Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria

Figures & data

Figure 1. 1a and 1b Patient with homocystinuria, 60 years of age, with bilateral ectopia lentis (subluxated lenses) and severe myopia.

Table 1. Summary of visual and ocular findings in patients with homocystinuria, including symptoms, ectopia lentis and myopia prior to diagnosis, best-corrected visual acuity, strabismus, refraction, surgery due to ectopia lentis, retinal pathology, and other typical homocystinuria manifestations.

Patient, age#	Eyeglasses	Symptoms	Ectopia lentis prior to diagnosis	Myopia prior to diagnosis	BCVA RE/LE	Strabismus	SE D RE/LE at inclusion	Posterior OCT RE/LE	UWFI RE/LE	Other HCU manifestation	Ectopic lentis (surgery)
B6 responsive:
3. 60y	Yes	No	Yes	Severe	1.0/1.0	No	−7.63/-6.88	N/N	N/N		Subluxated. No
6. 20y	Yes	Dry eyes	No	No	1.3/0.4	Esotropia LE	+2.13/+3.25	N/N	N/N		No
7. 70y	Yes	Light sensitivity	No	No	0.9/1.0	No	+2.25/+2.13	RA/RA	Peripheral RA, PM/peripheral RA, PM		No
8. 80y	Yes	No	Yes	Severe	0.65/0.65	Exophoria	+10.13/+10	N/N	Peripheral RA, PM/Peripheral RA, PM		Bilateral, non-IOL (aphakic)
9. 30y	No	No	No	No	1.0/1.0	Exophoria	+1.38/+0.38	NA/NA	NA/NA	Cavernous sinus thrombosis (14y)	No
12. 50y	Yes	No	Yes	Mild	1.0/Prosthesis	No	NA/Prosthesis	N/Prosthesis	N/Prosthesis	Cavernous sinus thrombosis (20y, 22y, 25y) Secondary glaucoma	Bilateral, non-IOL (aphakic) + prothesis LE *
14. 40y	Yes	Light sensitivity	No	No	1.0/1.0	No	−0.25/-0.25	Mild RA/mild RA	N/N	Cavernous sinus thrombosis (23y)	No
15. 50y	Yes	Dry eyes	No	Mild	1.0/1.0	No	−3.75/-3.88	N/N	N/PM in ascending vessel		No
17. 50y	Yes	No	No	Severe	1.0/1.0	No	−4.75/-5.25	N/N	RA/N	Deep vein thrombosis (20y)	No
18. 60y	Yes	No	No	No	1.0/1.0	No	+2/+1.63	N/N	N/N		No
Partially B6 responsive:
1. 50y	Yes	No	No	Mild	1.0/1.0	Exophoria	−5.87/-6.12	N/N	NA/NA	Cavernous sinus thrombosis (18y)	No
2. 60y	Yes	No	Yes	NA	0.9/0.15	No	NA/NA	N/RA, staphyloma	N/Pronounced peripheral RA and PM		Bilateral, IOL
5. 30y	Yes	No	Yes	Severe	1.0/1.3	Exophoria	NA/NA	N/N	N/N		Bilateral, IOL
11. 30y	Yes	Dry eyes	Yes	Severe	1.0/0.9	Exophoria	NA/NA	N/N	TV RE LE		Bilateral, IOL
13. 30y	Yes	Light sensitivity	No	Mild	0.7/0.7	No	−3.88/-1.88	N/N	N/Peripheral RA		No
16. 30y	Yes	Dry eyes, light sensitivity	Yes	Severe	Prosthesis/0.5	No	Light perception/-5.25	NA due to corneal opacities/N	NA due to corneal opacities/TV, RA		Bilateral, IOL
B6 non-responsive:
4. 30y	Yes	No	No	No	0.4/0.8	No	−6.5/-1.88	N/Mild RA	N/N		No
10. 30y	Yes	No	No	No	0.65**/1.0	Hypertropia	+4.38/+1.25	NA/NA	N/N		No

BCVA, best-corrected visual acuity; RE, right eye; LE, left eye; SE, spherical equivalent; D, diopters; OCT, optical coherence tomography; UWFI, ultra-widefield imaging; HCU, homocystinuria; y, years; N, normal; RA, retinal atrophy; PM, pigmentary mottling; NA, not applicable; IOL, intraocular lens; TV, tortuous retinal vessels. Definition: Myopia, Severe <-6 diopters, Moderate −1.5 to −6 diopters, Mild 0 to −1.5 diopters.

*Due to secondary glaucoma complication.

**anisometropic as child.

#Patient age given as approximation.

Figure 2. Exterior image from 30-year-old patient displaying dense corneal opacities with growth of vessels in the right eye which was blind after repeated surgery for retinal detachment after ectopia lentis.

Figure 3. Patient with homocystinuria, 30 years of age, who underwent ocular surgery at 25 years of age because of ectopia lentis, where the crystalline luxated lens was removed and replaced with an intraocular lens (IOL). Several surgical re-operations were needed as the IOL also luxated. Diagnosis of HCU was established three years after the first surgery.

Figure 4. a, b and c OCT- and UWFI-images from a 70-year-old patient with homocystinuria. OCT showing bilateral retinal atrophy. UWFI-images showing bilateral peripheral pigmentary changes and retinal atrophy.

Figure 5. Duration from onset of first ocular manifestation to diagnosis in patients presenting with ocular manifestations, such as ectopia lentis or severe myopia, prior to a diagnosis of homocystinuria. Several patients had both before being diagnosed. Duration from the onset of the first ocular manifestation of homocystinuria to diagnosis is shown in blue. The eye symbol indicates ocular manifestation, and the black box indicates a thrombotic event. “D” indicates time of diagnosis, “EL” indicates ectopia lentis, and “SM” indicates severe myopia.

Table 2. Demographic data, visual and ocular findings, and results of visual quality of life in a group of 18 patients with homocystinuria.

Median age at inclusion (years)	42.8 (range 20.5–77.7)
Sex	7 male, 11 female
B6-responsive	10/18
Refractive Error	17/18
Subjective symptoms (light sensitivity/dry eyes)	7/18
Strabismus	7/18
Ectopia lentis prior to diagnosis	6/18
Severe myopia prior to diagnosis	6/18
Pathologies presented on OCT	4/16
Pathologies presented on UWFI	8/16
Mean BCVA RE/LE	0.86 (range amaurosis-1.3 (RE))/0.8 (range amaourosis-1.3 (LE))
Median VFQ-25 composite score	93, range 73–98, n = 14

OCT, optical coherence tomography; UWFI, ultra-widefield imaging; BCVA, best-corrected visual acuity; RE, right eye; LE, left eye; VFQ-25, Visual Function Questionnaire 25; n, number of patients.

Data availability statement

The data that support the findings of this study are available on request from the corresponding author, KTF. The data are not publicly available due to containing information that could compromise the privacy of research participants.