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Ocular

Cone-rod dystrophy – AIPL1 ABCA4 C8orf37 CEP78 CNGB3 KCNV2 PDE6C RPGRIP1 SEMA4A

December 8, 2020

Isolated – ALDH1A3 RAX VSX2

December 8, 2020

Corneal opacification and other ocular anomalies – PXDN

December 8, 2020

Gaze palsy, horizontal, with progressive scoliosis – ROBO3

December 8, 2020

Choroideremia – CHM

December 8, 2020

Congenital stationary night blindness – GPR179 NYX

December 8, 2020

Persistent hyperplastic primary vitreous – ATOH7

December 8, 2020

Macular degeneration (congenital) – CNGB3 RPGR

December 8, 2020

Leber congenital amaurosis – AIPL1 CEP290 CRB1 GUCY2D LCA5 LRAT NMNAT1 RD3 RDH12 RPE65 RPGRIP1 SPATA7 TULP1

December 8, 2020

Glaucoma (congenital) – CYP1B1

December 8, 2020

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Royal Children’s Hospital
Flemington Road, Parkville, VIC 3052
P (03) 8341 6315 E info@gsnv.org.au

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