An infant born in Mumbai, India, nearly 27 years ago initially appeared healthy, with normal feeding and growth. However, the mother noticed an absence of visual engagement—no face regard and no typical visual response when held. Early evaluations were reassuring, and the lack of visual tracking was attributed to normal developmental variation. As months passed without improvement, further assessment was pursued.
Diagnostic Turning Point at 3.5 Months At around 3.5 months of age, an examination under anesthesia revealed bilateral retinal detachment, prompting concern for a congenital retinal disorder. Initial testing in India, including visual evoked potentials, showed minimal responses, leading the family to seek further evaluation in the United Kingdom. Specialists there immediately suspected Norrie disease and advised that retinal surgery would not help, recommending a…
