First in Genetics

Wow…!! It’s amazing that all of following diseases first described in each category has an eye manifestation…!!! (Ref: Alex Levin MD, WEI, PA, USA)

1st AD: Piebaldism

1st AR: alkaptonuria

1st XR: red green colour deficiency

1st X D: Incontigenta pigmenti

1st Mitochondrial: LHON

1st digenic: RP

1st trigenic: bardet biedel

1st two-hit hypothesis: Retinoblastoma

1st contiguous gene deletion syndrome: anridia syndrome of wagner

- compiled & published by Dr Dhaval Patel MD AIIMS