Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

BMC Medical Genetics

Table 1 Clinical data of the affected individuals

Pt #	Age (y)	Visual acuity*		ERG	Fundus findings*		Nystagmus	Keratoconus*		Cataract*
33	11	LP	LP	Extinct	Reduced foveal reflex	Reduced foveal reflex	Yes	No	No	Yes	Yes
34	9	FC 0.15 m	FC 0.2 m	Extinct	Pigmentary changes	Pigmentary changes	Yes	No	No	No	Yes
32	4	ULP	ULP	NA	Reduced foveal reflex	Reduced foveal reflex	No	No	No	No	No
40	3	ULP	ULP	Extinct	Normal	Normal	Yes	Yes	Yes	No	No
11	44	HM	HM	NA	Normal	Normal	No	Yes	Yes	Yes	Yes
12	40	ULP	ULP	Extinct	Normal	Normal	Yes	Yes	Yes	No	No
20	10.5	ULP	ULP	Extinct	Pale, ghost vessels	Pale, ghost vessels	Yes	No	No	No	No
19	12	LP	LP	NA	Pigmentary changes	Pigmentary changes	No	No	No	No	No

Abbreviations: Pt patient, ERG electroretinogram, LP light perception, FC finger counting, ULP uncertain light perception, HM hand motion, NA not applicable *Left column shows findings in the right eye, right column – in the left eye

ISSN: 1471-2350