Generalized Inherited Retinal Dystrophies

Inherited Retinal Degenerations

“…The rhodopsin gene still accounts for only about 10% of the RP variants, and over half of the gene mutations are yet unknown. 11 Given this heterogeneity, the severity of symptoms and fundus appearance are highly variable among affected patients and carriers. The hallmark features of RP are night blindness and progressive loss of peripheral vision.…”

“…Over 400 mutations have been identified in the 14 genes currently associated with LCA, shown in Table 2. 11,12 The most common LCA mutations are CEP290 (15%), GUCY2D (12%), CRB1 (10%), and RPE65 (6%). 20 Gene therapy for LCA was first studied in canines through the replacement of the RPE65 gene through a subretinal injection of an adenoassociated viral gene vector.…”

“…Bardet Biedl syndrome describes a pigmentary retinopathy with obesity and variable association with polydactyly, neurologic, and urogenital defects. Senior-Loken syndrome (familial juvenile nephrophthisis) is a form of RP, associated with juvenile polycystic kidney disease and widespread systemic anomalies 11 . Multiple genes and mutations have been identified for each of these RP variants.…”

“…The most common of these is Usher Syndrome, a pigmentary retinopathy associated with deafness that is believed to account for approximately 50% of the patients with combined hearing and vision loss. 11 Usher syndrome has been classified into 3 types based on age of onset and associated findings. Type 1 presents in early childhood with vision loss, profound deafness, speech disorder, and impaired balance.…”

Pediatric Ophthalmology / Eye and Disorders

“…RP can occur as an isolated sporadic disorder with no family history. The age of onset, rate of progression, eventual visual loss and associated ocular/systemic features are related to the type of inheritance (Khani, 2011). Approximately 20% of these cases are ADRP, and 6% to 9% are XLRP.…”