Table 3.
Clinical summaries
| ID (sex) | Clinical diagnosis | Onset age (yr); symptoms at onset | Visual acuity | Goldmann perimetry | Fundus | Auto fluorescence | OCT | ERGc |
|---|---|---|---|---|---|---|---|---|
| OGI519-1068 (F) | Macular dystrophy | 6; ↓ central vision | 8y: OD: 20/60; OS: 20/60; 14y: OD: 20/125; OS: 20/100 | 8y: 5° central scotoma (I4e); 14y: 15° central scotoma (I4e) | 8 yr and 14 yr: Ring of parafoveal atrophy, periphery normal | 14 yr: Parafoveal ring of hypoAF with hyperAF rim; similar to age 10 | 14 yr: Diffuse PR loss, parafoveal RPE atrophy; similar to age 10 | 8 yr: Normal rod and cone responses |
| OGI3079-4672 (M) | Macular dystrophy | 17; ↓ central vision | 33 yr: OD: 20/80; OS: 20/80 | Central scotomas (5° V4e; 15°I2e and I4e) | Central macular atrophy; few patches of paravenous atrophy | Central macular hypoAF with hyperAF rim; few small paravenous hyperAF rings | Bare foveal outer retinal structures with diffuse central PR and RPE loss elsewhere in central macula | Normal rod and cone responses |
| OGI2933-4518a (F) | Macular dystrophy | Childhood; ↓ central vision | 29 yr: OU: 20/160; 34y: OD:20/100; OS: 20/150 | N/A | 29 yr: Extensive macular atrophy with peripapillary sparing, peripheral atrophy including perivascular patches | N/A | N/A | N/A |
| OGI3076-4666 (M) | Cone-rod dystrophy | 8; photophobia and ↓ color vision | 13 yr: OD:20/100; OS:20/70 | N/A | Atrophy in macula and posterior pole atrophy with peripapillary sparing, nummular peripheral atrophy, attenuated vessels | Macular hypoAF with peripapillary sparing; diffuse peripheral zones of scalloped hypoAF with hyperAF outline | Diffuse outer retinal loss with focal subfoveal EZ and intact peripapillary outer retina | Multifocal ERG OD: Diffuse flattening with small peak centrally |
| OGI2356-3915 (F) | Early-onset severe retinal dystrophy | 3; nyctalopia and ↓ central vision | 7 yr (sc): OD 20/50; OS 20/100; 11 yr: OD: 20/60; OS: 20/100 | 10 yr: Paracentral and mid-peripheral scotomas | 10 yr: Atrophy in macula and posterior pole, peripapillary sparing, nummular peripheral atrophy, attenuated vessels | 10 yr: Macular hypoAF with peripapillary sparing; peripheral hypoAF with hyperAF rim, perivascular hyperAF | 10 yr: Diffuse outer retinal loss centrally with intact peripapillary outer retina | 7 yr, OD only: Rod amplitude ∼35% of normal; 30 Hz cone flicker ∼5 mcV |
| OGI1611-2841 (M) | Retinitis pigmentosa | 6; ↓ night, central, and peripheral vision | 26 yr: OD: 20/100; OS: 20/80; 48 yrb: OD: LP; OS: LP | 26 yr: Generalized constriction (III4e ∼40°, V4e ∼80°) | 26 yr: Macular atrophy and hyperpigmentation, peripheral bone spicules, attenuated vessels | 48 yr: Confluent hypoAF throughout macula and posterior pole; patchy hypoAF in periphery | 48 yr: Diffuse loss of PR and RPE | 26 yr: Rod response ND; 30 Hz cone flicker ∼1.0 mcV |
| OGI3077-4669 (M) | Early-onset severe retinal dystrophy | 2; nyctalopia | 6 yr: OD:20/50; OS:20/50; 29 yr: OD:20/100; OS:20/200 | 6 yr: Midperipheral scotomas; 29 yr: Severe constriction (V4e < 10°; peripheral island) | 6 yr: Macular granularity, peripheral bone spicules; attenuated vessels; 29 yr: atrophy throughout posterior pole with pigment clumps; peripheral bone spicules; attenuated vessels | 29 yr: Confluent macular hypoAF extending into midperiphery | 29 yr: Diffuse loss of photoreceptors and RPE; multiple focal pseudo-colobomas; choroidal atrophy | 7 yr: Rod response ND; 30 Hz cone flicker ∼ 1.0 mcV |
| OGI1662-2892 (M) | Early-onset severe retinal dystrophy | 3; ↓ central vision | 6 yr:b OD: 20/80; OS: 20/80 | Mild constriction (I4e 20°, V4e full) | Macular atrophy, peripheral bone spicules, attenuated vessels | N/A | N/A | Rod response ND; 30 Hz cone flicker < 5 mcV |
| OGI1613-2843 (F) | Retinitis pigmentosa | 26; nyctalopia | 33 yr : OD 20/60; OS 20/80; 55 yr: OD: HM; OS: HM | 44 yr: Severe constriction (V4e < 5°) | Macular atrophy with peripapillary sparing; peripheral bone spicules and attenuated vessels | N/A | N/A | 44 yr: Rod response ND; 30 Hz cone flicker < 1 mcV |
| OGI1610-2840 (F) | Retinitis pigmentosa | 9; nyctalopia & ↓ central vision | 65 yr: OD: CF, OS: CF | Limited peripheral III4e sensitivity; near-full V4e | Macular atrophy, peripheral bone spicules, attenuated vessels | N/A | N/A | Rod response ND; 30 Hz cone flicker < 5.0 mcV |
| OGI1242-2406 (F) | Cone-rod dystrophy | Childhood; ↓ central vision OS | 31 yr: OS: 20/125, OD: 20/125 | Central and midperipheral scotomas | Excavated macular atrophy; peripheral atrophy and bone spicules; attenuated vessels | Confluent hypoAF throughout macula and posterior pole; peripapillary sparing; patchy peripheral hypoAF | Central staphyloma with absent PR and RPE | Rod response ∼20% of normal; 30 Hz cone flicker <5.0 mcV |
Imaging and testing correspond to age from most recent visual acuity reported unless otherwise noted.
(AF) Autofluorescence, (CF) count fingers, (ERG) electroretinogram, (EZ) ellipsoid zone, (HM) hand motion, (mcV) microvolt, (ND) nondetectable, (PR) photoreceptor, (RP) retinitis pigmentosa, (RPE) retinal pigment epithelium, (sc) without correction.
aPatient has an affected sibling not represented in this cohort.
bNystagmus was noted at time of exam.
cFull-field unless indicated; bandpass filtering and computer averaging of 30 Hz responses performed.