case_images: PMC11390461_01
case_images: Photographs of the anterior segment showed multiple iris cysts at the pupillary margin of both eyes (A,E). FA showed a slight leakage of fluorescein at the pupillary margin (B,F). Fundus photographs showed a normal optic disk and macula (C,G). FA showed slight tortuosity of the retinal arterioles, with no vascular leakage (D,H). OCT showed that the cysts were hollow with a thin wall (I,N) a normal retinal optic disk (J,K,O,P), and a macula (L,M,Q,R).
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case_images: fig1
case_images: III, Natus Medical, USA) of the iris showed multiple iris cysts with partial shrinkage at the pupillary margin in both eyes (Figures 1A,E). Iris angiography showed a slight leakage of fluorescein at the pupillary margin of both eyes, no fluorescent signals were detected within the iris flocculi (Figures 1B,F). At the same time, intraoperative optical coherence tomography (OCT) (OPMI LUMERA 700 and RESCAN 700, ZEISS) revealed multiple cysts with relatively smooth surface reflections at the pupillary margin (Figures 1I,N). OCT revealed normal morphology of the optic disk, macula, and fovea (Figures 1J-M,O). Because the pupils did not respond well to the mydriatics, fundus photographs (Figures 1C,G) and fluorescein angiography (FA) (Figures 1D,H) could not clearly display the entire retina.
case_images: The whole exome genome sequencing showed a heterozygous c.445C > T mutation in ACTA2(the peak map shown by Sanger validation is the reverse complementary sequence of the detected bases).
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case_images: fig2
case_images: Arg149Cys) mutation in ACTA2 (Figure 2).
case_images: PMC11390461_02
case_images: Color photographs showed multiple cysts at the pupillary margin, some showing partly collapsed with shrinking (A,B). AS-OCT showed cystic components lining the pupillary margin of the iris (E,F). Wide-angle color fundus photographs (C,D) and OCT (G,H) showed normal structure in the retinal vasculature and macula.
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case_images: fig3
case_images: After being advised to undergo an ophthalmic examination, color photographs of the iris revealed multiple cysts at the pupillary margin in both eyes, and the iris crypts appeared to be less prominent (Figures 3A,B). Some of the cysts exhibited different reflectivities, they may contain different components, and other cysts were thin-walled and hollow (Figures 3E,F). Wide-angle color fundus photographs (Clarus 500, Zeiss) (Figures 3C,D) and OCT (Figures 3G,H) did not reveal abnormalities in the retinal vasculature or macula.
case_images: PMC11390461_03
case_images: Color photographs showed iris flocculi in both eyes (A,B). A montage of retinal photographs showed tortuous retinal small blood vessels (C,D).
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case_images: fig4
case_images: A 56-year-old man, the maternal grandfather of case 1, was examined via color photography, which revealed iris flocculi and obscure iris crypts in both eyes (Figures 4A,B). A montage of retinal photographs showed tortuous small retinal blood vessels (Figures 4C,D).