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)