case_images: PMC10601875_01
case_images: Thick head of hair, bushy eyebrows, short, upturned philtrum, high nasal bridge, beak-shaped nose, and an ogival palate in the patient with Cohen syndrome.
case_images: cop-2023-0014-0001-533974_F01.jpg
case_images: PMC10601875_01_cop-2023-0014-0001-533974_F01.jpg
case_images: F1
case_images: The patient also presented facial dysmorphism, with thick hair and a short, upturned philtrum, a high nasal bridge and a beak-shaped nose, and an ogival palate (shown in Fig. 1).
case_images: Bilateral and symmetrical fundoscopic features of pigmentary retinopathy (disc pallor, generalized arteriolar narrowing, mid-peripheral "bone-spicule" pigmentary changes, and RPE atrophy), as well as tomographic bilateral diffuse RPE and outer retinal atrophy, which involved the subfoveal area, without concomitant CME, in the patient with Cohen syndrome.
case_images: cop-2023-0014-0001-533974_F02.jpg
case_images: PMC10601875_01_cop-2023-0014-0001-533974_F02.jpg
case_images: F2
case_images: He presented classic fundoscopic features of pigmentary retinopathy (disc pallor, generalized arteriolar narrowing, mid-peripheral "bone-spicule" pigmentary changes, and RPE atrophy) in OU (shown in Fig. 2). A multimodal retinal evaluation was conducted, with macular OCT (shown in Fig. 2), peripapillary OCT (shown in Fig. 3), and FA (shown in Fig. 4), as well as kinetic perimetry and electrophysiologic studies (shown in Fig. 5).
case_images: FA of the patient with Cohen syndrome. There is diffuse RPE atrophy with prominent choroidal vessels, most evident in the mid and far peripheries, as well as "bone-spicule" pigment mobilization in the mid periphery.
case_images: cop-2023-0014-0001-533974_F04.jpg
case_images: PMC10601875_01_cop-2023-0014-0001-533974_F04.jpg
case_images: F4
case_images: A multimodal retinal evaluation was conducted, with macular OCT (shown in Fig. 2), peripapillary OCT (shown in Fig. 3), and FA (shown in Fig. 4), as well as kinetic perimetry and electrophysiologic studies (shown in Fig. 5).