Table 1.

Differential diagnoses for early onset retinal dystrophies.^{10 13} Only the main extraocular features of the syndromic disorders are provided.

Non-syndromic retinal dystrophy	Syndromic retinal dystrophy	Extraocular features
Isolated Leber congenital amaurosis (LCA)	Usher’s syndrome	Congenital deafness
Congenital stationary night blindness	Senior-Loken syndrome	Nephronophthisis
Ocular albinism	Saldino-Mainzer syndrome	Renal dysplasia, cerebellar ataxia, skeletal dysplasia
Achromatopsia	Joubert syndrome	Cerebellar vermis hypoplasia, renal abnormalities
	Bardet-Biedl syndrome	Polydactyly, obesity, genitourinary malformation, mental retardation
	Alström syndrome	Obesity, diabetes, acanthosis nigricans and dilated cardiomyopathy
	Abetalipoproteinemia	Celiac syndrome, ataxic neuropathy, acanthocytosis, absent serum beta lipoprotein
	Peroxisomal disorders–infantile refsums disease, neonatal adrenoleukodystrophy and Zellweger disease	Peripheral neuropathy, cerebellar ataxia, hearing loss, developmental delay, craniofacial abnormalities
	Batten disease	Neuronal ceroid lipofuscinoses with developmental delay, seizures, psychoses and dementia