Table 2.

Retinal Imaging and Morphological Findings of 15 Patients with GUCY2D-RD

Fundus								FAF							SD-OCT
Patient No.	Phenotype Subgroup	Macular Atrophy	Atrophy Along the Arcade	Peripheral Atrophy	Vessel Attenuation	Pigmentation	Comments	Area of Decreased Density at the Central Retina	Area of Increased Density at the Macula	Ring of Increased Density	Areas of Abnormal Density Along the Arcade	Areas of Abnormal Density Areas in the Periphery	Foveal Sparing Surrounded by Decreased Density at the Parafovea	Comments	Outer Retinal Disruption at the Fovea	Outer Retinal Disruption at the Parafovea	Increased Signal of the Choroid	EZ Preservation at the fovea (RE)	EZ Preservation at the fovea (LE)	Comments
1 (MU01-01)	LCA	No	No	No	No	No	Funduscopy, normal	NA	NA	NA	NA	NA	NA		NA	NA	NA	NA	NA
2 (TMC01-01)	CORD	No	No	No	No	No	Normal	No	Yes	No	No	No	No	Slightly increased AF at the fovea	No	No	No	Yes	Yes	Loss of IZ at the macula
3 (NU01-01)	CORD	No	No	No	Yes	No	Subtle diffuse disturbance at the posterior pole	NA	NA	NA	NA	NA	NA		No	Yes	No	Yes	Yes	Loss of IZ at the macula with ERM in the right eye
4 (KDU01-01)	CORD	Yes	No	No	No	No	Subtle fine dots at the macula	No	Yes	No	No	No	No		No	No	No	No	No	Loss of EZ/IZ at the fovea
5 (KDU01-02)	CORD	Yes	Yes	No	No	No	Intrachoroidal cavitaion in the left eye	Yes	No	Yes	No	No	No		Yes	Yes	Yes	No	No	Thinned sensory retina and loss of EZ/IZ at the macla; Intrachoroidal cavitaion at the left macula
6 (GU01-01)	CORD	No	No	No	No	No	Normal	No	Yes	No	No	No	No	Slightly increased AF at the fovea	No	No	No	Yes	Yes	Loss of IZ at the macula
7 (TMC02-01)	CORD	Yes	Yes	Yes	Yes	Yes	Atrophic changes with at the posterior pole extended to the periphery	Yes	No	Yes	Yes	Yes	No		Yes	Yes	Yes	No	No
8 (JU01-01)	CORD	No	No	No	No	No	Normal	No	Yes	Yes	No	No	No	Slightly increased AF at the fovea of the right eye	No	No	No	Yes	Yes	Loss of IZ at the macula
9 (JU01-02)	CORD	Yes	No	No	No	No	Subtle fine dots at the macula	No	No	No	No	No	No	Slightly abnormal background	Yes	No	No	No	No
10 (JU01-03)	CORD	Yes	No	No	No	Yes	Pigmentation at the macula in both eyes, intrachoroidal cavitation in the left eye	Yes	No	No	No	No	No	Loss of AF signal at the macula	Yes	Yes	Yes	No	No	Intrachoroidal cavitation at the left macula.
11 (JU02-01)	CORD	No	No	No	No	No	Essential normal except for optic disc cupping	No	Yes	No	No	No	Yes		No	No	No	Yes	Yes	Loss of IZ at the macula
12 (KDU02-01)	CORD	Yes	No	No	No	Yes		Yes	No	No	No	No	No	Artifact due to the medial condition	Yes	Yes	Yes	No	No	Thinned sensory retina and loss of EZ/IZ at the macula
13 (TMC03-01)	CORD	Yes	Yes	No	No	No	Intrachoroidal cavitation	Yes	No	No	No	No	No	Loss of AF signal at the macula	Yes	Yes	Yes	No	No	Thinned sensory retina/intrachoroidal cavitation at the macula
14 (NU02-01)	CORD	No	No	No	No	No	Normal	NA	NA	NA	NA	NA	NA		No	No	No	No	No	Loss of EZ/IZ at the macula
15 (MU02-01)	MD	No	No	No	No	No	Subtle diffuse disturbance at the posterior pole	No	No	No	No	No	No	Slightly abnormal background	No	No	No	Yes	Yes	Loss of IZ at the macula

BE, both eyes; EZ, ellipsoid zone; FAF, fundus autofluorescence; FS, foveal sparing; LE, left eye; M male; NA not available; RE, right eye; SD-OCT, spectral domain optical coherence tomography.

Foveal sparing was defined as remaining foveal AF signal surrounded by the area of decreased AF.