Jalili Syndrome

Abstract

A thirty years old Pakistani male was referred from University of Lahore,
Pakistan for clinical evaluation and interpretation of his ERG. Clinical
examination revealed Cone – Rod dystrophy. Systemic examination showed
discolored and abnormally shaped teeth. The patient was otherwise mentally
and physically normal. His ERG showed Scotopic (rod responses) within upper
normal limits in right eye while markedly reduced in the left eye. Scotopic rod
and cone combined responses (indicating generalized retinal functions) were
also decreased. Photopic (cone responses) were reduced in both eyes, with
more marked fall in the left eye as compared to the right eye.
Key Words: Rod-cone dystrophy, amelogenesis imperfect, Electro-retinogram,
pigmentary retinopathy