Table 1.

Ocular dysfunctions in lysosomal storage diseases.

LSD type	Gene deficiency	Protein accumulation	Ocular phenotype	Reference
Tay–Sachs disease and Sandhoff disease	Hexosaminidase A (HEXA) and B (HEXB)	GM2 ganglioside	Destruction of rods and cones and vacuolated inclusions in RPE cells	[121]
Lysosomal acid lipase deficiency, Wolman disease, and cholesteryl ester storage disease	Acid lipase	Lipids	Inefficient elimination of POS debris and outer retinal degeneration	[122]
Neuronal ceroid‐lipofuscinosis	CTSD CLN1‐8	Sphingolipids Lipopigments	Retinal atrophy and photoreceptor degeneration	[123, 124]
Mucolipidosis	α‐Neuraminidase (NEU1), UDP‐N‐acetylglucosamine‐1‐phosphotransferase (GNPTAB, GNPTG), Mucolipin‐1 (MCOLN1)	Glycoproteins Carbohydrates Lipids	Severe retinal degeneration and POS incomplete degradation	[125, 126]
α‐Mannosidosis	α‐mannosidase (MAN2B1)	Mannose pentasaccharides	Incomplete degradation of rhodopsin containing outer segment material and RPE atrophy	[84, 127]
Galactosialidosis	Cathepsin A (CTSA)	Sialyloligosaccharides	Senescence of RPE	[128]
Gaucher disease	Glucocerebrosidase (GBA)	Glucosylceramide	Atrophic retina, photoreceptor, and RPE loss	[129]
Fabry disease	α‐galactosidase‐A (GLA)	Globotriaosylceramide	RPE cells apoptosis	[130]
Niemann–Pick disease	Acid sphingomyelinase	Sphingomyelin	Impaired visual function, lipofuscin accumulation in the RPE layer, degeneration of POS	[131, 132]
Metachromatic leukodystrophy	Arylsulfatase A	Sulfated compounds	RPE degeneration	[133]