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 |
---|---|---|---|---|---|---|---|
1â1 | 38/F | 1Â yearânystagmus | 1/50 Light perception | Photophobia, high hyperopia, keratoconus in both eyes | Retinal dysplasia with attenuated retinal vessels and optic nerves atrophy (29Â years) | Bilaterally flat ERG tracings | â |
2â4 | 3/F | 1Â monthânystagmus the oculo-digital sign | Light perception | High hyperopia (+â9.0 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 (3Â years) | Photopic diminished, scotopic extinguished | Muscular hypotonia after birth |
3â7 | 8/M | 2Â monthsânystagmus, the oculo-digital sign, no fixation, no pacing | Light perception (intense light only) | Deep-set eyeballs, nystagmus, mild photophobia, hyperopia (+â4.0 D) | Normal optic nerve head, retinal pigment rearrangement, attenuated vessels (8Â years) | Extinguished | Reduced muscle tone, psychomotor development delayed, corpus callosum hypoplasia, chronic renal failure |
4â11 | 31/F | 6Â monthsânystagmus, 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 (31Â years) | Impossible to perform due to strong nystagmus | â |
4â12 | 24/M | 1Â yearânystagmus, hyperopic astigmatism, strabismus | OD: 0.5/50 before, and 5/16 after corneal transplantation OS: 0.5/50 | Keratoconusânow after right eye corneal transplantation (2019), keratoconus in the left eye | Drusen of the optic nerve head, retinal pigment rearrangements (14Â years) | Extinguished | â |
5â15 | 18/M | 3Â monthânystagmus, no fixation, no pacing | Counting fingers | High hyperopia (+â9.0D) keratoconus, right eye corneal transplant (2016), strong nystagmus | Thinned translucent retina, peripheral retinal pigment rearrangements, attenuated vessels, loss of macular reflex (18Â years) | Extinguished | â |
6â18 | 28/F | Childhoodânight blindness | Hand movements | Nystagmus (18Â 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 | â |
6â19 | 11/M | 5Â monthânystagmus, childhoodâ 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 | â |
6â52 | 30/F | 3Â monthsânystagmus, no fixation, no eye contact | Light perception and projection | Photophobia (2Â 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 (30Â years) | Extinguished | Prolonged neonatal jaundice |
7â23 | 12/F | 1Â monthânystagmus, the oculo-digital sign, absent pupillary responses | Light perception | Deep-set eyeballs | Thinned retina with salt and pepper fundus, optic disc pallor (12Â years) | Extinguished | Increased muscle tone, psychomotor development delayed |
7â24 | 15/M | After birthânystagmus, the oculo-digital sign, absent pupillary responses | Hand movements | Hyperopic astigmatism | Thinned retina with salt and pepper fundus appearance, optic disc pallor (15Â years) | Extinguished | â |
8â25 | 6/F | 2Â monthânystagmus, sluggish, then absent pupillary responses, no fixation | Light perception | Hyperopia with astigmatism | Retinal pigment deposits, attenuated vessels, loss of macular reflex (2Â years) | Extinguished | â |
9â29 | 10/F | 2Â monthânystagmus, 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 (6Â years) | Extinguished | â |
10â33 | 6/M | 1Â yearâconvergent strabismus | Counting fingers | Nystagmus (at 2Â 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 (2Â years) | Extinguished | â |
11â36 | 8/M | 1.5Â monthsânystagmus, absent pupillary responses, no fixation, no pacing | Light perception (intense light only) | â | Grey optic disc, attenuated vessels, Thinned translucent retina (3Â months) | Failed to perform | â |
12â39 | 7/M | 2Â monthsânystagmus, profound oculo-digital sign, no fixation, no pacing, no eye contact | Light perception (intense light only) | Sluggish pupillary responses, hyperopic astigmatism (+â6.0 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 (6Â years) | Extinguished | Reduced muscle tone, autism |
13â53 | 20/M | 2Â yearânystagmus | 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 (19Â years) | Extinguished | Psychomotor development was slightly delayed, |
13â54 | 17/M | 2Â monthsânystagmus | Hand movements | Myopic astigmatism, sluggish pupillary responses | OCT: thinning of the retina, photoreceptors and RPE atrophy, visual field: residual (17Â years) | Extinguished | Mild mental retardation |
14â61 | 19/F | 2Â monthsânystagmus, | 1/50 | Hyperopia (+â6.0 D) strabismus | Pale optic nerve head, loss of macular reflex, retinal pigment deposits, attenuated vessels (7Â years) | Extinguished | â |
15â44 | 8/M | 3Â monthsâno fixation, no pacing, no eye contact | Hand movements | Absent pupillary responses, high hyperopia (+â8.0 D) | Retinal pigment deposits, pale optic nerve head, loss of macular reflex (7Â years) | Not performed | â |
15â55 | 6/F | 2Â monthsânystagmus, 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 (6Â years) | Extinguished | â |
16â56 | 15/F | 1Â monthânystagmus, sluggish pupillary responses, | 4/50 4/50 | Hyperopic astigmatism, convergent strabismus, impaired night vision | Loss of macular reflex, attenuated vessels (6Â years) | Extinguished | â |
17â57 | 32/F | 3Â years | Light perception (intense light only) | Low-set eyeballs, visual field deficit | FA: extensive dystrophic changes; OCT: photoreceptors atrophy (9Â years) | Not performed | â |
18â58 | 42/F | 3Â monthsânystagmus, no light perception | Light perception | Photophobia, absent pupillary responses | pigmentary changes, optic nerves atrophy (33Â years) | Extinguished | â |
19â47 | 15/M | 3Â monthsânystagmus, strabismus | Hand movements | Hyperopic astigmatism, mild nystagmus | Macular degeneration and atrophy, optic nerves atrophy, optic disc pallor (6Â years) | Extinguished | â |
20â59 | 9/M | 3Â monthsâno fixation, no pacing, no eye contact, 4Â monthsânystagmus, 5Â monthsâoculo-digital sign | No light perception | Mild nystagmus | Fundus and OCT: macular atrophy, thinned translucent and thin retina (3Â years) | Extinguished | â |
21â60 | 1.5/F | 1Â monthâno fixation, no pacing, no eye contact, 2Â monthsânystagmus, 5Â monthsâoculo-digital sign, sluggish pupillary responses | Light perception | Hyperopic astigmatism, nystagmus, oculo-digital sign | Hypoplastic, pale optic nerve head, loss of macular reflex (6Â months) | scotopic response extinguished photopicâresidual (7Â months) | â |
22â50 | 40/F | 1 monthsânystagmus 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) | Scotopicâdiminished, photopicâextinguished (16 years) | â |