Journal of Ophthalmology / 2018 / Article / Tab 1

Research Article

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.

FamilyCode sexAge of onsetPrimary visual acuityFundus and FA at baselinePrimary full-field ERGBaseline diagnosisFinal visual acuityFundus and FA at last follow-upFinal full-field ERGLast follow-up diagnosis

Family AIII1F6<20/400Diffuse macular, peripapillary, and peripheral RPE atrophy; hyperfluorescent dotsAltered photopic and scotopic responsesStargardt dystrophy “phenotype III”Light perceptionExtensive 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 arcadesAltered photopic and scotopic responsesSevere Stargardt dystrophy “phenotype III”
III2F6<20/400Diffuse macular, peripapillary, and peripheral RPE atrophy; hyperfluorescent dotsAltered photopic and scotopic responsesStargardt dystrophy “phenotype III”Light perceptionExtensive areas of atrophy, pigment clumping, and migration throughout the posterior pole, to the peripheral retinaAltered photopic and scotopic responsesSevere Stargardt dystrophy “phenotype III”
III3M620/330Macular atrophy; white-yellow flecks; hyperfluorescent atrophic spots; silent choroidAltered photopic responsesStargardt fundus flavimaculatus “phenotype II”Hand movementDiffuse macular, peripapillary, and RPE atrophy extending beyond the vascular arcadesAltered photopic and scotopic responsesStargardt dystrophy “phenotype III”
III6M620/400Central atrophy with white-yellow flecks; macular atrophy; hyperfluorescent atrophic spots; silent choroidAltered photopic responsesStargardt fundus flavimaculatus “phenotype II”Light perceptionDiffuse macular, peripapillary, and RPE atrophy extending beyond the vascular arcades; regression of the white-yellow flecks in the midperiphery replaced by numerous atrophic dotsAltered photopic and scotopic responsesStargardt dystrophy “phenotype III”
III7F520/200Bull’s eye maculopathy; temporal peripapillary atrophy; silent choroid; fibroglial scarSlightly altered photopic responsesStargardt maculopathy “phenotype I”20/400Central atrophy with white-yellow flecks; macular atrophy; hyperfluorescent atrophic spots; silent choroidAltered photopic and scotopic responsesStargardt fundus flavimaculatus “phenotype III”

Family BIII8F1020/500Central atrophy with white-yellow flecks; hyperfluorescent atrophic spots; silent choroidAltered photopic responsesStargardt fundus flavimaculatusLight perceptionDiffuse macular, peripapillary, and peripheral RPE atrophy; regression of the white-yellow flecks hyperfluorescent dotsAltered photopic and scotopic responsesStargardt dystrophy “phenotype III”
III10M1220/400Central atrophy with white-yellow flecks; macular atrophy hyperfluorescent atrophic spots; silent choroidAltered photopic responsesStargardt fundus flavimaculatusLight perceptionDiffuse macular, peripapillary, and peripheral RPE atrophy; regression of the white-yellow flecks hyperfluorescent dotsAltered photopic and scotopic responsesStargardt dystrophy “phenotype III”

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