In addition to refractive errors such as myopia and astigmatism, ocular disorders that occur in infants, toddlers, and children may present lifelong problems for the child. Conditions such as strabismus, amblyopia, and retinopathy of prematurity may require adaptations in adulthood. In addition, vision disorders that occur in childhood may manifest as problems well into adulthood. When visual impairment is present, there may be further effects on overall health, self-perception, educational attainment, job choices, and a number of other social factors.

No abstract

Patients with early-onset cblC and MMACHC mutations showed an early-onset, unusually fast-progressing maculopathy with severe central ONL and GCL loss. An abnormally thickened inner retina supports a remodeling response to both photoreceptor and ganglion cell degeneration and/or an interference with normal development in early-onset cblC.

A thick surface layer near the optic nerve resembling an immature retina and an initially normal macula that rapidly developed coloboma-like lesions suggest there may be an interference with retinal/foveal development in cblC, a mechanism of maculopathy that may be shared by other early onset retinal degenerations. Photoreceptor loss and inner retinal remodeling confirm associated photoreceptor degeneration.