Patient ID | Genetic findings | Revised Diagnosis | Age (years) | Gender | Visual acuity (Bilateral) | Refraction (Bilateral) | Clinical Presentation | ERG | Fundus | SD-OCT | Autofluorescence | Other Systemic problems | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Onset | Diagnosis | Current | Nystagmus | Oculodigital Sign | Others | |||||||||||
AS01 | RPE65 | LCA | 1 | 1 | 8 | F | 6/24 | LH | Horizontal jerky | Absent | Large angle exotropia, Night blindness | Non-recordable | MAA, ILM Wrinkling | NRA, Well preserved central IS/OS junction with peripheral disruption | NA | Ā |
AS02 | LCA5 | LCA | 0.67 | 1 | 7 | M | 6/24 | MH | Horizontal jerky | Present | Exotropia, Night blindness, Photophobia | Non-recordable | MAA, Pigmentary retinopathy | NRA, Well preserved central outer retinal layers, Loss of IS/OS peripheral to macula | Increased auto-fluorescence at macula | Ā |
AS03 | LCA5 | LCA | 1 | 1 | 11 | F | LP+ | MH | Roving eye movement | Present | Photophobia, Posterior subcapsular cataract | Non-recordable | Thread like arteries, Marbled fundus, Macular atrophy | Thick distorted retina, Centrally preserved outer retinal layers | NA | Ā |
AS04 | CRX | LCA | 0.75 | 0.75 | 6 | M | LP+ | MH | Roving eye movement | Present | Large angle exotropia | Non-recordable | MAA, GDA | Thin distorted retina, Complete loss of outer retinal layers | Slightly reduced | Ā |
AS05 | PRPH2 | LCA | 1 | 2 | 8 | F | 6/60 | LH | Multiplanar | Present | Variable angle exotropia | Non-recordable | Yellow vitelliform lesion at fovea with central hyper pigmented spot | NRA, Hyper reflectivity of the vitelliform substance from the subretinal space | Ring of increased auto-fluorescence at macula and speck of decreased auto-fluorescence at center | Ā |
AS06 | CEP290 | LCA | 0.5 | 0.5 | 7 | F | LP+ | HH | Roving eye movement | Present | Cortical cataract | Non-recordable | Disc pallor, Thread like arteries, Marbled fundus | Thin distorted retina | NA | Head titubation, Developmental delay, Kidney failure |
AS07 | ALMS1 | LCA | 1 | 1 | 6 | M | LP+ | HH | Horizontal pendular | Absent | Photophobia | Non-recordable | Thread like arteries, GDA, ILM wrinkling | Thick distorted retina, Central preservation of outer retinal layer, Loss of IS/OS peripheral to macula | NA | Ā |
AS08 | IFT80 | LCA | 1 | 2 | 11 | F | HM | MH | Multiplanar | Present | Photophobia | Non-recordable | Disc pallor, Thread like vessels, Marled fundus, Macular coloboma | Atrophied neurosensory retina, Complete loss of outer retinal layers, Crater like macular depression | Decreased auto-fluorescence at macula | Ā |
AS09 | RP1 | Early-onset retinitis pigmentosa | 1.75 | 2 | 13 | F | HM | LH | Multiplanar | Present | Posterior subcapsular cataract | Non-recordable | Disc pallor, MAA, Bulls eye macula, ILM wrinkling | Thick distorted retina | Decreased auto-fluorescence at macula and specks of increased auto-fluorescence at center | Ā |
AS10 | No variant of interest | LCA | 0.5 | 2 | 10 | M | HM | M | Vertical jerky | Absent | Exotropia, Photophobia | Non-recordable | Disc pallor, Thread like arteries, GDA, Pseudohole | Thick distorted retina | NA | Dry skin, Hyperpigmented Knuckles |