Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease

Table 1

Principal clinical findings of our series and mutations. NYHA: New York Heart Association; MWT: interventricular maximum wall thickness; GFR: glomerular filtration rate (mL/min/1,73 mq); E.R.T: Enzyme Replacement Therapy; P.C: Pharmacological Chaperone.

	Sex	Age	NYHA	MWT (mm)	GFR (mL/min)	Stroke	Phenotype	Cornea verticillata	Mutation	Therapy
Patient 1	F	57	1	14	55.2	Yes	Classic	Yes	p.(Arg301Pro)	E.R.T.
Patient 2	F	71	1	14	76	Yes	Classic	Yes	p.(Arg301Pro)	P.C.
Patient 3	M	38	2	15	71.5	Yes	Classic	Yes	p.(Met1Val)	E.R.T.
Patient 4	F	30	1	14	110	No	Classic	No	p.(Lys240ArgfsX29)	No
Patient 5	M	65	2	21	78	No	Late-onset	No	p.(Asn215Ser)	E.R.T.
Patient 6	M	53	2	10	50	Yes	Classic	Yes	p.(Cys63Tyr)	E.R.T.
Patient 7	F	69	2	13	77	No	Classic	No	p.(Leu243Ser)	No
Patient 8	F	61	2	14	75	No	Classic	Yes	p.(Ser364Leufs9)	E.R.T.
Patient 9	M	35	1	12	130	Yes	Classic	Yes	p.(Ser364Leufs9)	E.R.T.
Patient 10	F	30	1	8	170	Yes	Classic	Yes	p.(Ser364Leufs9)	E.R.T.
Patient 11	M	60	1	1	19	Yes	Classic	Yes	p.(Arg112Cys)	E.R.T.