Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations

Table 1

Clinical results at baseline and follow-up: visual acuity, fundus appearance, and full-field ERG responses.

Family	Code sex	Age of onset	Primary visual acuity	Fundus and FA at baseline	Primary full-field ERG	Baseline diagnosis	Final visual acuity	Fundus and FA at last follow-up	Final full-field ERG	Last follow-up diagnosis
Family A	III1F	6	<20/400	Diffuse macular, peripapillary, and peripheral RPE atrophy; hyperfluorescent dots	Altered photopic and scotopic responses	Stargardt dystrophy “phenotype III”	Light perception	Extensive areas of atrophy, pigment clumping, and migration throughout the posterior pole, to the peripheral retina; hyperfluorescent atrophic dots progression with hypofluorescent spots beyond the vascular arcades	Altered photopic and scotopic responses	Severe Stargardt dystrophy “phenotype III”
	III2F	6	<20/400	Diffuse macular, peripapillary, and peripheral RPE atrophy; hyperfluorescent dots	Altered photopic and scotopic responses	Stargardt dystrophy “phenotype III”	Light perception	Extensive areas of atrophy, pigment clumping, and migration throughout the posterior pole, to the peripheral retina	Altered photopic and scotopic responses	Severe Stargardt dystrophy “phenotype III”
	III3M	6	20/330	Macular atrophy; white-yellow flecks; hyperfluorescent atrophic spots; silent choroid	Altered photopic responses	Stargardt fundus flavimaculatus “phenotype II”	Hand movement	Diffuse macular, peripapillary, and RPE atrophy extending beyond the vascular arcades	Altered photopic and scotopic responses	Stargardt dystrophy “phenotype III”
	III6M	6	20/400	Central atrophy with white-yellow flecks; macular atrophy; hyperfluorescent atrophic spots; silent choroid	Altered photopic responses	Stargardt fundus flavimaculatus “phenotype II”	Light perception	Diffuse macular, peripapillary, and RPE atrophy extending beyond the vascular arcades; regression of the white-yellow flecks in the midperiphery replaced by numerous atrophic dots	Altered photopic and scotopic responses	Stargardt dystrophy “phenotype III”
	III7F	5	20/200	Bull’s eye maculopathy; temporal peripapillary atrophy; silent choroid; fibroglial scar	Slightly altered photopic responses	Stargardt maculopathy “phenotype I”	20/400	Central atrophy with white-yellow flecks; macular atrophy; hyperfluorescent atrophic spots; silent choroid	Altered photopic and scotopic responses	Stargardt fundus flavimaculatus “phenotype III”
Family B	III8F	10	20/500	Central atrophy with white-yellow flecks; hyperfluorescent atrophic spots; silent choroid	Altered photopic responses	Stargardt fundus flavimaculatus	Light perception	Diffuse macular, peripapillary, and peripheral RPE atrophy; regression of the white-yellow flecks hyperfluorescent dots	Altered photopic and scotopic responses	Stargardt dystrophy “phenotype III”
	III10M	12	20/400	Central atrophy with white-yellow flecks; macular atrophy hyperfluorescent atrophic spots; silent choroid	Altered photopic responses	Stargardt fundus flavimaculatus	Light perception	Diffuse macular, peripapillary, and peripheral RPE atrophy; regression of the white-yellow flecks hyperfluorescent dots	Altered photopic and scotopic responses	Stargardt dystrophy “phenotype III”