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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