Fig. 2: Clinical and phenotypic documentation in case 2. | Human Genome Variation

Fig. 2: Clinical and phenotypic documentation in case 2.

From: Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Fig. 2

[A] Family pedigree: affected status is indicated by a shaded square and carrier status by a dot (●). [B] ERG shows severely reduced rod and cone responses, with cone responses almost extinguished. [C] Fundus photograph of case 2 (i & ii): right and left eye of the child showing a large macular scar, arteriolar attenuation, and RPE granularity. [D] The analysis, validation, and identification of WES data. [E] Electrophoretogram showing the g.73680491delT; c.6840delT; (p. Pro2281Leufs*63) variant, homozygous (II1) in the proband and heterozygous in the (I1) father and (I2) mother.

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