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Ocular

Hermansky-Pudlak syndrome – HPS1 HPS3 HPS4 HPS5 HPS6

December 8, 2020

Oculocutaneous albinism – GPR143 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1

December 8, 2020

Retinal dystrophy, early-onset severe – LRAT RCBTB1 CFAP410

December 8, 2020

Macular dystrophy with central cone involvement – MFSD8

December 8, 2020

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

December 8, 2020

Isolated – ALDH1A3 RAX VSX2

December 8, 2020

With coloboma – STRA6 VSX2

December 8, 2020

Syndromic – STRA6 RARB

December 8, 2020

Foveal hypoplasia, with or without optic nerve misrouting and/or anterior segment dysgenesis – SLC38A8

December 8, 2020

Congenital cataracts – AGK FYCO1 NHS TDRD7

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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