Retinitis Punctata Albescens

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

RDH5, RLBP1, RHO, PRPH2, MFRP, RPE65, ERG, KCNMA1, RDH12

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins

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A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.