood. Early diagnosis and treatment of elevated intraocular pressure prevent optic nerve and visual field damage. Patellar abnormalities Skeletal deformities include patellar absence or hypoplasia, which may decrease flexion. Although absent or dysplastic nails are the most common nail findings, non-specific changes include discoloration, longitudinal ridging, and poorly formed lunulae.
Nails are progressively less affected toward the fifth digit.
Elbow arthrodysplasia Clinical manifestations include an increased carrying angle, and limited supination and pronation. On radiographs, the head of the radius is underdeveloped and posteriorly displaced. The LMX1B gene plays a central role in limb dorsoventral patterning, and also patterning of the nails, patella, and long bones during development. Human fetal and adult kidneys show a high level of LMX1B expression thereby suggesting a critical function for this gene during kidney development. A 24-hour urine collection will quantitate protein and creatinine excretion.