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Defective organelle Condition Principal ophthalmic manifestation Principal systemic manifestations Biochemical defect Lysosome sphingolipidoses Metachromatic leukodystrophy Optic atrophy, nystagmus Weakness, ataxia, dementia Arylsulfatase A Glucocerebrosidase Lysosome oligosaccharidoses Aspartylglycosaminuia Fucosidosis Crystalline cataracts Coarse facies, mental retardation, diarrhea, recurrent infections Aspartylglycosaminadase -L-Fucosidase Lysosome mucolipidoses Mucolipidosis III (pseudoHurler polydystrophy) Corneal clouding, pigmentary retinopathy, hyperoptic astigmatism Dysostosis multiplex, mental retardation, coarse facies (mild) UPD-N-Acetylglucosamine: lysosomal enzyme N- acetylglu-cosaminyl-1- phosphotransferase Lysosome mucopolysaccharidoses MPS 1H (Hurler) MPS II (Hunter) Corneal clouding, pigmentary retinopathy Dysostosis multiplex, organomegaly, coarse facies, mental retardation -L-Iduronidase Iduronate sulfatase Gaucher disease type 3 Abducens palsy, ocular motor apraxia Dysphagia.
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