Research Article

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Table 2

Ophthalmologic findings in the cohort.

SubjectFundus appearanceFAFSD-OCTGoldmann perimetry

1Peripheral bone spicules, retinal vessel attenuation, optic disc pallor, generalized hypopigmented dotting and peripheral pavingstone-like lesionsn/an/an/a

2Peripheral isolated bone spicules, retinal vessel attenuation, optic disc pallor, generalized hypopigmented dotting and peripheral pavingstone-like lesions, circumscribed atrophy with diffuse pigmentationIsolated hypo-AF with a nummular pattern in the periphery. Peripheral and macular hypo/hyper-AF mottling. Peripapillary hypo-AF. Central macular circumscribed hypo-AF, with a central hyper-AF dotEpiretinal membrane. Widespread loss of outer retinal layers and RPE irregularities. Prominent foveal atrophy. Large perifoveal ORT (OD), perifoveal ORT (OS). Hyper-reflective deposits above the RPEV4e: OU minimal central island of vision

3Peripheral bone spicules, retinal vessel attenuation, optic disc pallor, generalized hypopigmented dotting and peripheral pavingstone-like lesions, circumscribed atrophy with diffuse pigmentationHypo-AF with a nummular pattern in the periphery. Peripheral and macular hypo/hyper-AF mottling. Peripapillary hypo-AF. Circumscribed central macular hypo-AF, surrounded by a hyper-AF ring, and a central hyper-AF dotEpiretinal membrane. Widespread loss of outer retinal layers, thinning of inner retinal layers and RPE irregularities. Large foveal ORT (OU). Hyper-reflective deposits above the RPEV4e: OU minimal central island of vision

4Macular hypopigmented and hyperpigmented lesionsn/an/an/a

5n/an/an/an/a

6Peripheral bone spicules, retinal vessel attenuation, optic disc pallor, generalized hypopigmented dotting and peripheral pavingstone-like lesions, macular clumped pigmentationExtensive hypo-AF with a nummular pattern in peripheral, peripapillary and macular areas. Hypo/hyper-AF mottling involving the periphery and macula. Circumscribed central macular hypo-AFEpiretinal membrane. Widespread loss of outer retinal layers, thinning of inner retinal layers and RPE irregularities. Foveal atrophy. Hyper-reflective deposits above the RPEn/a

7Tessellated appearance, hypopigmented peripheral dottingPeripheral hypo-AF mottling. Hyper-AF macular ring surrounding a normal-AF area with a central hyper-AF dotIrregularities of outer retinal layers. Peripheral EZ disruptionV4e: OU normal
I4e: OD increased peripheral relative scotoma, peripapillary scotoma; OS normal

8Peripapillary atrophy, tessellated appearance, hypopigmented peripheral dottingPeripheral hypo-AF mottling. Hyper-AF in the central macular area with a diffuse central hyper-AF dotWidespread loss or outer retinal layers with parafoveal ELM preservation, and foveal EZ preservationV4e: OD central island of vision, preservation of nasal-peripheral area; OS temporal constriction
I4e: OD undetectable; OS central island of vision

9Hypopigmented generalized dotting, macular clumped pigmentationPeripheral and macular hypo/hyper-AF mottling. Peripapillary hypo-AF with adjacent diffuse nasal hyper-AF. Diffuse central macular hypo-AF, surrounded by a hyper-AF ring and with a central hyper-AF dotEpiretinal membrane. Widespread loss of outer retinal layers and RPE irregularities. Hyper-reflective deposits above the RPEV4e: OD superior constriction; OS concentric constriction
I4e: OD minimal central island of vision; OS undetectable

10Peripheral isolated bone spicules, retinal vessel attenuation, generalized hypopigmented dotting, macular circumscribed atrophy with diffuse pigmentationPerivascular hypo-AF mottling. Hyper-AF macular ring surrounding a circumscribed central macular hypo-AF area. OD with a foveal hyper-AF dotWidespread loss or outer retinal layers with foveal ELM and EZ preservation. Hyper-reflective deposits above the RPEV4e: OD minimal central island of vision; OS central island of vision

11Hypopigmented dotting in the retinal equator, vessel attenuation and macular clumped pigmentationPeripheral hyper-AF mottling, and equatorial hypo-AF. Temporal peripapillary hyper-AF. Diffuse central macular hypo-AF, with a central hyper-AF dotEpiretinal membrane. Widespread loss of outer retinal layers, thinning of inner retinal layers with some foveal preservation. Foveal atrophy. RPE irregularities. Hyper-reflective deposits above the RPEV4e: OU annular scotoma

12Peripheral bone spicules, retinal vessel attenuation, optic disc pallor, generalized hypopigmented dotting and peripheral pavingstone-like lesionsIsolated peripheral nummular hypo-AF. Peripheral and macular hypo/hyper-AF mottling. Peripapillary hypo-AF. Circumscribed central macular hypo-AF. OD with a central hyper-AF dotEpiretinal membrane. Widespread loss of outer retinal layers, thinning of inner retinal layers and RPE irregularities. Large foveal ORT (OD), perifoveal ORT (OS). Hyper-reflective deposits above the RPEn/a

13Peripheral bone spicules, retinal vessel attenuation, optic disc pallor, macular clumped pigmentationPeripheral and macular hypo/hyper-AF mottling. Peripapillary hypo-AF, hyper-AF between the peripapillary area and the fovea. Diffuse central macular hypo-AF, and a central hyper-AF dotEpiretinal membrane. Widespread loss of outer retinal layers, thinning of inner retinal layers with some foveal preservation. RPE irregularities. Hyper-reflective deposits above the RPEn/a

14Peripheral isolated bone spicules, retinal vessel attenuation, generalized hypopigmented dotting, optic disc pallor, circumscribed macular atrophyPerivascular hypo-AF mottling. Hyper-AF macular ring surrounding a circumscribed central macular hypo-AF areaEpiretinal membrane. Widespread loss of outer retinal layers. Hyper-reflective deposits above the RPEn/a

ELM, external limiting membrane; EZ, ellipsoid zone; n/a, not available; OD, oculus dexter; ORT, outer retinal tubulations; OS, oculus sinister; OU, oculus uterque; RPE, retinal pigment epithelium.