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Table 1 Clinical symptoms and the results of the ophthalmological examinations in 22 Polish families with LCA

From: Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Patient ID

Current age (years)/gender

Disease onset and first symptoms

BCVA

OD

OS

Ophthalmological symptoms

Fundus appearance (age at the funduscopy or other examination)

ERG results

Other non-ocular symptoms

1–1

38/F

1 year—nystagmus

1/50 Light perception

Photophobia, high hyperopia, keratoconus in both eyes

Retinal dysplasia with attenuated retinal vessels and optic nerves atrophy (29 years)

Bilaterally flat ERG tracings

–

2–4

3/F

1 month—nystagmus the oculo-digital sign

Light perception

High hyperopia (+ 9.0 D) convergent strabismus, no fixation, minimal eye contact

Pale optic nerve disc, salt and pepper appearance of the eye fundus, attenuated vessels, loss of macular reflex (3 years)

Photopic diminished, scotopic extinguished

Muscular hypotonia after birth

3–7

8/M

2 months—nystagmus, the oculo-digital sign, no fixation, no pacing

Light perception (intense light only)

Deep-set eyeballs, nystagmus, mild photophobia, hyperopia (+ 4.0 D)

Normal optic nerve head, retinal pigment rearrangement, attenuated vessels (8 years)

Extinguished

Reduced muscle tone, psychomotor development delayed, corpus callosum hypoplasia, chronic renal failure

4–11

31/F

6 months—nystagmus, no fixation, no pacing

Light perception and projection

Hyperopic astigmatism, cataract, strong nystagmus, convergent strabismus

Thinned translucent retina, peripheral retinal pigment rearrangements, attenuated vessels, keratoconus, cataract (31 years)

Impossible to perform due to strong nystagmus

–

4–12

24/M

1 year—nystagmus, hyperopic astigmatism, strabismus

OD: 0.5/50 before, and 5/16 after corneal transplantation OS: 0.5/50

Keratoconus—now after right eye corneal transplantation (2019), keratoconus in the left eye

Drusen of the optic nerve head, retinal pigment rearrangements (14 years)

Extinguished

–

5–15

18/M

3 month—nystagmus, no fixation, no pacing

Counting fingers

High hyperopia (+ 9.0D) keratoconus, right eye corneal transplant (2016), strong nystagmus

Thinned translucent retina, peripheral retinal pigment rearrangements, attenuated vessels, loss of macular reflex (18 years)

Extinguished

–

6–18

28/F

Childhood—night blindness

Hand movements

Nystagmus (18 years), mild deterioration of color vision

Fundus: Bilateral mottled fundus, foveal atrophy with focal pigmentary changes and peripheral bone-spicule pigmentation, attenuation of the vasculature, optic nerve pallor

OCT: photoreceptor loss, focal RPE hypertrophy, retinal thinning

Extinguished

–

6–19

11/M

5 month—nystagmus, childhood— night blindness

1/50

2/50

Night blindness, nystagmus

Fundus: macular atrophy, subtle pigmentary changes in the periphery

OCT: photoreceptors atrophy in the macula

Extinguished

–

6–52

30/F

3 months—nystagmus, no fixation, no eye contact

Light perception and projection

Photophobia (2 years), night blindness, deterioration of color vision

Thinned translucent retina with RPE atrophy, attenuated vessels, loss of macular reflex, secondary optic nerve atrophy

OCT: generalized retinal thinning, RPE hypertrophy (30 years)

Extinguished

Prolonged neonatal jaundice

7–23

12/F

1 month—nystagmus, the oculo-digital sign, absent pupillary responses

Light perception

Deep-set eyeballs

Thinned retina with salt and pepper fundus, optic disc pallor (12 years)

Extinguished

Increased muscle tone, psychomotor development delayed

7–24

15/M

After birth—nystagmus, the oculo-digital sign, absent pupillary responses

Hand movements

Hyperopic astigmatism

Thinned retina with salt and pepper fundus appearance, optic disc pallor (15 years)

Extinguished

–

8–25

6/F

2 month—nystagmus, sluggish, then absent pupillary responses, no fixation

Light perception

Hyperopia with astigmatism

Retinal pigment deposits, attenuated vessels, loss of macular reflex (2 years)

Extinguished

–

9–29

10/F

2 month—nystagmus, oculo-digital sign, photophobia, no fixation, no pacing, no eye contact

Light perception

Absent pupillary responses, nanophthalmos, hyperopia with astigmatism

Salt and pepper fundus appearance, hypoplastic optic nerve heads, attenuated vessels (6 years)

