Kind Attention of Ophthalmology Consultants: Mumbai based, 17-year-old girl reports with H/o intense photophobia, myopia, inability to recognize colours , is using lenses for visual acuity correction, (~ 4 D), since childhood. Has been informed earlier by various doctors as (?) cone rod dystrophy - suggested investigations. Mother gives H/o AKT during pregnancy , possibly throughout entire duration of pregnancy, specific details of drugs taken unavailable. No family h/o colour blindness, notably, - both - father, as well as elder brother asymptomatic . 2 concerns at this stage: What does this suggest?
- Genetic mechanisms or drug induced retinal damage, possibly due to (?) Ethambutol during gestation? Any way to differenctiate / affordable genetic marker studies? Any difference in prognosis - genetic => pregressive / drug-related => non-progressive? Many Thanks in Advance!
