| Popis: |
Clinical congenital anophthalmos varies on a spectrum of complete lack of an eye to an underdeveloped, small eye. Multiple genetic mutations have been linked with this rare disorder, including genes involved in early development (SOX2), development of the lens or retina (PAX6, CHX10), and vitamin A processing (STRA6, RARB, RBP4). The early diagnosis of clinical anophthalmos is important in part because of its association with a variety of developmental abnormalities, which are seen in 33–73% of infants born with anophthalmos. It is also important for an early concerted effort between ophthalmologists, ocularists, and the family to expand the socket and orbital space. Initial expansion of the socket space with acryl or hydrogel conformers is quickly followed by expansion of the orbit with hydrogels in order to stimulate bone growth. With close follow-up and compliance, good cosmetic and psychosocial outcomes can be achieved. |