Extinguished

–

10–33

6/M

1 year—convergent strabismus

Counting fingers

Nystagmus (at 2 years), night blindness, visual field defects, hyperopic astigmatism, later myopia

Fundus, OCT, FA: thinned translucent retina with RPE atrophy, attenuated vessels, pigment deposits next to optic nerve head, diminished macular reflex (2 years)

Extinguished

–

11–36

8/M

1.5 months—nystagmus, absent pupillary responses, no fixation, no pacing

Light perception (intense light only)

–

Grey optic disc, attenuated vessels, Thinned translucent retina (3 months)

Failed to perform

–

12–39

7/M

2 months—nystagmus, profound oculo-digital sign, no fixation, no pacing, no eye contact

Light perception (intense light only)

Sluggish pupillary responses, hyperopic astigmatism (+ 6.0 D), cataract of one eye, deep-set eyeballs, still profound oculo-digital sign

OD: dense cataract (no insight to eye fundus)

OS: Pale optic nerve head, loss of macular reflex, Thinned translucent retina with salt and pepper fundus appearance, attenuated vessels (6 years)

Extinguished

Reduced muscle tone, autism

13–53

20/M

2 year—nystagmus

Hand movements

Myopia and retinal degeneration at 2-year-old, sluggish pupillary responses

Funduscopy and FA: extensive atrophic retinal changes, salt and pepper fundus appearance, optic disc pallor, OCT: thinning of the retina (19 years)

Extinguished

Psychomotor development was slightly delayed,

13–54

17/M

2 months—nystagmus

Hand movements

Myopic astigmatism, sluggish pupillary responses

OCT: thinning of the retina, photoreceptors and RPE atrophy, visual field: residual (17 years)

Extinguished

Mild mental retardation

14–61

19/F

2 months—nystagmus,

1/50

Hyperopia (+ 6.0 D) strabismus

Pale optic nerve head, loss of macular reflex, retinal pigment deposits, attenuated vessels (7 years)

Extinguished

–

15–44

8/M

3 months—no fixation, no pacing, no eye contact

Hand movements

Absent pupillary responses, high hyperopia (+ 8.0 D)

Retinal pigment deposits, pale optic nerve head, loss of macular reflex (7 years)

Not performed

–

15–55

6/F

2 months—nystagmus, oculo-digital sign, no fixation, no pacing, no eye contact

Hand movements

Sluggish pupillary responses, high hyperopia

Peripheral retinal pigment deposits, pale optic nerve head, attenuated vessels, loss of macular reflex (6 years)

Extinguished

–

16–56

15/F

1 month—nystagmus, sluggish pupillary responses,

4/50

4/50

Hyperopic astigmatism, convergent strabismus, impaired night vision

Loss of macular reflex, attenuated vessels (6 years)

Extinguished

–

17–57

32/F

3 years

Light perception (intense light only)

Low-set eyeballs, visual field deficit

FA: extensive dystrophic changes; OCT: photoreceptors atrophy (9 years)

Not performed

–

18–58

42/F

3 months—nystagmus, no light perception

Light perception

Photophobia, absent pupillary responses

pigmentary changes, optic nerves atrophy (33 years)

Extinguished

–

19–47

15/M

3 months—nystagmus, strabismus

Hand movements

Hyperopic astigmatism, mild nystagmus

Macular degeneration and atrophy, optic nerves atrophy, optic disc pallor (6 years)

Extinguished

–

20–59

9/M

3 months—no fixation, no pacing, no eye contact, 4 months—nystagmus, 5 months—oculo-digital sign

No light perception

Mild nystagmus

Fundus and OCT: macular atrophy, thinned translucent and thin retina (3 years)

Extinguished

–

21–60

1.5/F

1 month—no fixation, no pacing, no eye contact, 2 months—nystagmus, 5 months—oculo-digital sign, sluggish pupillary responses

Light perception

Hyperopic astigmatism, nystagmus, oculo-digital sign

Hypoplastic, pale optic nerve head, loss of macular reflex (6 months)

scotopic response extinguished photopic—residual (7 months)

–

22–50

40/F

1 months—nystagmus and photophobia, sluggish pupillary responses

Counting fingers

Hyperopic astigmatism, photophobia, visual field constricted to 5° (38 years)

Retinal pigment deposits, esp. in the periphery (3 years)

Scotopic—diminished, photopic—extinguished (16 years)

–

  1. OCT Optical Coherence Tomography, FA fluorescein angiography; ‘+’: present; ‘–’ not present, BCVA best corrected visual acuity, OD right eye, OS left eye, M male, F female