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)

1^st AD: Piebaldism

1^st AR: alkaptonuria

1^st XR: red green colour deficiency

1^st X D: Incontigenta pigmenti

1^st Mitochondrial: LHON

1^st digenic: RP

1^st trigenic: bardet biedel

1^st two-hit hypothesis: Retinoblastoma

1^st contiguous gene deletion syndrome: anridia syndrome of wagner

- compiled & published by Dr Dhaval Patel MD AIIMS