Fabry disease: a survey of visual and ocular symptoms

Figures & data

Figure 1 Survey instrument administered to the study participants.

Notes: The participants read each numbered point and were instructed to grade the level of their symptom that is circle 1 if they almost never had the problem and 6 is they always had a problem. Survey instrument developed by Lee et al adapted for this study.¹³

Table 1 Symptom surveys, the median severity of groups, and statistical significance

No	Symptom	Mean severity score		P-value
		Fabry group	Control group
1	Burning/stinging	1.9	1.5	0.06
2	Tearing	2.0	1.9	0.2
3	Dryness	2.3	1.5	0.02*
4	Itching	2.0	1.8	0.3
5	Soreness/tiredness	2.4	1.7	0.009**
6	Blurry/dim vision	2.2	1.6	0.02*
7	Feeling of something in your eyes	2.0	1.5	0.07
8	Hard to see in daylight; I need to wear sunglasses	2.4	1.7	0.15
9	Hard to see in dark places	2.6	1.6	0.01*
10	Halos around light	2.4	1.7	0.01*

Notes:

* Significant at P<0.05

** significant at P<0.01.

Figure 2 Cornea verticillata in patients with Fabry disease.

Notes: (A) Cornea verticillata giving an even spread of a smear of deposits throughout the cornea. (B) Vortex-like deposits. (C) A subtle verticillata in a patient with Fabry disease.

Figure 3 Conjunctival tortuosity with aneurysms presenting as an out–pouching.

Notes: (A) Right eye of a patient with Fabry disease. The infero nasal bulbar conjunctiva shows conjunctival vessel tortuosity and aneurysm like outpouching. (B) Left eye of a patient with Fabry disease. The inferiorl bulbar conjunctiva shows conjunctival vessel tortuosity and aneurysm-like outpouching.

Table S1 A tally of the study participants that reported experiencing symptoms in the Fabry group and the control group

Symptoms		Problem	No problem
Burning and stinging	Disease	38	37
	No disease	5	15
Tearing	Disease	44	31
	No disease	11	9
Dryness*	Disease	44	31
	No disease	7	13
Itching	Disease	44	31
	No disease	9	11
Soreness, tiredness*	Disease	52	23
	No disease	6	14
Blurry, dim vision*	Disease	48	27
	No disease	7	13
Feeling something in your eyes	Disease	40	35
	No disease	6	14
Hard to see in daylight; I need sunglasses	Disease	39	36
	No disease	7	13
Hard to see in dark places*	Disease	45	30
	No disease	7	13
Halos around light*	Disease	44	31
	No disease	6	14

Notes:

* Symptoms that had a statistically significant greater severity score between groups. The survey was administered to 95 individuals (75 Fabry disease and 20 healthy controls).

LeeBLGutierrezPGordonMThe Glaucoma Symptom Scale. A brief index of glaucoma-specific symptomsArch Ophthalmol199811678618669682698

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