The patient may remain asymptomatic or progress to end-stage renal disease. Hypoplastic nails Absence of the thumbnail is the most common nail pattern. Other nails may be less fragile. Some patients complain of recurrent dislocation or arthritis, which may necessitate patellar replacement. Patients present with proteinuria as the first clinical symptom.
Some cases progress to end-stage renal disease requiring transplantation.
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.