Table 3.
Clinical features of 10 BCD patients with mutations in CYP4V2.
| Visual acuity |
Visual field |
|||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family | ID | Age | Age at onset | Gender | Initial visual acuity (OD) | Initial visual acuity (OS) | Visual Acuity (OD) | Visual Acuity (OS) | Refraction (OD) | Refraction (OS) | Initial visual field (OD) | Initial visual field (OS) | Visual field (OD) | Visual field (OS) |
| A | MOGL 3254 | 57 | 30 | M | N/A | N/A | 20/100 | 20/50 | −0.50 +2.00 × 180° | Plano + 1.50 × 180° | N/A | N/A | 70° (V4e) 65° (III4e) | 70° (V4e) 65° (III4e) |
| B | MOGL 3138 | 67 | 45 | M | N/A | N/A | 20/150 | 12/400 | −1.50 +1 × 180° | −1.50 +1 × 180° | N/A | N/A | 70° with pericentral defect (V4e), peripheral island (I4e) | 70° with patchy defects (V4e), 5° with peripheral island (I4e) |
| C | 13573-BD | 47 | 30 | F | 20/100 (age 38) | 20/200 (age 38) | 1/30 | LP | −4.75 −1.75 × 95° | −5.0 −1.5 × 90° | Concentric narrowing ;to 5° with target III4e, peripheral residual slim islands (age 38) | residual islands peripheral (target V4e), central island <3° | ||
| D | 3338-BD | 54 | 24 | F | N/A | N/A | HM | HM | −1.75 −0.5 × 76° | −0.75 −1.0 × 66° | N/A | N/A | Residual islands peripheral (target V4e) | |
| E | 3549-BD | 41 | 20 | F | 20/20 | 20/20 | 20/20 | 20/20 | −1.25 −0.5 × 105° | −1.0 −0.75 × 77° | N/A | N/A | Normal outer boundaries with III4e, decreased sensitivity and “patchy” defects with I4e and I3e targets | |
| F | KW | 49 | 31 | F | 20/40 | 20/40 | HM | 20/400 | Plano | Plano | Normal peripheral limits, pericentral sensitivity loss (I2 not seen), central relative scotoma (I3 and I4), enlarged blind spot | Normal peripheral limits, pericentral sensitivity loss (I2 not seen), enlarged blind spot | Mild concentric constriction, central scotoma (V4), residual temporal crescent (III4), I2 and I3 not seen | Mild concentric constriction, central scotoma with small preserved patch nasal to blind spot (V4) |
| G | 10906-BD | 77 | 57 | F | 20/50 (age 75) | 20/200 (age 75) | 20/100 | 20/400 | +1.0 −2.0 × 110° | ±0 | N/A | N/A | N/A | N/A |
| H | RCD | 38 | 30 | F | 20/30 | 20/25 | 20/40 | 20/30 | Plano | Plano | N/A | N/A | Mild concentric constriction, enlarged blind spot (V4) considerable sensitivity loss, doughnut shaped annular scotoma (I4), I2 and I3 not seen | Considerable concentric constriction, enlarged blind spot (V4) considerable sensitivity loss, doughnut shaped annular scotoma (I4), I2 and I3 not seen |
| I | 11431-USHII | 33 | 21 | F | 20/25 (age 22) | 20/40 (age 22) | 20/40 | 20/50 | −3.25 −1.25 × 7° | −4.0 −1.5 × 174° | Concentric narrowing to 40° with target III4e (age 22) | Concentric narrowing to 10°, no peripheral islands (target III4e) | ||
| J | 6284-BD | 51 | 18 | M | 20/20 | 20/20 | 20/40 | 20/40 | Plano | Plano | Concentric reduction, ring scotoma and residual central visual field island of central 5° | Constriction of peripheral visual field, ring scotoma, finally residual central island of central 5° | N/A | N/A |
| Symptoms |
Morphology |
||||||
|---|---|---|---|---|---|---|---|
| Family | Nyctalopia | Photophobia | Color vision defect | Cornea | Lens | Macula | Peripheral Retina |
| A | Y | N | N | Clear | Early cortical changes OS | Relative foveal sparing | Areas of RPE atrophy and choroidal sclerosis, normal vessel caliber, peripheral bony spicules |
| B | Y | N | N | Clear | PSCC | Macular involvement | Crystals in periphery and posterior pole, choroidal sclerosis, tigroid |
| C | Y | Y | N | Clear | Cortical Opacities | Atrophic | Optic disks vital, narrow vessels, generalized RPE atrophy, crystalline deposits |
| D | Y | N | N | Limbus: crystalline deposits | Crystalline deposits, PSCC | Huge macular hole with neurosensoric detachment on OD, macula atrophic OS | Optic disks vital, narrow vessels, generalized RPE atrophy, crystalline deposits |
