Table 1 of
Seo, Mol Vis 2024; 30:58-66. Table 1 of
Seo, Mol Vis 2024; 30:58-66.
Table 1. Clinical phenotype of affected patients in two unrelated families with North Carolina macular dystrophy.
| Patient No. | Sex /Age | Refraction (SE) | BCVA | Funduscopic findings | OCT findings | ||
|---|---|---|---|---|---|---|---|
| OD | OS | OD | OS | ||||
| I-2 (Family A) | M/44 | +0.38 | +0.63 | 20/20 | 20/20 | Confluent drusen at parafovea (OD) Fine macular drusen-like deposits (OS) | Focal disruption of ellipsoid zone without retinal excavation (OU) |
| II-4 (Family A) | F/18 | −0.50 | −0.88 | 20/100 | 20/200 | Yellowish fibrotic scars with surrounding geographic atrophy in the macula (OU) | Intraretinal cavitation and subretinal fibrosis with retinal excavation (OU) |
| II-5 (Family A) | F/35 | −1.63 | −1.00 | 20/25 | 20/200 | Confluent drusen, mild RPE atrophy and excavation in the macula (OD) Yellowish fibrotic scars with surrounding geographic atrophy in the macula (OS) | Small retinal excavation with disruption of ellipsoid zone (OD) Elevated confluent drusen, subretinal fibrosis, and disciform scars without retinal excavation (OS) |
| II-6 (Family A) | M/12 | 0.00 | +0.13 | 20/40 | 20/20 | Subretinal fibrosis and pigment clumping (OU) | Focal defect of RPE and photoreceptor layers (OU) |
| I-4 (Family B) | M/54 | −2.50 | −2.50 | 20/20 | 20/20 | Confluent drusen at fovea (OU) | No retinal excavation with foveal vitelliform lesion (OD) A little retinal excavation with deposits in ellipsoid zone (OS) |
| II-5 (Family B) | M/17 | −4.00 | −3.75 | 20/20 | 20/20 | Confluent drusen at fovea (OU) | Small retinal excavation with disruption and deposits in ellipsoid zone (OU) |
| II-6 (Family B) | M/14 | −0.50 | −0.25 | 20/20 | 20/20 | Confluent drusen at fovea (OU) | No retinal excavation with disruption of ellipsoid zone (OU) |