Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses

Figures & data

Figure 1 Corneal clouding.

Note: Courtesy of National MPS Society.

Table 1 Overview of MPS types

Category	Disease	Enzyme deficiency	Accumulating substance	Gene (locus)	INH	Incidence
MPS type I-S	Scheie syndrome	α-l-iduronidase	Dermatan sulfate, heparan sulfate	IDUA (4p16.3)	AR	Severe: 1/100,000
MPS type I-HS	Hurler–Scheie syndrome	α-l-iduronidase	Dermatan sulfate, heparan sulfate	IDUA (4p16.3)	AR	Attenuated: 1/500,000 to
MPS type I-H	Hurler syndrome	α-l-iduronidase	Dermatan sulfate, heparan sulfate	IDUA (4p16.3)	AR	1/115,000 live births
MPS type II	Hunter syndrome	Iduronate sulfatase	Dermatan sulfate, heparan sulfate	IDS (Xq28)	XR	1/150,000 to 1/100,000 male births
MPS type IIIA	Sanfilippo syndrome A	Heparan N-sulfatase (sulfamidase)	Heparan sulfate	SGSH (17q25.3)	AR	1 in 70,000 live births
MPS type IIIB	Sanfilippo syndrome B	α-N-acetylglucosaminidase	Heparan sulfate	NAGLU (17q21)	AR
MPS type IIIC	Sanfilippo syndrome C	Acetyl-CoA:α-glucosaminide	Heparan sulfate	HGSNAT (8p11.1)	AR
MPS type IIID	Sanfilippo syndrome D	N-acetylglucosamine-6-sulfatase	Heparan sulfate	GNS (12p14)	AR
MPS type IVA	Morquio syndrome type A	N-acetylgalactosamine-6-sulfatase	Keratan sulfate	GALNS (16q24.3)	AR	1 in 200,000 live births
MPS type IVB	Morquio syndrome type B	β-galactosidase	Keratan sulfate	GLB1 (3p21.33)	AR
MPS type VI	Maroteaux–Lamy syndrome	N-acetylgalactosamine-4-sulfatase (arylsulfatase B)	Dermatan sulfate	ARSB (5q11–q13)	AR	1/600,000 to 1/250,000 live births
MPS type VII	Sly syndrome	β-Glucuronidase	Heparan sulfate, dermatan sulfate	GUSB (7q21.11)	AR	1/250,000 live births
MPS type IX	Natowicz syndrome	Hyaluronidase	Hyaluronan	HYAL1 (3p21.3–p21.2)	AR	Unknown

Abbreviations: MPS, mucopolysaccharidosis; INH, inheritance; AR, autosomal recessive; XR, X-linked recessive.

Table 2 Overview of systemic features in MPS

Systemic manifestations	Type of MPS
	I-S	I-HS	I-H	II	III	IV	VI	VII	IX
Mental deficiency	−	−	+	±	+	−	−	±	−
Coarse facial features	±	+	+	+	+	−	+	±	+
Middle ear disease/deafness	+	+	+	+	+	+	+	+	−
Cardiorespiratory disease	+	+	+	+	+	+	+	+	−
Visceromegaly	±	+	+	+	±	−	+	+	−
Short stature	±	+	+	+	−	+	+	+	±
Joint contractures	+	+	+	+	−	−	+	+	−
Dysostosis multiplex	±	+	+	+	±	+	+	+	−
Leukocyte inclusions	±	+	+	+	+	−	+	+	+
Mucopolysacchariduria	+	+	+	+	+	+	+	+	−
Other				Seizures	Behavioral disturbance Hirsutism, irregular sleep		Hydrocephalus, spinal stenosis	Hydrocephalus, hydrops fetalis	Soft tissue masses, acetabular erosions

Notes: +, often present; −, often absent; ±, may be present.

Abbreviations: MPS, mucopolysaccharidosis; HS, Hurler–Scheie syndrome; H, Hurler syndrome; S, Scheie syndrome.

Table 3 Overview of ocular features in MPS

MPS type (eponym)	Ocular manifestations
	Corneal clouding	Retinopathy	Glaucoma	Optic nerve abnormalities	Other
MPS I-S (Scheie)	+	++	+	+
MPS I-HS (Hurler–Scheie)	++	++	++	++
MPS I-H (Hurler)	+++	++	++	++
MPS II (Hunter)	+	++	+	++
MPS III (Sanfilippo)	+	+++	+	+	Bushy eyebrows, late blindness
MPS IV (Morquio)	+	++	+	+	Pseudo-exophthalmos
MPS VI (Maroteaux–Lamy)	+++	Unknown	++	++
MPS VII (Sly)	++	Unknown	++	++	Colobomas of the iris
MPS IX (Natowicz)	Unknown	Unknown	Unknown	Unknown

Notes: +, mild; ++, moderate; +++, severe.

Abbreviation: MPS, mucopolysaccharidosis.

Figure 2 Heparan sulfate degradation pathway.

Note: Modified with permission of themedicalbiochemistrypage, LLC.³⁹
Abbreviation: MPS, mucopolysaccharidosis.

Figure 3 Dermatan sulfate degradation pathway.

Note: Modified with permission of themedicalbiochemistrypage, LLC.³⁹
Abbreviation: MPS, mucopolysaccharidosis.

Figure 4 Patient with hepatosplenomegaly and umbilical and inguinal hernias.

Note: Courtesy of National MPS Society.

Figure 5 Keratan sulfate degradation pathway.

Note: Modified with permission of themedicalbiochemistrypage, LLC.³⁹
Abbreviation: MPS, mucopolysaccharidosis.

The medical biochemistry page [website on the Internet] [updated May 14, 2015]. Available from: http://themedicalbiochemistrypage.org/Accessed May 9, 2015

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