Name of disease:
ICD-10 diagnosis code:
Some cases of Cone Rod Dystrophy are sporadic, which means they occur in people with no history of the disorder in their family For cases with an autosomal dominant pattern of inheritance, it is associated with the mutation of CRX and GUCY2D gene. Some cases which show autosomal recessive pattern of inheritance are associated with mutation of ABCA4 gene Some cases which show X-linked recessive pattern of inheritance are associated with mutation of RPGR gene.
Mode of inheritance:
Cone Rod Dystrophy can be sporadic or is inherited from parents in autosomal dominant, autosomal recessive or X-linked recessive pattern.
Diagnosis of cone rod dystrophy is mainly based on symptoms and family history of patients as well as the clinical tests Specialized eye test such as fundus examination can be performed to support the diagnosis. Molecular genetic testing can also be done to detect the genetic mutation and confirm the diagnosis
Age of onset:
Common signs and symptoms:
Decreased visual acuity Color vision defect Dislike bright light (photophobia) Decreased sensitivity in central visual field Loss of peripheral vision Night blindness
Available treatments (medicinal and non-medicinal):
Currently, there is no curative treatment for cone rod dystrophy. The existing therapy mainly focuses on slowing down degenerative process and treat the complications.
Disease management tips:
Patients with cone rod dystrophy may show photophobia. Therefore, dark sunglasses can be worn under bright light. Patients may show decreased visual acuity, and therefore magnifying devices are required to assist the reading of affected individuals. For young patients, vocational training can be provided to them to reach their potential. Patients may progress to blindness at later stage. Therefore, caregivers may pay special attention to their daily self-care skills. Besides, caregivers should also encourage patients to overcome the social and psychological impact of blindness.
Other useful websites