Abstract
Norrie Disease (ND) is a rare X-linked recessive genetic disorder caused by mutations in the Norrie disease protein (NDP) gene on the X chromosome. This disorder leads to congenital or neonatal blindness, progressive hearing loss in adolescence, and cognitive or behavioral problems. Although hearing loss is a characteristic feature of ND, it is often overlooked due to the prominence of ocular symptoms. This article presents a rare case of ND in a 3-month-old boy who failed the universal newborn hearing screening (UNHS) bilaterally, further audiological evaluation revealed bilateral sensorineural hearing loss. Suggests that patients with ND may be born with congenital hearing loss, earlier than the previous reports. Addressing hearing loss at an early stage can help minimize the compounding effect on cognitive functioning and improve overall mental well-being.
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