| E | Y | N | Y | Clear | Clear | None commented | Optic disks vital, peripapillary atrophy, vessels moderately attenuated, posterior pole with patchy RPE-atrophy and crystalline deposits, some pigment clumps |
| F | Y | N | Y (severe R/G; severe B/Y) | Very small peripheral crystals | Mild lenticular sclerosis | Extreme outer retinal and choriocapillaris atrophy, small white inner retinal crystals | Patchy outer retinal and choriocapillaris atrophy with fine white retinal crystals mostly in midperiphery, spicular inner retinal pigment migration with some larger pigment patches, small scalloped patches of preserved retina in periphery |
| G | Y | Y (mild) | N/A | Clear | Pseudophakic | Severe atrophy, crystals and yellow white flecks | Pigmentary changes |
| H | Y | N | Y (medium R/G defect; severe B/Y) | Clear | Clear | Patchy outer retinal and choriocapillaris atrophy with fine white inner retinal crystals | Patchy outer retinal and choriocapillaris atrophy with fine white retinal crystals mostly in midperiphery, spicular inner retinal pigment migration, with some larger pigment patches |
| I | Y | Y | Y | Clear | Cortical opacities | Macular edema and inferior gliosis | Optic disks vital, narrow vessels, RPE atrophy, crystalline deposits |
| J | Y | Y | Y | Crystalline deposits | Initially clear, finally primarily subcapsular post cataract | Diffuse crystalline deposits and reduced reflexes | Crystalline deposits, progressive atrophy during follow up, finally choroideremia-like fundus |
| Family | Electrophysiology | OCT/FAF | Other ocular | Other systemic |
|---|---|---|---|---|
| A | Cone: 25% residual function, rod: 20% residual function | FAF: Patchy hypofluorescence OCT: intraretinal and subretinal crystals and edema | N/A | N/A |
| B | Cone: 5uV out of 120uV b wave, Rod: 12uV out of 220uV b wave | Foveal thinning, remodeling, intraretinal and subretinal crystals | N/A | N/A |
| C | Non recordable | Retinal atrophy, crystalline deposits | N/A | N/A |
| D | Non recordable | OD: huge macular hole and neurosensoric detachment OS: retinal atrophy, crystalline deposits | N/A | Depression, elevated blood pressure, elevated cholesterol levels |
| E | Ganzfeld: scotopic and photopic responses on the lower normal limits, somewhat delayed IT; mfERG: central responses with almost normal amplitudes and IT, in outer rings IT delayed, amplitude subnormal | Retinal atrophy, crystalline deposits, central retina (fovea) with almost intact photoreceptors | Patient notes central vision defects and difficultyreading | N/A |
| F | ERG: absent rod-specific and cone-specific responses | Outer retinal atrophy with fine retinal crystals at all levels, crystals most visible on infrared and redfree reflectance imaging, blue light fundus autofluorescence virtually absent | N/A | N/A |
| G | Full-field ERG: Dark adapted ERG 55% of normal, light adapted 45% of normal, flicker 40% of normal; mfERG: severe central amplitude reduction | OCT not available, FAF multiple patchy areas of intensity loss | N/A | N/A |
| H | ERG: absent rod-specific responses; residual cone-specific responses | Outer retinal atrophy with fine retinal crystals at all levels, crystals most visible on infrared and redfree reflectance imaging, blue light fundus autofluorescence shows hypofluorescent scalloped patches surrounded by thin interconnecting bridges of normo- and hyperautofluorescence | N/A | N/A |
| I | Ganzfeld ERG extinguished, mfERG central emaining responses | Cystoid macular edema, crystalline deposits | N/A | Hearing problems, thalassemia minor, chronic nephropathy |
| J | Initially negative scotopic ERG. Finally nondetectable. | Deposits in deep retinal layer, obscured in fluorescein angiography | N/A | N/A |